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Submitted URL: https://23andme.com/
Effective URL: https://www.23andme.com/en-int/
Submission: On October 10 via api from US — Scanned from DE
Effective URL: https://www.23andme.com/en-int/
Submission: On October 10 via api from US — Scanned from DE
Form analysis 6 forms found in the DOM
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</form>Text Content
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OF CHROMOSOMES.
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Your chromosomes are made of DNA, which can tell you a lot about you. Explore
your 23 pairs today.
Find out what your 23 pairs of chromosomes can tell you.
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Your DNA analysis is performed in US laboratories that are certified to meet
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qualifications for individuals who perform the test and other standards that
ensure the accuracy and reliability of results.
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WHAT IS THE HISTORY OF THE COMPANY?
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the human genome.
We have more than five million genotyped customers around the world.
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Genetic Service in international markets and health reports are not available.
The service is in English only. It requires submitting a saliva sample using our
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Our Ancestry + Traits Service helps you understand who you are, where your DNA
comes from and your family story. We analyze, compile and distill your DNA
information into reports on your Ancestry Composition, Ancestry Detail Reports,
Traits, Haplogroups, and Neanderthal Ancestry. We also provide a DNA Relatives
tool to enable you to connect with relatives who share similar DNA, and an
automatic Family Tree builder.
HOW ACCURATE ARE THE REPORTS?
Our rigorous quality standards include:
* All saliva samples are processed in CLIA-certified and CAP-accredited labs
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reports to ensure validity
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provides you with ancestry estimates down to the 0.1%
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ANCESTRY REPORTS
50+ reports
* Ancestry Composition
* Ancestry Detail Reports (48 reports)
Population-specific reports with maps covering 2000+ regions, offering a
granular view of your ancestry, plus immersive educational content.
Reports included:
Americas (Caribbean, Mexico & Central America, Indigenous American, South
America); East Asia (Chinese, Chinese Dai, Filipino & Austronesian,
Indonesian, Thai, Khmer & Myanma, Japanese, Korean, Manchurian & Mongolian,
Siberian, Vietnamese); Europe (Ashkenazi Jewish, British & Irish, Eastern
European, Finnish, French & German, Greek & Balkan, Italian, Sardinian,
Scandinavian, Spanish & Portuguese); Oceania (Melanesian); Central & South
Asia (Bengali & Northeast Indian, Central Asian, Gujarati Patidar, Malayali
Subgroup, Northern Indian & Pakistani, Southern Indian & Sri Lankan, Southern
Indian Subgroup); Sub-Saharan Africa (African Hunter-Gatherer, Angolan &
Congolese, Ethiopian & Eritrean, Ghanaian, Liberian & Sierra Leonean,
Nigerian, Senegambian & Guinean, Somali, Southern East African, Sudanese);
Western Asia & North Africa (Anatolian, Coptic Egyptian, Cypriot, Egyptian,
Iranian, Caucasian & Mesopotamian, Levantine, North African, Peninsular Arab)
* Family Tree
* Maternal Haplogroup
* Paternal Haplogroup
* Neanderthal Ancestry
See sample report See sample report
TRAIT REPORTS
30+ traits
* Ability to Match Musical Pitch
* Asparagus Odor Detection
* Back Hair (available for men only)
* Bald Spot (available for men only)
* Bitter Taste
* Bunions
* Cheek Dimples
* Cilantro Taste Aversion
* Cleft Chin
* Dandruff
* Earlobe Type
* Early Hair Loss (available for men only)
* Earwax Type
* Eye Color
* Fear of Heights
* Fear of Public Speaking
* Finger Length Ratio
* Flat Feet
* Freckles
* Hair Photobleaching (hair lightening from the sun)
* Hair Texture
* Hair Thickness
* Ice Cream Flavor Preference
* Light or Dark Hair
* Misophonia (hatred of the sound of chewing)
* Mosquito Bite Frequency
* Motion Sickness
* Newborn Hair
* Photic Sneeze Reflex
* Red Hair
* Skin Pigmentation
* Stretch Marks
* Sweet vs. Salty
* Toe Length Ratio
* Unibrow
* Wake-Up Time
* Widow's Peak
See sample report See sample report
HEALTH PREDISPOSITION REPORTS*
10+ reports
* TYPE 2 DIABETES ( POWERED BY 23ANDME RESEARCH )
Learn more
Genetic likelihood for a disorder of blood sugar regulation
1,000+ variants in many genes; variants found in many ethnicities
* AGE-RELATED MACULAR DEGENERATION
Genetic risk for a form of
adult-onset vision loss
2 variants in the ARMS2 and CFH genes; relevant for European descent
* ALPHA-1 ANTITRYPSIN DEFICIENCY
Genetic risk for lung and liver disease
2 variants in the SERPINA1 gene; relevant for European descent
* BRCA1/BRCA2 (SELECTED VARIANTS)
Learn more
Genetic risk based on a limited
set of variants for breast, ovarian
and other cancers
3 variants in the BRCA1 and BRCA2 genes; relevant for Ashkenazi Jewish
descent
* CELIAC DISEASE
Genetic risk for gluten-related
autoimmune disorder
2 variants near the HLA-DQB1 and HLA-DQA1 genes; relevant for European
descent
* CHRONIC KIDNEY DISEASE (APOL1-RELATED)
Genetic risk for a form of chronic kidney disease
2 variants in the APOL1 gene; relevant for African descent
* FAMILIAL HYPERCHOLESTEROLEMIA
Genetic risk for very high cholesterol, which can increase the risk for heart
disease
24 variants in the LDLR and APOB genes; relevant for European, Lebanese, Old
Order Amish descent
* G6PD DEFICIENCY
Genetic risk for a form of anemia
2 variants in the G6PD gene; relevant for African, Southern European, Kurdish
Jewish, Middle Eastern, Central Asian, South Asian descent
* HEREDITARY AMYLOIDOSIS (TTR-RELATED)
Genetic risk for a form of nerve and heart damage
3 variants in the TTR gene; relevant for African American, West African,
Portuguese, Northern Swedish, Japanese, Irish, British descent
* HEREDITARY HEMOCHROMATOSIS (HFE‑RELATED)
Genetic risk for iron overload
2 variants in the HFE gene; relevant for European descent
* HEREDITARY THROMBOPHILIA
Genetic risk for harmful blood clots
2 variants in the F2 and F5 genes; relevant for European descent
* LATE-ONSET ALZHEIMER'S DISEASE
Genetic risk for a form of dementia
1 variant in the APOE gene; variant found and studied in many ethnicities
* MUTYH-ASSOCIATED POLYPOSIS
Genetic risk for a specific colorectal cancer syndrome
2 variants in the MUTYH gene; relevant for Northern European descent
* PARKINSON'S DISEASE
Genetic risk for a form
of movement impairment
2 variants in the LRRK2 and GBA genes; relevant for European, Ashkenazi
Jewish, North African Berber descent
See sample report See sample report
WELLNESS REPORTS
5+ reports
* Alcohol Flush Reaction
* Caffeine Consumption
* Deep Sleep
* Genetic Weight
* Lactose Intolerance
* Muscle Composition
* Saturated Fat and Weight
* Sleep Movement
See sample report See sample report
CARRIER STATUS REPORTS*
40+ reports
* ARSACS
1 variant in the SACS gene; relevant for French Canadian descent
* AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY
1 variant in the SLC12A6 gene; relevant for French Canadian descent
* AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE
3 variants in the PKHD1 gene
* BETA THALASSEMIA AND RELATED HEMOGLOBINOPATHIES
10 variants in the HBB gene; relevant for Sardinian, Cypriot,
Italian/Sicilian, Greek descent
* BLOOM SYNDROME
1 variant in the BLM gene; relevant for Ashkenazi Jewish descent
* CANAVAN DISEASE
3 variants in the ASPA gene; relevant for Ashkenazi Jewish descent
* CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1A (PMM2-CDG)
2 variants in the PMM2 gene; relevant for Ashkenazi Jewish, Danish descent
* CYSTIC FIBROSIS
29 variants in the CFTR gene; relevant for Ashkenazi Jewish, European,
Hispanic/Latino descent
* D-BIFUNCTIONAL PROTEIN DEFICIENCY
2 variants in the HSD17B4 gene
* DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY
1 variant in the DLD gene; relevant for Ashkenazi Jewish descent
* FAMILIAL DYSAUTONOMIA
1 variant in the ELP1 gene; relevant for Ashkenazi Jewish descent
* FAMILIAL HYPERINSULINISM (ABCC8-RELATED)
3 variants in the ABCC8 gene; relevant for Ashkenazi Jewish descent
* FAMILIAL MEDITERRANEAN FEVER
7 variants in the MEFV gene; relevant for Arab, Armenian, Sephardic Jewish,
Turkish descent
* FANCONI ANEMIA GROUP C
3 variants in the FANCC gene; relevant for Ashkenazi Jewish descent
* GRACILE SYNDROME
1 variant in the BCS1L gene; relevant for Finnish descent
* GAUCHER DISEASE TYPE 1
3 variants in the GBA gene; relevant for Ashkenazi Jewish descent
* GLYCOGEN STORAGE DISEASE TYPE IA
1 variant in the G6PC gene; relevant for Ashkenazi Jewish descent
* GLYCOGEN STORAGE DISEASE TYPE IB
2 variants in the SLC37A4 gene
* HEREDITARY FRUCTOSE INTOLERANCE
4 variants in the ALDOB gene; relevant for European descent
* HERLITZ JUNCTIONAL EPIDERMOLYSIS BULLOSA (LAMB3-RELATED)
3 variants in the LAMB3 gene
* LEIGH SYNDROME, FRENCH CANADIAN TYPE
1 variant in the LRPPRC gene; relevant for French Canadian descent
* LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2D
1 variant in the SGCA gene
* LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2E
1 variant in the SGCB gene; relevant for Amish descent
* LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2I
1 variant in the FKRP gene
* MCAD DEFICIENCY
4 variants in the ACADM gene; relevant for European descent
* MAPLE SYRUP URINE DISEASE TYPE 1B
2 variants in the BCKDHB gene; relevant for Ashkenazi Jewish descent
* MUCOLIPIDOSIS TYPE IV
1 variant in the MCOLN1 gene; relevant for Ashkenazi Jewish descent
* NEURONAL CEROID LIPOFUSCINOSIS (CLN5-RELATED)
1 variant in the CLN5 gene; relevant for Finnish descent
* NEURONAL CEROID LIPOFUSCINOSIS (PPT1-RELATED)
3 variants in the PPT1 gene; relevant for Finnish descent
* NIEMANN-PICK DISEASE TYPE A
3 variants in the SMPD1 gene; relevant for Ashkenazi Jewish descent
* NIJMEGEN BREAKAGE SYNDROME
1 variant in the NBN gene
* NONSYNDROMIC HEARING LOSS AND DEAFNESS, DFNB1 (GJB2-RELATED)
8 variants in the GJB2 gene; relevant for many ethnicities, including
Ashkenazi Jewish, East/Southeast Asian, European, and Ghanaian descent. May
also be relevant for Hispanic/Latino, Northern African/Middle Eastern, and
South Asian descent
* PENDRED SYNDROME AND DFNB4 HEARING LOSS (SLC26A4-RELATED)
6 variants in the SLC26A4 gene
* PHENYLKETONURIA AND RELATED DISORDERS
23 variants in the PAH gene; relevant for Irish, Northern European descent
* PRIMARY HYPEROXALURIA TYPE 2
1 variant in the GRHPR gene
* PYRUVATE KINASE DEFICIENCY
1 variant in the PKLR gene
* RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 1
1 variant in the PEX7 gene
* SALLA DISEASE
1 variant in the SLC17A5 gene; relevant for Finnish, Swedish descent
* SICKLE CELL ANEMIA
1 variant in the HBB gene; relevant for African American, African, Middle
Eastern, South Asian, Caribbean, Mediterranean, Central and South American
descent
* SJÖGREN-LARSSON SYNDROME
1 variant in the ALDH3A2 gene; relevant for Swedish descent
* TAY-SACHS DISEASE
4 variants in the HEXA gene; relevant for Ashkenazi Jewish, Cajun descent
* TYROSINEMIA TYPE I
4 variants in the FAH gene; relevant for French Canadian, Finnish descent
* USHER SYNDROME TYPE 1F
1 variant in the PCDH15 gene; relevant for Ashkenazi Jewish descent
* USHER SYNDROME TYPE 3A
1 variant in the CLRN1 gene; relevant for Ashkenazi Jewish descent
* ZELLWEGER SYNDROME SPECTRUM (PEX1-RELATED)
1 variant in the PEX1 gene
See sample report See sample report
close
Ancestry USD$99
ANCESTRY REPORTS
50+ reports
* Ancestry Composition
* Ancestry Detail Reports (48 reports)
Population-specific reports with maps covering 2000+ regions, offering a
granular view of your ancestry, plus immersive educational content.
Reports included:
Americas (Caribbean, Mexico & Central America, Indigenous American, South
America); East Asia (Chinese, Chinese Dai, Filipino & Austronesian,
Indonesian, Thai, Khmer & Myanma, Japanese, Korean, Manchurian & Mongolian,
Siberian, Vietnamese); Europe (Ashkenazi Jewish, British & Irish, Eastern
European, Finnish, French & German, Greek & Balkan, Italian, Sardinian,
Scandinavian, Spanish & Portuguese); Oceania (Melanesian); Central & South
Asia (Bengali & Northeast Indian, Central Asian, Gujarati Patidar, Malayali
Subgroup, Northern Indian & Pakistani, Southern Indian & Sri Lankan, Southern
Indian Subgroup); Sub-Saharan Africa (African Hunter-Gatherer, Angolan &
Congolese, Ethiopian & Eritrean, Ghanaian, Liberian & Sierra Leonean,
Nigerian, Senegambian & Guinean, Somali, Southern East African, Sudanese);
Western Asia & North Africa (Anatolian, Coptic Egyptian, Cypriot, Egyptian,
Iranian, Caucasian & Mesopotamian, Levantine, North African, Peninsular Arab)
* Family Tree
* Maternal Haplogroup
* Paternal Haplogroup
* Neanderthal Ancestry
See sample report See sample report
TRAIT REPORTS
30+ traits
* Ability to Match Musical Pitch
* Asparagus Odor Detection
* Back Hair (available for men only)
* Bald Spot (available for men only)
* Bitter Taste
* Bunions
* Cheek Dimples
* Cilantro Taste Aversion
* Cleft Chin
* Dandruff
* Earlobe Type
* Early Hair Loss (available for men only)
* Earwax Type
* Eye Color
* Fear of Heights
* Fear of Public Speaking
* Finger Length Ratio
* Flat Feet
* Freckles
* Hair Photobleaching (hair lightening from the sun)
* Hair Texture
* Hair Thickness
* Ice Cream Flavor Preference
* Light or Dark Hair
* Misophonia (hatred of the sound of chewing)
* Mosquito Bite Frequency
* Motion Sickness
* Newborn Hair
* Photic Sneeze Reflex
* Red Hair
* Skin Pigmentation
* Stretch Marks
* Sweet vs. Salty
* Toe Length Ratio
* Unibrow
* Wake-Up Time
* Widow's Peak
See sample report See sample report
Health + Ancestry USD$
ANCESTRY REPORTS
50+ reports
* Ancestry Composition
* Ancestry Detail Reports (48 reports)
Population-specific reports with maps covering 2000+ regions, offering a
granular view of your ancestry, plus immersive educational content.
Reports included:
Americas (Caribbean, Mexico & Central America, Indigenous American, South
America); East Asia (Chinese, Chinese Dai, Filipino & Austronesian,
Indonesian, Thai, Khmer & Myanma, Japanese, Korean, Manchurian & Mongolian,
Siberian, Vietnamese); Europe (Ashkenazi Jewish, British & Irish, Eastern
European, Finnish, French & German, Greek & Balkan, Italian, Sardinian,
Scandinavian, Spanish & Portuguese); Oceania (Melanesian); Central & South
Asia (Bengali & Northeast Indian, Central Asian, Gujarati Patidar, Malayali
Subgroup, Northern Indian & Pakistani, Southern Indian & Sri Lankan, Southern
Indian Subgroup); Sub-Saharan Africa (African Hunter-Gatherer, Angolan &
Congolese, Ethiopian & Eritrean, Ghanaian, Liberian & Sierra Leonean,
Nigerian, Senegambian & Guinean, Somali, Southern East African, Sudanese);
Western Asia & North Africa (Anatolian, Coptic Egyptian, Cypriot, Egyptian,
Iranian, Caucasian & Mesopotamian, Levantine, North African, Peninsular Arab)
* Family Tree
* Maternal Haplogroup
* Paternal Haplogroup
* Neanderthal Ancestry
See sample report See sample report
TRAIT REPORTS
30+ traits
* Ability to Match Musical Pitch
* Asparagus Odor Detection
* Back Hair (available for men only)
* Bald Spot (available for men only)
* Bitter Taste
* Bunions
* Cheek Dimples
* Cilantro Taste Aversion
* Cleft Chin
* Dandruff
* Earlobe Type
* Early Hair Loss (available for men only)
* Earwax Type
* Eye Color
* Fear of Heights
* Fear of Public Speaking
* Finger Length Ratio
* Flat Feet
* Freckles
* Hair Photobleaching (hair lightening from the sun)
* Hair Texture
* Hair Thickness
* Ice Cream Flavor Preference
* Light or Dark Hair
* Misophonia (hatred of the sound of chewing)
* Mosquito Bite Frequency
* Motion Sickness
* Newborn Hair
* Photic Sneeze Reflex
* Red Hair
* Skin Pigmentation
* Stretch Marks
* Sweet vs. Salty
* Toe Length Ratio
* Unibrow
* Wake-Up Time
* Widow's Peak
See sample report See sample report
HEALTH PREDISPOSITION REPORTS*
10+ reports
* TYPE 2 DIABETES ( POWERED BY 23ANDME RESEARCH )
Learn more
Genetic likelihood for a disorder of blood sugar regulation
1,000+ variants in many genes; variants found in many ethnicities
* AGE-RELATED MACULAR DEGENERATION
Genetic risk for a form of
adult-onset vision loss
2 variants in the ARMS2 and CFH genes; relevant for European descent
* ALPHA-1 ANTITRYPSIN DEFICIENCY
Genetic risk for lung and liver disease
2 variants in the SERPINA1 gene; relevant for European descent
* BRCA1/BRCA2 (SELECTED VARIANTS)
Learn more
Genetic risk based on a limited
set of variants for breast, ovarian
and other cancers
3 variants in the BRCA1 and BRCA2 genes; relevant for Ashkenazi Jewish
descent
* CELIAC DISEASE
Genetic risk for gluten-related
autoimmune disorder
2 variants near the HLA-DQB1 and HLA-DQA1 genes; relevant for European
descent
* CHRONIC KIDNEY DISEASE (APOL1-RELATED)
Genetic risk for a form of chronic kidney disease
2 variants in the APOL1 gene; relevant for African descent
* FAMILIAL HYPERCHOLESTEROLEMIA
Genetic risk for very high cholesterol, which can increase the risk for heart
disease
24 variants in the LDLR and APOB genes; relevant for European, Lebanese, Old
Order Amish descent
* G6PD DEFICIENCY
Genetic risk for a form of anemia
2 variants in the G6PD gene; relevant for African, Southern European, Kurdish
Jewish, Middle Eastern, Central Asian, South Asian descent
* HEREDITARY AMYLOIDOSIS (TTR-RELATED)
Genetic risk for a form of nerve and heart damage
3 variants in the TTR gene; relevant for African American, West African,
Portuguese, Northern Swedish, Japanese, Irish, British descent
* HEREDITARY HEMOCHROMATOSIS (HFE‑RELATED)
Genetic risk for iron overload
2 variants in the HFE gene; relevant for European descent
* HEREDITARY THROMBOPHILIA
Genetic risk for harmful blood clots
2 variants in the F2 and F5 genes; relevant for European descent
* LATE-ONSET ALZHEIMER'S DISEASE
Genetic risk for a form of dementia
1 variant in the APOE gene; variant found and studied in many ethnicities
* MUTYH-ASSOCIATED POLYPOSIS
Genetic risk for a specific colorectal cancer syndrome
2 variants in the MUTYH gene; relevant for Northern European descent
* PARKINSON'S DISEASE
Genetic risk for a form
of movement impairment
2 variants in the LRRK2 and GBA genes; relevant for European, Ashkenazi
Jewish, North African Berber descent
See sample report See sample report
WELLNESS REPORTS
5+ reports
* Alcohol Flush Reaction
* Caffeine Consumption
* Deep Sleep
* Genetic Weight
* Lactose Intolerance
* Muscle Composition
* Saturated Fat and Weight
* Sleep Movement
See sample report See sample report
CARRIER STATUS REPORTS*
40+ reports
* ARSACS
1 variant in the SACS gene; relevant for French Canadian descent
* AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY
1 variant in the SLC12A6 gene; relevant for French Canadian descent
* AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE
3 variants in the PKHD1 gene
* BETA THALASSEMIA AND RELATED HEMOGLOBINOPATHIES
10 variants in the HBB gene; relevant for Sardinian, Cypriot,
Italian/Sicilian, Greek descent
* BLOOM SYNDROME
1 variant in the BLM gene; relevant for Ashkenazi Jewish descent
* CANAVAN DISEASE
3 variants in the ASPA gene; relevant for Ashkenazi Jewish descent
* CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1A (PMM2-CDG)
2 variants in the PMM2 gene; relevant for Ashkenazi Jewish, Danish descent
* CYSTIC FIBROSIS
29 variants in the CFTR gene; relevant for Ashkenazi Jewish, European,
Hispanic/Latino descent
* D-BIFUNCTIONAL PROTEIN DEFICIENCY
2 variants in the HSD17B4 gene
* DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY
1 variant in the DLD gene; relevant for Ashkenazi Jewish descent
* FAMILIAL DYSAUTONOMIA
1 variant in the ELP1 gene; relevant for Ashkenazi Jewish descent
* FAMILIAL HYPERINSULINISM (ABCC8-RELATED)
3 variants in the ABCC8 gene; relevant for Ashkenazi Jewish descent
* FAMILIAL MEDITERRANEAN FEVER
7 variants in the MEFV gene; relevant for Arab, Armenian, Sephardic Jewish,
Turkish descent
* FANCONI ANEMIA GROUP C
3 variants in the FANCC gene; relevant for Ashkenazi Jewish descent
* GRACILE SYNDROME
1 variant in the BCS1L gene; relevant for Finnish descent
* GAUCHER DISEASE TYPE 1
3 variants in the GBA gene; relevant for Ashkenazi Jewish descent
* GLYCOGEN STORAGE DISEASE TYPE IA
1 variant in the G6PC gene; relevant for Ashkenazi Jewish descent
* GLYCOGEN STORAGE DISEASE TYPE IB
2 variants in the SLC37A4 gene
* HEREDITARY FRUCTOSE INTOLERANCE
4 variants in the ALDOB gene; relevant for European descent
* HERLITZ JUNCTIONAL EPIDERMOLYSIS BULLOSA (LAMB3-RELATED)
3 variants in the LAMB3 gene
* LEIGH SYNDROME, FRENCH CANADIAN TYPE
1 variant in the LRPPRC gene; relevant for French Canadian descent
* LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2D
1 variant in the SGCA gene
* LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2E
1 variant in the SGCB gene; relevant for Amish descent
* LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2I
1 variant in the FKRP gene
* MCAD DEFICIENCY
4 variants in the ACADM gene; relevant for European descent
* MAPLE SYRUP URINE DISEASE TYPE 1B
2 variants in the BCKDHB gene; relevant for Ashkenazi Jewish descent
* MUCOLIPIDOSIS TYPE IV
1 variant in the MCOLN1 gene; relevant for Ashkenazi Jewish descent
* NEURONAL CEROID LIPOFUSCINOSIS (CLN5-RELATED)
1 variant in the CLN5 gene; relevant for Finnish descent
* NEURONAL CEROID LIPOFUSCINOSIS (PPT1-RELATED)
3 variants in the PPT1 gene; relevant for Finnish descent
* NIEMANN-PICK DISEASE TYPE A
3 variants in the SMPD1 gene; relevant for Ashkenazi Jewish descent
* NIJMEGEN BREAKAGE SYNDROME
1 variant in the NBN gene
* NONSYNDROMIC HEARING LOSS AND DEAFNESS, DFNB1 (GJB2-RELATED)
8 variants in the GJB2 gene; relevant for many ethnicities, including
Ashkenazi Jewish, East/Southeast Asian, European, and Ghanaian descent. May
also be relevant for Hispanic/Latino, Northern African/Middle Eastern, and
South Asian descent
* PENDRED SYNDROME AND DFNB4 HEARING LOSS (SLC26A4-RELATED)
6 variants in the SLC26A4 gene
* PHENYLKETONURIA AND RELATED DISORDERS
23 variants in the PAH gene; relevant for Irish, Northern European descent
* PRIMARY HYPEROXALURIA TYPE 2
1 variant in the GRHPR gene
* PYRUVATE KINASE DEFICIENCY
1 variant in the PKLR gene
* RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 1
1 variant in the PEX7 gene
* SALLA DISEASE
1 variant in the SLC17A5 gene; relevant for Finnish, Swedish descent
* SICKLE CELL ANEMIA
1 variant in the HBB gene; relevant for African American, African, Middle
Eastern, South Asian, Caribbean, Mediterranean, Central and South American
descent
* SJÖGREN-LARSSON SYNDROME
1 variant in the ALDH3A2 gene; relevant for Swedish descent
* TAY-SACHS DISEASE
4 variants in the HEXA gene; relevant for Ashkenazi Jewish, Cajun descent
* TYROSINEMIA TYPE I
4 variants in the FAH gene; relevant for French Canadian, Finnish descent
* USHER SYNDROME TYPE 1F
1 variant in the PCDH15 gene; relevant for Ashkenazi Jewish descent
* USHER SYNDROME TYPE 3A
1 variant in the CLRN1 gene; relevant for Ashkenazi Jewish descent
* ZELLWEGER SYNDROME SPECTRUM (PEX1-RELATED)
1 variant in the PEX1 gene
See sample report See sample report
close
SELECT REPORT CATEGORY
Learn more about Genetic Health Risks and Carrier Status reports, genetic
counseling and what to know about test results. For more information about other
reports included in our Health + Ancestry Service, including Wellness, Traits
and Ancestry, click here.
GENETIC HEALTH RISKS
Genetic Health Risk reports tell you about genetic variants associated with
increased risk for certain health conditions.
learn more
CARRIER STATUS
Carrier Status tests tell you whether you carry genetic variants that may not
affect your health, but could affect the health of your family.
learn more
Genetic Health Risks Carrier Status
23ANDME GENETIC HEALTH RISK REPORTS
The following information applies to Genetic Health Risk reports only.
WHAT YOU SHOULD KNOW
23ANDME GENETIC HEALTH RISK REPORTS:
WHAT YOU SHOULD KNOW
Genetic Health Risk reports tell you about genetic variants associated with
increased risk for certain health conditions. They do not diagnose cancer or any
other health conditions or determine medical action.
Having a risk variant does not mean you will definitely develop a health
condition. Similarly, you could still develop the condition even if you don't
have a variant detected. It is possible to have other genetic risk variants not
included in these reports.
Factors like lifestyle and environment can also affect whether a person develops
most health conditions. Our reports cannot tell you about your overall risk for
these conditions, and they cannot determine if you will or will not develop a
condition.
These reports do not replace visits to a healthcare professional. Consult with a
healthcare professional for help interpreting and using genetic results. Results
should not be used to make medical decisions.
Expand content
WE ENCOURAGE YOU TO SPEAK TO A GENETIC COUNSELOR
WE ENCOURAGE YOU TO SPEAK TO A GENETIC COUNSELOR
There are many things to think about when deciding whether genetic testing is
right for you. Although these tests can provide important information about
health risks, they can also be upsetting or raise questions about what the
results mean. Genetic tests also have certain limitations that are important to
understand. Your personal and family medical history, as well as your goals for
testing, should all factor into your decisions about whether and how to test.
A genetic counselor, a healthcare professional with special training in genetic
conditions, will be able to answer your questions and help you make an informed
choice. We recommend that you speak with a genetic counselor before testing, and
also after testing to help you understand your results and what actions you
should take. This is especially important for health conditions that are
preventable or treatable.
GENETIC COUNSELORS CAN HELP YOU NAVIGATE COMMON QUESTIONS, SUCH AS:
* What are the risks and benefits of genetic testing?
* Are there diseases that run in the family?
* How do you handle potentially distressing information?
* What are you hoping to find out from genetic testing?
Talk to your healthcare provider or click here to search for a genetic counselor
near you (this link takes you to a page managed by the National Society of
Genetic Counselors: http://www.aboutgeneticcounselors.com/).
Expand content
WHAT TO KNOW ABOUT GENETIC HEALTH RISK REPORTS
WHAT TO KNOW ABOUT GENETIC HEALTH RISK REPORTS
POSSIBLE TEST RESULTS
Variant(s) not detected
You do not have the variant(s) we tested. Since these tests do not include all
variants that may impact your risk of developing a condition, you may still have
another variant that could affect your risk. Non-genetic factors may also affect
your risk.
Variant(s) detected
You have one or more of the variants we tested. You may be at increased risk for
the condition based on this result. This does not mean you will definitely
develop the condition. Other factors may also affect your risk.
Result not determined
Your test result could not be determined. This can be caused by random test
error or other factors that interfere with the test.
In some cases, the laboratory may not be able to process your sample. If this
happens, we will notify you by email and you may request one free replacement
kit.
Other companies offering genetic risk tests may include different variants for
the same health condition. This means that it's possible to get different
results using a test from a different company.
--------------------------------------------------------------------------------
WHAT TO DO WITH THE RESULTS
If your report says you have variants associated with increased risk
* Consider sharing the result with a healthcare professional.
* Certain results, such as having a variant detected for the BRCA1/ BRCA2
(Selected Variants) report, may warrant prompt follow-up with a healthcare
professional, since effective options may exist to prevent or reduce risk for
disease. Each report will provide more specific guidance.
* Consider sharing your results with relatives. They may also have these
variants. Keep in mind that some people may not want to know information
about genetic health risks.
If your report says you do not have any risk variants detected
* Continue to follow screening and other healthy behaviors recommended by your
healthcare provider. This is because our reports do not cover all factors
that might influence risk.
Concerned about your risk?
* If you have other risk factors for the condition, you should discuss the
condition with a doctor.
* You can also discuss your results with a genetic counselor (this link takes
you to a page managed by the National Society of Genetic Counselors to find a
genetic counselor near you: http://www.aboutgeneticcounselors.com/).
Genetic Health Risk reports are intended to provide you with genetic information
to inform conversations with a healthcare professional. These reports should not
be used to make medical decisions. Always consult with a healthcare professional
before taking any medical action.
Expand content
YOU WILL BE ASKED WHETHER YOU WANT TO RECEIVE CERTAIN GENETIC HEALTH RISK
REPORTS
YOU WILL BE ASKED WHETHER YOU WANT TO RECEIVE CERTAIN GENETIC HEALTH RISK
REPORTS
Some of our reports are about serious diseases that may not have an effective
treatment or cure. Others may have effective treatment or prevention options,
but these actions may carry their own health risks. You may be upset by learning
about genetic risks for these diseases, and about genetic risks for family
members who share DNA. If you tend to feel anxious or have a personal history of
depression or anxiety, this information may be more likely to be upsetting.
Knowing about genetic risks could also affect your ability to get some kinds of
insurance.
You can choose to exclude the following reports individually from your account
before your results are returned to you:
* BRCA1/BRCA2 (Selected Variants)
* MUTYH-Associated Polyposis
* Late-Onset Alzheimer’s Disease
* Parkinson’s Disease
If you are interested in receiving these reports, we recommend that you consult
with a genetic counselor before purchasing. Additional relevant information
about these reports will be provided when you go through the process of setting
your report preferences, after registering your kit.
Expand content
WHAT TO KNOW ABOUT OUR GENETIC HEALTH RISK REPORTS
WHAT TO KNOW ABOUT OUR GENETIC HEALTH RISK REPORTS
Age-Related Macular Degeneration Alpha-1 Antitrypsin Deficiency BRCA1/BRCA2
(Selected Variants) Celiac Disease Chronic Kidney Disease (APOL1-Related)
Familial Hypercholesterolemia G6PD Deficiency Hereditary Amyloidosis
(TTR-Related) Hereditary Hemochromatosis (HFE‑Related) Hereditary Thrombophilia
Late-Onset Alzheimer's Disease MUTYH-Associated Polyposis Parkinson's Disease
Select a Condition
Age-Related Macular Degeneration Alpha-1 Antitrypsin Deficiency BRCA1/BRCA2
(Selected Variants) Celiac Disease Chronic Kidney Disease (APOL1-Related)
Familial Hypercholesterolemia G6PD Deficiency Hereditary Amyloidosis
(TTR-Related) Hereditary Hemochromatosis (HFE‑Related) Hereditary Thrombophilia
Late-Onset Alzheimer's Disease MUTYH-Associated Polyposis Parkinson's Disease
* View sample report here
* View package insert here
WHAT TO KNOW ABOUT:
AGE-RELATED MACULAR DEGENERATION AND OUR TEST
Age-related macular degeneration (AMD) is the most common cause of irreversible
vision loss among older adults. The disease results in damage to the central
part of the retina (the macula), impairing vision needed for reading, driving,
or even recognizing faces. This test includes the two most common variants
associated with an increased risk of developing the condition.
Typical signs and symptoms
* Blurred or distorted vision
* Vision loss
* Yellow fatty deposits in the retina called "drusen"
* Blood or fluid leakage in the retina
Other factors that influence risk
* Smoking
* Age
* Family history
* Ethnicity
* Diet
When symptoms develop
AMD is rarely diagnosed in people under the age of 50. Vision loss related to
AMD usually becomes noticeable in a person's 60s or 70s and tends to worsen over
time.
How it's treated
There is currently no known prevention or cure for AMD. Having regular eye exams
can help detect early signs of the condition. Progression of AMD can be slowed
with the use of certain treatments and medications.
What do we test?
* Tests for the Y402H variant in the CFH gene and the A69S variant in the ARMS2
gene associated with an increased risk of developing AMD.
* Genetic testing for AMD is not currently recommended by any healthcare
professional organizations.
Relevant ethnicities
* The variants included in this test are common in many ethnicities, but are
best studied in people of European descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
ALPHA-1 ANTITRYPSIN DEFICIENCY AND OUR TEST
AAT deficiency is a genetic condition that can lead to lung and liver disease.
It is caused by decreased levels of the alpha-1 antitrypsin (AAT) protein. This
test includes the two most common variants linked to this deficiency.
Potential signs and symptoms of AAT deficiency
* Shortness of breath and wheezing
* Chronic cough
* Recurrent lung infections
* Lung disease, including emphysema
* Liver disease, including cirrhosis
Other factors that increase risk
Genetic variants are the only risk factor for AAT deficiency. In people with
genetic risk variants, the chances of developing symptoms of AAT deficiency
depend on lifestyle, environment, and other factors.
* Smoking
* Occupational and other exposures
* Personal or family history of lung disease
* Certain infections
When symptoms develop
Because it is a genetic condition, AAT deficiency is present at birth. Symptoms
of lung disease usually appear later in life, and age of onset is strongly
affected by smoking. Some people may never have symptoms of lung disease,
especially if they don't smoke. Liver problems may develop anytime from infancy
to adulthood.
How it's treated
There is currently no known cure. People with AAT deficiency are encouraged to
avoid smoking and consider getting certain vaccinations. For those with
symptoms, treatment focuses on management of lung and liver problems. Direct
replacement of the AAT protein into the blood may be used to slow the
progression of lung disease. Lung and liver transplants may be beneficial in
some cases.
What do we test?
* Tests for the PI*Z and PI*S variants in the SERPINA1 gene linked to AAT
deficiency.
* Testing for genetic variants associated with AAT deficiency is recommended
under certain circumstances by several health professional organizations,
including the American Thoracic Society.
Relevant ethnicities
* The variants included in this test are most common and best studied in people
of European descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
BRCA1/BRCA2 (SELECTED VARIANTS) AND OUR TEST
Specific genetic variants in the BRCA1 and BRCA2 genes are associated with an
increased risk of developing certain cancers, including breast cancer (in women
and men) and ovarian cancer. These variants may also be associated with an
increased risk for prostate cancer and certain other cancers. This test includes
three genetic variants in the BRCA1 and BRCA2 genes that are most common in
people of Ashkenazi Jewish descent.
BRCA1- and BRCA2-associated cancer risks
* Women with a variant have a 45-85% chance of developing breast cancer by age
70 and up to a 46% chance of developing ovarian cancer by age 70.
* Men with a variant have up to an 8% lifetime risk of developing male breast
cancer and may have an increased risk for prostate cancer.
* Men and women with a variant may also have an increased risk for pancreatic
cancer and melanoma.
* Learn more about these cancer risks
Other factors that affect cancer risk
* Age
* Family history
* Obesity
* Lifestyle factors
When cancers develop
In general, the chances of developing cancer increase as a person gets older.
However, women with a BRCA1 or BRCA2 variant have an increased risk for
early-onset breast cancer. Men with a variant may develop earlier and more
aggressive prostate cancer.
Screening and prevention
Guidelines recommend that women with a BRCA1 or BRCA2 variant should be screened
for breast cancer earlier and more often. Risk-reducing surgery or medication
may also be offered. Men with a variant should be screened for breast cancer.
Screening guidelines for prostate cancer vary. People with a BRCA1 or BRCA2
variant and a family history of pancreatic cancer may also be offered pancreatic
cancer screening. This test is not a substitute for visits to a healthcare
professional for recommended screenings. Results should be confirmed in a
clinical setting before taking any medical action. It is important to talk with
a healthcare professional before taking any medical action.
What do we test?
* We test for three specific genetic variants: the 185delAG and 5382insC
variants in the BRCA1 gene and the 6174delT variant in the BRCA2 gene. These
variants are associated with an increased risk of developing certain cancers.
* We do not test for all possible variants in the BRCA1 and BRCA2 genes. More
than 1,000 variants in these genes are known to increase cancer risk.
* This test does not include variants in other genes linked to hereditary
cancers.
* Genetic testing for BRCA1 and BRCA2 variants in the general population is not
currently recommended by any healthcare professional organizations.
Important ethnicities
* The three variants included in this test are most commonly found in people of
Ashkenazi Jewish descent.
* In 23andMe customers of other ethnicities, between 0% and 0.1% of individuals
has one of the three variants in this report.
* This test does not include most of the BRCA1 and BRCA2 variants found in
people of other ethnicities. Therefore, a "variants not detected" result is
less informative for people with no Ashkenazi Jewish ancestry.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
View Frequently Asked Questions about this report here
WHAT TO KNOW ABOUT:
CELIAC DISEASE AND OUR TEST
Celiac disease is an autoimmune condition in which the consumption of gluten
(found in wheat, barley, and rye) can result in damage to the small intestine.
Celiac disease can lead to both digestive and non-digestive problems. This test
includes two common variants associated with an increased risk of developing
this condition.
Typical signs and symptoms
* Diarrhea, gas, and bloating
* Poor appetite
* Skin rashes
* Fatigue
* Anemia
* Headache
Other factors that influence risk
* Gluten
* Family history
* Other conditions
When symptoms develop
Celiac disease can develop anytime from infancy to adulthood, most commonly
between the ages of 10 and 40. In people with celiac disease, symptoms occur
after consuming gluten.
How it's treated
Celiac disease can be effectively treated by removing all sources of gluten from
the diet. This includes foods and drinks made with wheat, barley, and rye.
What do we test?
* Tests for variants near the HLA-DQA1 and HLA-DQB1 genes linked to the
HLA-DQ2.5 and HLA-DQ8 haplotypes. These haplotypes are associated with celiac
disease.
* Genetic testing for celiac disease is recommended under certain circumstances
by several health professional organizations, including the American College
of Gastroenterology.
Relevant ethnicities
* The variants included in this test are common in many ethnicities, but are
best studied in people of European descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
CHRONIC KIDNEY DISEASE (APOL1-RELATED) AND OUR TEST
Chronic kidney disease is a condition in which the kidneys stop working properly
over time. Because the kidneys serve as filters for our blood, chronic kidney
disease can cause excess fluid and waste from the blood to build up in the body.
This can lead to health problems including bone damage, heart disease, and
stroke. This test includes two variants in the APOL1 gene that can increase the
risk of developing chronic kidney disease. These variants are most common in
people of African descent.
Typical signs and symptoms
* Chronic kidney disease often has no symptoms at first. Early chronic kidney
disease is often diagnosed using blood and urine tests that look for loss of
kidney function (called reduced glomerular filtration rate) and the presence
of protein in the urine (called albuminuria).
* Symptoms such as nausea, fatigue, high blood pressure, and swelling of the
feet and ankles (called edema) can occur as the condition progresses.
* Complications of chronic kidney disease include heart disease or stroke,
anemia, bone problems, a weakened immune system, and kidney failure.
Other factors that influence risk for chronic kidney disease
* High blood pressure
* Diabetes
* Age
* Ethnicity
* Family history
* Other health conditions
When symptoms develop
In general, the risk of developing chronic kidney disease increases with age.
Most cases of chronic kidney disease are diagnosed in people age 65 and over.
However, people with APOL1-related chronic kidney disease tend to develop the
condition at an earlier age. Their kidney function also tends to decline more
quickly than people whose chronic kidney disease is due to other factors.
How it's treated
Treatment for chronic kidney disease depends on the severity of the condition.
When detected early, chronic kidney disease may be treated in part through
lifestyle changes to slow progression. Medications may also be prescribed to
treat symptoms. If the condition progresses to end-stage kidney disease (also
called kidney failure), patients may require ongoing dialysis (a procedure that
artificially filters waste and extra fluid from the blood) or a kidney
transplant.
What do we test?
* Tests for the S342G and N388_Y389del variants in the APOL1 gene, which are
used to define the G1 and G2 haplotypes, respectively. These haplotypes are
linked to an increased risk for chronic kidney disease.
* Genetic testing for APOL1 variants in the general population is not currently
recommended by any healthcare professional organizations.
* Most cases of chronic kidney disease are not caused by the APOL1 variants in
this report.
Relevant ethnicities
* The variants included in this test are most common and best studied in people
of African descent.
* These variants are also found in people with African ancestry, including
people of Hispanic or Latino descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
FAMILIAL HYPERCHOLESTEROLEMIA AND OUR TEST
Familial hypercholesterolemia (FH) is a genetic condition associated with very
high levels of cholesterol in the blood, specifically low-density lipoprotein
(LDL), or "bad" cholesterol. High cholesterol due to FH increases the risk for
early cardiovascular disease, which can lead to a heart attack. This test
includes 24 genetic variants linked to FH.
Typical signs and symptoms
* Elevated total and LDL cholesterol levels
* Heart disease, heart attack, or chest pain
* In some cases, cholesterol deposits may build up in the skin or tendons
(xanthomas), under the skin in the eyelids (xanthelasmas), or around the
cornea of the eye (corneal arcus)
Other factors that influence risk
* Family history
* Age
* High blood pressure
* Smoking
* Other genetic factors
* Lifestyle
When symptoms develop
Because it is a genetic condition, FH is present at birth, meaning most people
with this condition have high LDL cholesterol levels from a young age. Since
many people with FH show no physical symptoms, this condition is typically
diagnosed with a blood test for cholesterol. However, some people with FH may
not be diagnosed until after experiencing symptoms related to early heart
disease, including chest pain or heart attack.
How it's treated
Early and active treatment of FH can substantially reduce the risk for heart
disease. FH treatment focuses on lowering LDL cholesterol levels, and FH is
usually treated with cholesterol-lowering medications. Lifestyle modifications,
including diet, exercise, and weight control can help lower LDL cholesterol
levels. But these changes are generally not enough to effectively manage the
condition. In extreme cases of FH, LDL-apheresis, a procedure that filters
cholesterol out of the blood, can be used when other treatments have failed.
What do we test?
* Tests for one variant in the APOB gene and 23 variants in the LDLR gene.
These variants are linked to having very high LDL cholesterol levels, which
is associated with an increased risk for heart disease.
* Genetic testing for FH in the general population is not currently recommended
by any healthcare professional organizations.
* However, the U.S. CDC recommends that screening using cholesterol testing
with or without DNA analysis should be conducted on relatives of people with
familial high cholesterol.
* Heart disease risk associated with FH variants varies from person to person.
Overall risk depends on family history and other factors.
Relevant ethnicities
* The majority of the variants included in this test are most commonly found in
people of European and Lebanese descent, as well as in the Old Order Amish.
In addition, some of these variants have also been found in other
ethnicities.
* However, more than 1,000 variants have been linked to FH in people of
European descent, as well as in people of other ethnicities. This test does
not include the majority of those variants.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
G6PD DEFICIENCY AND OUR TEST
G6PD deficiency is a common genetic condition caused by defects in an enzyme
called glucose-6-phosphate dehydrogenase, or G6PD. The G6PD enzyme helps protect
red blood cells from damage. In people with G6PD deficiency, red blood cells are
destroyed upon exposure to certain environmental triggers, which can lead to
episodes of anemia. This test includes two common variants linked to G6PD
deficiency.
Typical signs and symptoms
* Anemia
* Dark urine
* Fatigue
* Pale skin
* Shortness of breath
* Jaundice (yellowing of the skin and eyes), especially in newborns
Other factors that influence risk
* Certain medications
* Certain infections
* Certain foods
When symptoms develop
Because it is a genetic condition, G6PD deficiency is present at birth. However,
people with this condition typically don't develop symptoms unless they are
exposed to certain triggering factors. Many people with G6PD deficiency never
develop symptoms.
How it's treated
Most people with G6PD deficiency do not require treatment. People with G6PD
deficiency often manage their condition by avoiding certain medications and
foods that may trigger symptoms. If a person is exposed to a trigger and
develops anemia, symptoms usually clear up on their own. However, in some cases
patients may require a blood transfusion.
What do we test?
* Tests for the V68M and S188F variants in the G6PD gene linked to G6PD
deficiency.
* Genetic testing for G6PD deficiency in adults in the general population is
not currently recommended by any healthcare professional organizations.
Relevant ethnicities
* The V68M variant included in this test is most common and best studied in
people of African descent. This variant is also found in people with African
ancestry, including people of Hispanic or Latino descent.
* The S188F variant included in this test is most common and best studied in
people of Southern European, Kurdish Jewish, Middle Eastern, Central Asian,
and South Asian descent.
* This test does not include variants that are more common in people of East
and Southeast Asian descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
HEREDITARY AMYLOIDOSIS (TTR-RELATED) AND OUR TEST
TTR-related hereditary amyloidosis is a genetic condition caused by the buildup
of a protein called transthyretin (TTR) in the body's tissues and organs. This
protein buildup, called amyloidosis, can damage the nerves, the heart, and other
parts of the body. This test includes three of the most common genetic variants
linked to TTR-related hereditary amyloidosis.
Typical signs and symptoms
Symptoms can vary widely depending on which TTR variant a person has and the
location(s) of TTR protein buildup. Symptoms can vary even among people with the
same variant. People with TTR-related hereditary amyloidosis may experience:
* Cardiomyopathy (heart damage), characterized by thickening of the walls of
the heart, which can lead to heart failure.
* Peripheral neuropathy (damage to the nerves that connect the spinal cord to
the rest of the body, including the arms and legs), characterized by symptoms
including carpal tunnel syndrome as well as tingling, numbness, or burning in
the hands, legs, or feet.
* Autonomic neuropathy (damage to the nerves that help control the internal
organs), characterized by symptoms including constipation, diarrhea, sexual
dysfunction, and dizziness.
Other factors that influence risk
* Age
* Sex
* Ethnicity
* Other genetic variants
When symptoms develop
TTR-related hereditary amyloidosis typically develops in adulthood, but age of
onset can vary widely. People with the V122I variant typically develop symptoms
after the age of 60. People with the V30M variant can develop symptoms as early
as their 20s or as late as their 90s, depending on ethnicity and family history.
People with the T60A variant typically develop symptoms between 45 and 80 years
of age.
How it's treated
TTR-related hereditary amyloidosis is often managed by treating the symptoms
through medications or surgical intervention. However, some recently approved
medications work by decreasing the production of the TTR protein, which makes it
less likely to build up in the body's tissues and organs. In addition, most of
the TTR protein is produced in the liver, and liver transplants have been
beneficial for some patients. Scientists are currently working on other
treatment options for this condition.
What do we test?
* Tests for three variants in the TTR gene linked to TTR-related hereditary
amyloidosis.
* Genetic testing for TTR-related hereditary amyloidosis in the general
population is not currently recommended by any healthcare professional
organizations.
Relevant ethnicities
* V122I: Most common and best studied in African Americans and people of West
African descent.
* V30M: Most common and best studied in people of Portuguese, Northern Swedish,
and Japanese descent.
* T60A: Most common and best studied in people of Irish descent and also found
in people of British descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
HEREDITARY HEMOCHROMATOSIS (HFE‑RELATED) AND OUR TEST
Hereditary hemochromatosis is a genetic condition characterized by absorption of
too much dietary iron. This may lead to iron overload, which can cause damage to
the joints and certain organs, such as the liver, skin, heart, and pancreas.
This test includes the two most common variants linked to this condition.
Typical signs and symptoms
* Joint and abdominal pain
* Fatigue and weakness
* Darkening of the skin
* Liver disease
* Heart disease
* Diabetes
Other factors that influence risk
* Age
* Sex
* Alcohol consumption
* Diet
When symptoms develop
Because it is a genetic condition, hereditary hemochromatosis is present at
birth. Many people with this condition never develop iron overload. Of those who
do develop iron overload, only a small number develop symptoms. If men develop
symptoms, they typically appear between 40 and 60 years of age. Women rarely
develop symptoms, and when they do it tends to be after menopause.
How it's treated
People with hereditary hemochromatosis are typically monitored for symptoms or
complications. Iron overload related to hereditary hemochromatosis is a
treatable condition. In some patients, having blood drawn on a regular basis can
help lower iron levels. People with iron overload are encouraged to avoid
drinking alcohol to minimize liver damage and to limit intake of iron-rich food.
What do we test?
* Tests for the C282Y and the H63D variants in the HFE gene linked to
hereditary hemochromatosis.
* Genetic testing for hereditary hemochromatosis is recommended under certain
circumstances by several health professional organizations, including the
American Association for the Study of Liver Diseases and the European
Association for the Study of the Liver.
Relevant ethnicities
* The variants included in this test are best studied in people of European
descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
HEREDITARY THROMBOPHILIA AND OUR TEST
Hereditary thrombophilia is a predisposition to developing harmful blood clots.
These harmful blood clots most commonly form in the legs and can travel to the
lungs. This test includes the two most common variants linked to hereditary
thrombophilia.
Typical signs and symptoms of harmful blood clots
* Pain, tenderness, swelling, or redness in one or both legs
* Chest pain
* Difficulty breathing
* Hereditary thrombophilia may also be associated with recurrent late pregnancy
loss in some women.
Other risk factors for harmful blood clots
* Major surgery
* Age
* Prolonged immobility
* Oral contraceptives
* Obesity
When symptoms develop
Hereditary thrombophilia is genetic, but the risk of developing harmful blood
clots increases with age and other factors.
How it's treated
Hereditary thrombophilia typically does not require any ongoing treatment. In
some cases medications can be used to prevent harmful blood clots from forming.
Medications and surgery can also be used to break up existing clots.
What do we test?
* Tests for the Factor V Leiden variant in the F5 gene and the Prothrombin
G20210A variant in the F2 gene linked to hereditary thrombophilia.
* Testing for genetic variants associated with hereditary thrombophilia is
recommended by ACMG under certain circumstances. This test includes the two
variants recommended for testing by ACMG.
Relevant ethnicities
* The variants included in this test are most common and best studied in people
of European descent.
* These variants are also found in populations with European ancestry, like
African Americans and Hispanics or Latinos.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
LATE-ONSET ALZHEIMER'S DISEASE AND OUR TEST
Alzheimer's disease is characterized by memory loss, cognitive decline, and
personality changes. Late-onset Alzheimer's disease is the most common form of
Alzheimer's disease, developing after age 65. Many factors, including genetics,
can influence a person's chances of developing the condition. This test includes
the most common genetic variant associated with late-onset Alzheimer's disease.
Typical signs and symptoms
* Memory loss that worsens over time
* Mood and personality changes
* Trouble planning or solving problems
* Confusion with place or time
* Difficulty performing daily life activities
Other factors that influence risk
* Age
* Sex
* Family history
* Heart health
* Lifestyle
* Intellectual activity
When symptoms develop
Late-onset Alzheimer's disease develops after 65 years of age.
How it's treated
There is currently no known prevention or cure for Alzheimer's disease.
Medication may be used to delay or ease symptoms.
What do we test?
* Tests for the ε4 variant in the APOE gene associated with an increased risk
of developing late-onset Alzheimer's disease.
* This test does not identify or report on the ε2 and ε3 variants of the APOE
gene. These variants are not associated with an increased risk of developing
Alzheimer's disease.
* Genetic testing for late-onset Alzheimer's disease is not currently
recommended by any healthcare professional organizations.
Relevant ethnicities
* The ε4 variant included in this test is found and has been studied in many
ethnicities. Detailed risk estimates have been studied the most in people of
European descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
MUTYH-ASSOCIATED POLYPOSIS AND OUR TEST
MUTYH-associated polyposis (MAP) is one of the three main hereditary colorectal
cancer syndromes. People with two variants or two copies of a variant in the
MUTYH gene tend to develop colon and rectal polyps and have an increased risk of
developing colorectal cancer. They may also have a slightly increased risk of
developing certain other cancers. This test includes two genetic variants in the
MUTYH gene that are most common and best studied in people of Northern European
descent.
When it develops
Most colorectal cancers start as abnormal growths on the inner lining of the
colon or rectum, called polyps. People with MAP tend to develop between ten and
a hundred polyps by age 50. These polyps can become cancerous. However, some
people with MAP may develop colorectal cancer in the absence of colon or rectal
polyps.
Lifetime cancer risks
* Without appropriate surveillance, people with two MUTYH variants or two
copies of a MUTYH variant have a 43-100% chance of developing colorectal
cancer in their lifetime. They may also have a slightly increased risk for
certain other cancers.
* Scientists are uncertain as to how having one MUTYH variant may influence a
person’s colorectal cancer risk. Some studies suggested a slightly increased
risk, particularly if the person has a family history of colorectal cancer.
Other factors that influence cancer risk
* Age
* Family history
* Ethnicity
* Lifestyle factors
* Other genetic factors not included in this test
Screening and prevention
Professional guidelines recommend that individuals with two MUTYH variants or
two copies of a MUTYH variant should be screened for colon and rectal polyps
earlier and more often, and undergo surveillance for small bowel polyps.
Current U.S. guidelines recommend that individuals with one MUTYH variant follow
colorectal screening recommendations for the general population. However, for
people who have had a first-degree relative with colorectal cancer and people
who have a personal history of colorectal polyps (regardless of whether they
have a MUTYH variant), these guidelines have different recommendations, which
may include screening earlier and more often than the general population.
What do we test?
* We test for the Y179C and G396D variants in the MUTYH gene. People with two
variants or two copies of a variant have an increased risk of developing
colorectal cancer. They may also have a slightly increased risk for certain
other cancers.
* We do not test for all possible variants in the MUTYH gene. More than 100
MUTYH variants are known to increase colorectal cancer risk.
* This test does not include variants in other genes that are linked to other
hereditary colorectal cancer syndromes, such as Lynch syndrome and familial
adenomatous polyposis (FAP).
* Genetic testing for MUTYH variants in the general population is not currently
recommended by any healthcare professional organizations.
* Cancer risk associated with MUTYH variants varies from person to person.
Overall risk depends on family history and other factors.
Relevant ethnicities
* The variants included in this test are most common and best studied in people
of Northern European descent. However, these two variants have also been
found in other ethnicities.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
PARKINSON'S DISEASE AND OUR TEST
Parkinson's disease is characterized by tremor, muscle stiffness, and problems
with movement. Many factors, including genetics, can influence a person's
chances of developing Parkinson's disease. This test includes two genetic
variants associated with increased risk of developing the condition.
Typical signs and symptoms
* Tremor
* Muscle stiffness
* Slow movements
* Problems with balance
* Memory loss in some cases
Other factors that influence risk
* Age
* Sex
* Family history
* Exposure to certain chemicals
When symptoms develop
Parkinson's disease typically develops in adulthood, after 55 years of age.
How it's treated
There is currently no known prevention or cure for Parkinson's disease. Certain
medications may be used to delay or ease symptoms. Speech, physical, and
occupational therapies may also help with symptom management.
What do we test?
* Tests for the G2019S variant in the LRRK2 gene and the N370S variant in the
GBA gene associated with an increased risk of developing Parkinson's disease.
* Genetic testing for Parkinson's disease is not currently recommended by any
healthcare professional organizations.
Relevant ethnicities
* The variants included in this test are most common and best studied in people
of European, Ashkenazi Jewish, and North African Berber descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
--------------------------------------------------------------------------------
View sample report here
View sample report here
View package insert here
Expand content
23ANDME CARRIER STATUS TESTS
The following information applies to Carrier Status reports only.
WHAT YOU SHOULD KNOW
23ANDME CARRIER STATUS TESTS:
WHAT YOU SHOULD KNOW
Carrier status tests detect genetic variants that can cause inherited
conditions. These variants are often found primarily in certain ethnicities.
Being a carrier means you have one variant for the condition. Carriers typically
don't have the condition but can pass the variant to their children.
Knowing your carrier status is important when having children. If you and your
partner are both carriers, you may have a child with the condition.
Genetic counseling can help you understand your results and options. It is
recommended before testing, and also if you are a carrier.
Expand content
SHOULD YOU SPEAK TO A GENETIC COUNSELOR?
SHOULD YOU SPEAK TO A GENETIC COUNSELOR?
We encourage you to learn more so you can decide whether testing is right for
you. A genetic counselor, a healthcare professional with special training in
genetic conditions, will be able to answer your specific questions and help you
make an informed decision.
GENETIC COUNSELORS CAN HELP YOU NAVIGATE COMMON QUESTIONS, SUCH AS:
* What are the risks and benefits of testing?
* Are there diseases that run in the family?
* How do you handle potentially distressing information?
* What are you hoping to find out from genetic testing?
Talk to your healthcare provider or click here to search for a genetic counselor
near you (this link takes you to a page managed by the National Society of
Genetic Counselors: http://www.aboutgeneticcounselors.com/).
Expand content
WHAT TO KNOW ABOUT TEST RESULTS
WHAT TO KNOW ABOUT TEST RESULTS
POSSIBLE TEST RESULTS*
0 Variants
You do not have the variant(s) we tested. There is still a chance that you could
have a variant not covered by this test.
1 Variant**
You are a carrier and could pass the variant on to each of your children.
2 Variants***
You will most likely pass a variant on to each of your children.
Result not determined
Your result could not be determined.
* For some reports, a customer may receive a result indicating that they have
two copies of a variant. In these cases, the customer will pass a variant on to
each of his or her children.
** For some reports, customers with one copy of a variant will also be told that
they are at risk for developing symptoms of the condition.
*** For some reports, customers with two variants (or two copies of a variant)
will also be told that they are at risk for developing symptoms of the
condition.
--------------------------------------------------------------------------------
WHAT TO DO WITH THE RESULTS:
Have a family history of a genetic condition? Planning to have children?
* Share your results with your doctor and discuss further testing options.
* You can also discuss your results with a genetic counselor (this link takes
you to a page managed by the National Society of Genetic Counselors to find a
genetic counselor near you: http://www.aboutgeneticcounselors.com/).
--------------------------------------------------------------------------------
Consider sharing your results with relatives.
* Your information – as well as knowing their own carrier status – may be
useful to them.
Expand content
WHAT TO KNOW ABOUT OUR CARRIER STATUS TESTS
WHAT TO KNOW ABOUT OUR CARRIER STATUS TESTS
ARSACS Agenesis of the Corpus Callosum with Peripheral Neuropathy Autosomal
Recessive Polycystic Kidney Disease Beta Thalassemia and Related
Hemoglobinopathies Bloom Syndrome Canavan Disease Congenital Disorder of
Glycosylation Type 1a (PMM2-CDG) Cystic Fibrosis D-Bifunctional Protein
Deficiency Dihydrolipoamide Dehydrogenase Deficiency Familial Dysautonomia
Familial Hyperinsulinism (ABCC8-Related) Familial Mediterranean Fever Fanconi
Anemia Group C GRACILE Syndrome Gaucher Disease Type 1 Glycogen Storage Disease
Type Ia Glycogen Storage Disease Type Ib Hereditary Fructose Intolerance Herlitz
Junctional Epidermolysis Bullosa (LAMB3-Related) Leigh Syndrome, French Canadian
Type Limb-Girdle Muscular Dystrophy Type 2D Limb-Girdle Muscular Dystrophy Type
2E Limb-Girdle Muscular Dystrophy Type 2I MCAD Deficiency Maple Syrup Urine
Disease Type 1B Mucolipidosis Type IV Neuronal Ceroid Lipofuscinosis
(CLN5-Related) Neuronal Ceroid Lipofuscinosis (PPT1-Related) Niemann-Pick
Disease Type A Nijmegen Breakage Syndrome Nonsyndromic Hearing Loss and
Deafness, DFNB1 (GJB2-Related) Pendred Syndrome and DFNB4 Hearing Loss
(SLC26A4-Related) Phenylketonuria and Related Disorders Primary Hyperoxaluria
Type 2 Pyruvate Kinase Deficiency Rhizomelic Chondrodysplasia Punctata Type 1
Salla Disease Sickle Cell Anemia Sjögren-Larsson Syndrome Tay-Sachs Disease
Tyrosinemia Type I Usher Syndrome Type 1F Usher Syndrome Type 3A Zellweger
Syndrome Spectrum (PEX1-Related)
Select a Condition
ARSACS Agenesis of the Corpus Callosum with Peripheral Neuropathy Autosomal
Recessive Polycystic Kidney Disease Beta Thalassemia and Related
Hemoglobinopathies Bloom Syndrome Canavan Disease Congenital Disorder of
Glycosylation Type 1a (PMM2-CDG) Cystic Fibrosis D-Bifunctional Protein
Deficiency Dihydrolipoamide Dehydrogenase Deficiency Familial Dysautonomia
Familial Hyperinsulinism (ABCC8-Related) Familial Mediterranean Fever Fanconi
Anemia Group C GRACILE Syndrome Gaucher Disease Type 1 Glycogen Storage Disease
Type Ia Glycogen Storage Disease Type Ib Hereditary Fructose Intolerance Herlitz
Junctional Epidermolysis Bullosa (LAMB3-Related) Leigh Syndrome, French Canadian
Type Limb-Girdle Muscular Dystrophy Type 2D Limb-Girdle Muscular Dystrophy Type
2E Limb-Girdle Muscular Dystrophy Type 2I MCAD Deficiency Maple Syrup Urine
Disease Type 1B Mucolipidosis Type IV Neuronal Ceroid Lipofuscinosis
(CLN5-Related) Neuronal Ceroid Lipofuscinosis (PPT1-Related) Niemann-Pick
Disease Type A Nijmegen Breakage Syndrome Nonsyndromic Hearing Loss and
Deafness, DFNB1 (GJB2-Related) Pendred Syndrome and DFNB4 Hearing Loss
(SLC26A4-Related) Phenylketonuria and Related Disorders Primary Hyperoxaluria
Type 2 Pyruvate Kinase Deficiency Rhizomelic Chondrodysplasia Punctata Type 1
Salla Disease Sickle Cell Anemia Sjögren-Larsson Syndrome Tay-Sachs Disease
Tyrosinemia Type I Usher Syndrome Type 1F Usher Syndrome Type 3A Zellweger
Syndrome Spectrum (PEX1-Related)
* View sample report here
* View package insert here
WHAT TO KNOW ABOUT:
ARSACS AND OUR TEST
ARSACS is a rare genetic disorder characterized by loss of sensation and muscle
control, as well as muscle stiffness that worsens over time. A person must have
two variants in the SACS gene in order to have this condition.
Typical signs and symptoms
* Muscle stiffness that worsens over time
* Loss of sensation in hands and feet that worsens over time
* Impaired movement and balance that worsens over time
When symptoms develop
Symptoms typically develop during early childhood.
How it's treated:
There is currently no known cure. Treatment focuses on managing symptoms and
providing supportive care through speech, physical, and occupational therapy.
What do we test?
1 variant in the SACS gene.
* There are currently no professional guidelines in the U.S. for carrier
testing for this condition.
Relevant ethnicities:
* This test is most relevant for people of French Canadian descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY AND OUR TEST
ACCPN is a rare genetic disorder. It is characterized by an incomplete
connection between the two sides of the brain. This causes developmental
disability, weakness, and loss of sensation. A person must have two variants in
the SLC12A6 gene in order to have this condition.
Typical signs and symptoms
* Weakness and sensory loss that worsens over time
* Poor or absent reflexes
* Tremors
* Developmental disability
* Shortened lifespan
When symptoms develop
Symptoms typically develop during infancy.
How it's treated:
There is currently no known cure. Treatment focuses on physical and occupational
therapy as well as other forms of supportive care as symptoms worsen, often into
adulthood.
What do we test?
1 variant in the SLC12A6 gene.
* There are currently no professional guidelines in the U.S. for carrier
testing for this condition.
Relevant ethnicities:
* This test is most relevant for people of French Canadian descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE AND OUR TEST
ARPKD is a rare genetic disorder. It is characterized by kidney, liver, and lung
problems as well as urinary tract infections and high blood pressure. A person
must have two variants in the PKHD1 gene in order to have this condition.
Typical signs and symptoms
* Kidney disease
* Liver disease
* Respiratory problems
* High blood pressure
* Urinary tract infections
When symptoms develop
Symptoms typically develop before birth or during infancy.
How it's treated:
There is currently no known cure. Treatment focuses on managing the symptoms of
kidney, lung, and liver disease, as well as managing blood pressure.
What do we test?
3 variants in the PKHD1 gene.
* This test does not include a large fraction of PKHD1 variants that cause
ARPKD in any ethnicity.
* There are currently no professional guidelines in the U.S. for carrier
testing for this condition.
Relevant ethnicities:
* This test does not include a large fraction of PKHD1 variants that cause
ARPKD in any ethnicity.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
BETA THALASSEMIA AND RELATED HEMOGLOBINOPATHIES AND OUR TEST
Beta thalassemia is a genetic disorder characterized by anemia and fatigue as
well as bone deformities and organ problems. A person must have two variants in
the HBB gene in order to have this condition.
Typical signs and symptoms
* Anemia
* Fatigue
* Enlarged liver and spleen
* Poor growth and weight gain
* Bone deformities
* Iron buildup in multiple organs
When symptoms develop
Symptoms typically develop any time from late infancy (severe form) into
adulthood (intermediate form).
How it's treated:
Treatment focuses on managing symptoms and preventing complications. Some
individuals may require frequent blood transfusions.
What do we test?
10 variants in the HBB gene.
* Symptoms of beta thalassemia may vary between people with the condition
depending on the variants involved.
* Carrier screening for beta thalassemia and related hemoglobinopathies is
recommended by ACOG via complete blood count and hemoglobin electrophoresis
for people of African, Southeast Asian, Mediterranean, Middle Eastern, and
West Indian descent considering having children.
Relevant ethnicities:
* This test is most relevant for people of Cypriot, Greek, Italian, and
Sardinian descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
BLOOM SYNDROME AND OUR TEST
Bloom syndrome is a rare genetic disorder characterized by impaired growth and
increased risk of infections and cancer. A person must have two variants in the
BLM gene in order to have this condition.
Typical signs and symptoms
* Small body size
* Recurring infections
* Cancer at a young age
* Sun-sensitive skin
* Infertility in men
* Early menopause in women
When symptoms develop
Symptoms typically develop during infancy.
How it's treated:
There is currently no known cure. Treatment focuses on managing symptoms and
preventing complications such as infection and cancer.
What do we test?
1 variant in the BLM gene.
* Symptoms of Bloom syndrome may vary between people with the condition even if
they have the same genetic variants.
* Carrier testing for Bloom syndrome is recommended by the American College of
Medical Genetics (ACMG) for people of Ashkenazi Jewish descent considering
having children. This test includes the variant recommended for testing by
ACMG.
Relevant ethnicities:
* This test is most relevant for people of Ashkenazi Jewish descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
CANAVAN DISEASE AND OUR TEST
Canavan disease is a rare genetic disorder characterized by a loss of nerve cell
function in the brain that worsens over time. A person must have two variants in
the ASPA gene in order to have this condition.
Typical signs and symptoms
* Developmental disability
* Gradual loss of muscle tone
* Seizures
* Difficulty swallowing
When symptoms develop
Symptoms typically develop during infancy.
How it's treated:
There is currently no known cure. Treatment focuses on preventing complications
by monitoring diet, treating infectious diseases, and managing seizures.
What do we test?
3 variants in the ASPA gene.
* Carrier testing for Canavan disease is recommended by the American College of
Medical Genetics (ACMG) for people of Ashkenazi Jewish descent considering
having children. This test includes the two variants recommended for testing
by ACMG.
Relevant ethnicities:
* This test is most relevant for people of Ashkenazi Jewish descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1A (PMM2-CDG) AND OUR TEST
PMM2-CDG is a rare genetic disorder that affects the nervous system and other
parts of the body. It is characterized by developmental delay, muscle weakness,
and failure to gain weight. A person must have two variants in the PMM2 gene in
order to have this condition.
Typical signs and symptoms
* Developmental delay
* Muscle weakness
* Failure to gain weight
* Small head size and distinct facial features
When symptoms develop
Symptoms typically develop in infancy.
How it's treated:
There is currently no known cure. Treatment focuses on nutritional,
occupational, speech, and physical therapy.
What do we test?
2 variants in the PMM2 gene.
* Severity of symptoms can vary in people with this disorder, even when the
same variants are involved.
* There are currently no professional guidelines in the U.S. for carrier
testing for this condition.
Relevant ethnicities:
* This test is most relevant for people of Ashkenazi Jewish and Danish descent.
* This test does not include a large fraction of PMM2 variants that cause
PMM2-CDG in people of Dutch descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
CYSTIC FIBROSIS AND OUR TEST
Cystic fibrosis is a rare genetic disorder characterized by impaired lung and
digestive function. A person must have two variants in the CFTR gene in order to
have this condition.
Typical signs and symptoms
* Chronic cough
* Lung infections
* Pancreatic insufficiency
* Malnutrition
* Infertility in males
When symptoms develop
Symptoms typically develop during infancy.
How it's treated:
There is currently no known cure. Treatment focuses on managing symptoms and
preventing complications such as lung infections and malnutrition.
What do we test?
29 variants in the CFTR gene.
* Symptoms of cystic fibrosis may vary depending on the variants involved.
* the American College of Medical Genetics (ACMG) recommends carrier testing
for cystic fibrosis for people of all ethnicities considering having
children. This test includes 22 of 23 variants recommended for testing by
ACMG.
Relevant ethnicities:
* This test is most relevant for people of European, Hispanic/Latino, and
Ashkenazi Jewish descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
D-BIFUNCTIONAL PROTEIN DEFICIENCY AND OUR TEST
DBPD is a rare genetic disorder. It is characterized by abnormal muscle tone,
developmental disability, seizures, and early death. A person must have two
variants in the HSD17B4 gene in order to have this condition.
Typical signs and symptoms
* Abnormal muscle tone
* Seizures
* Developmental disability
* Hearing and vision loss
* Distinctive facial features
* Early death
When symptoms develop
Symptoms typically develop at birth or during infancy.
How it's treated:
There is currently no known cure. Treatment focuses on managing symptoms and
preventing complications.
What do we test?
2 variants in the HSD17B4 gene.
* This test does not include the majority of HSD17B4 variants that cause DBPD
in any ethnicity.
* There are currently no professional guidelines in the U.S. for carrier
testing for this condition.
Relevant ethnicities:
* This test does not include the majority of HSD17B4 variants that cause DBPD
in any ethnicity.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY AND OUR TEST
DLD deficiency is a rare genetic disorder. It is typically characterized by low
muscle tone and episodes of brain injury accompanied by liver disease. A person
must have two variants in the DLD gene in order to have this condition.
Typical signs and symptoms
* Buildup of lactic acid in the body
* Episodes of brain injury
* Developmental disabilities
* Decreased muscle tone
* Liver disease
* Abdominal pain and vomiting
When symptoms develop
Symptoms can develop anytime from infancy to adulthood
How it's treated:
There is currently no known cure. Treatment focuses on maintaining a stable
metabolic state through diet. Blood tests can be used for routine monitoring and
to guide dietary recommendations.
What do we test?
1 variant in the DLD gene.
* There are currently no professional guidelines in the U.S. for carrier
testing for this condition.
Relevant ethnicities:
* This test is most relevant for people of Ashkenazi Jewish descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
FAMILIAL DYSAUTONOMIA AND OUR TEST
Familial dysautonomia is a rare genetic disorder that affects many different
parts of the body. It is characterized by severe dysfunction in different parts
of the nervous system involved in movement, the senses, and involuntary
(autonomic) functions. A person must have two variants in the ELP1 gene in order
to have this condition.
Typical signs and symptoms
* Episodes of involuntary nerve impairment
* Motor and sensory nerve impairment
* Poor growth
* Developmental delay
When symptoms develop
Symptoms are typically present at birth.
How it's treated:
There is currently no known cure. Treatment focuses on managing nerve
dysfunction by providing medications and supportive care.
What do we test?
1 variant in the ELP1 gene.
* Carrier testing for familial dysautonomia is recommended by the American
College of Medical Genetics (ACMG) for people of Ashkenazi Jewish descent
considering having children. This test includes one of two variants
recommended for testing by ACMG.
Relevant ethnicities:
* This test is most relevant for people of Ashkenazi Jewish descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
FAMILIAL HYPERINSULINISM (ABCC8-RELATED) AND OUR TEST
ABCC8-related familial hyperinsulinism is a rare genetic disorder. It is
characterized by very high levels of insulin production. This leads to episodes
of low blood sugar, which can cause low energy, seizures, and brain damage if
left untreated. People with ABCC8-related familial hyperinsulinism most often
have two variants in the ABCC8 gene.
Typical signs and symptoms
* High levels of insulin
* Low blood sugar
* Low energy
* Irritability
* Seizures
* Brain damage
When symptoms develop
Symptoms typically develop during infancy or in early childhood.
How it's treated:
There is currently no known cure. Treatment depends on the severity of the
condition. Some people can maintain healthy blood glucose levels through
medication or diet. Other people may require surgery to remove part of the
pancreas.
What do we test?
3 variants in the ABCC8 gene.
* Symptoms of familial hyperinsulinism may vary between people with the
condition even if they have the same genetic variants.
* There are currently no professional guidelines in the U.S. for carrier
testing for this condition. However, the American College of Obstetricians
and Gynecologists (ACOG) notes that testing for familial hyperinsulinism may
be considered for people of Ashkenazi Jewish descent who are considering
having children.
Relevant ethnicities:
* This test is most relevant for people of Ashkenazi Jewish descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
FAMILIAL MEDITERRANEAN FEVER AND OUR TEST
Familial Mediterranean fever (FMF) is a genetic disorder. It is characterized by
recurring short episodes of fever, as well as inflammation in the abdomen,
chest, and joints. In some cases, there may be abnormal protein buildup in the
kidneys. People with FMF most often have two variants in the MEFV gene.
Typical signs and symptoms
* Periodic episodes of fever
* Inflammation in the abdomen, chest, and joints
* Skin rash
* Abnormal protein buildup in the kidneys
When symptoms develop
FMF can develop anytime from early childhood to adulthood. For most people with
the condition, the first episode occurs before the age of 20.
How it's treated:
During a fever episode, anti-inflammatory drugs may be used to manage fever and
inflammation. In addition, medication can be prescribed by doctors to prevent
fever attacks and kidney damage, especially for people who have the M694V
variant.
What do we test?
7 variants in the MEFV gene.
* There are currently no professional guidelines in the U.S. for carrier
testing for this condition.
* Symptoms of FMF may vary between people with the condition even if they have
the same genetic variants.
* In some cases, people with only a single MEFV variant can experience symptoms
of FMF. In addition, some studies have identified individuals who meet
clinical criteria for FMF but do not have any MEFV variants.
Relevant ethnicities:
* This test is most relevant for people of Arab, Armenian, Sephardic Jewish,
and Turkish descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
FANCONI ANEMIA GROUP C AND OUR TEST
Fanconi anemia group C is a rare genetic disorder. It is characterized by a
decreased production of blood cells, birth defects, and an increased risk of
infections and cancer. A person must have two variants in the FANCC gene in
order to have this condition.
Typical signs and symptoms
* Skeletal and organ malformations at birth
* Increased risk of cancer
* Frequent infections
* Decreased blood cell production
* Very short height
* Areas of lighter or darker skin color
When symptoms develop
Symptoms can develop anytime from birth to adulthood.
How it's treated:
There is currently no known cure. Treatment focuses on increasing the number of
blood cells, managing disabilities, and screening for cancer. Stem cell
transplants may correct blood cell problems in some cases.
What do we test?
3 variants in the FANCC gene.
* Carrier testing for Fanconi anemia group C is recommended by the American
College of Medical Genetics (ACMG) for people of Ashkenazi Jewish descent
considering having children. This test includes the one variant recommended
for testing by ACMG.
Relevant ethnicities:
* This test is most relevant for people of Ashkenazi Jewish descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
GRACILE SYNDROME AND OUR TEST
GRACILE syndrome is a rare genetic disorder. It is characterized by impaired
growth before birth, iron buildup, liver damage, and death in infancy. A person
must have two variants in the BCS1L gene in order to have this condition.
Typical signs and symptoms
* Small size at birth
* Poor growth and weight gain
* Iron buildup in the liver
* Buildup of lactic acid in the body
* Kidney and liver problems
* Death in infancy
When symptoms develop
Symptoms typically develop before birth.
How it's treated:
There is currently no known cure. Treatment focuses on managing symptoms and
ultimately providing end-of-life supportive care.
What do we test?
1 variant in the BCS1L gene.
* There are currently no professional guidelines in the U.S. for carrier
testing for this condition.
Relevant ethnicities:
* This test is most relevant for people of Finnish descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
GAUCHER DISEASE TYPE 1 AND OUR TEST
Gaucher disease type 1 is a rare genetic disorder that can affect many organs.
It often leads to an enlarged liver and spleen, as well as bone abnormalities. A
person must have two variants in the GBA gene, or two copies of a variant, in
order to have Gaucher disease type 1.
Typical signs and symptoms
* Enlargement of the liver and spleen
* Bone weakness and pain
* Growth impairment
* Anemia and low platelet count
When symptoms develop
Symptoms can develop anytime from childhood to adulthood and can vary from mild
to severe. Some people may never develop symptoms.
How it's treated:
There is currently no known cure. Treatment varies depending on the severity of
symptoms, but often includes enzyme replacement therapy.
What do we test?
3 variants in the GBA gene.
* The severity of symptoms, and when they develop, can vary greatly in people
with Gaucher disease type 1. Some people may never develop symptoms.
* The 84GG and V394L variants can occasionally be found in people with the more
severe, type 2 or type 3 forms of Gaucher disease. People with two copies of
the N370S variant, or one copy of N370S and one copy of another variant,
typically have the less severe, type 1 form of the disease.
* Carrier testing for Gaucher disease type 1 is recommended by the American
College of Medical Genetics (ACMG) for people of Ashkenazi Jewish descent
considering having children. This test includes two of four variants
recommended for testing by ACMG.
Relevant ethnicities:
* This test is most relevant for people of Ashkenazi Jewish descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
GLYCOGEN STORAGE DISEASE TYPE IA AND OUR TEST
GSDIa is a rare genetic disorder. It is characterized by low blood sugar, liver
and kidney problems, and poor growth. A person must have two variants in the
G6PC gene in order to have this condition.
Typical signs and symptoms
* Low blood sugar
* Liver enlargement
* Very short height
* Kidney and liver problems
* Anemia
When symptoms develop
Symptoms typically develop during infancy.
How it's treated:
There is currently no known cure. Treatment focuses on managing diet to control
blood sugar levels and prevent problems with metabolism.
What do we test?
1 variant in the G6PC gene.
* There are currently no professional guidelines in the U.S. for carrier
testing for this condition. However, the American College of Obstetricians
and Gynecologists (ACOG) notes that testing for glycogen storage disease type
I may be considered for people of Ashkenazi Jewish descent who are
considering having children.
Relevant ethnicities:
* This test is most relevant for people of Ashkenazi Jewish descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
GLYCOGEN STORAGE DISEASE TYPE IB AND OUR TEST
GSDIb is a rare genetic disorder. It is characterized by low blood sugar, liver
and kidney problems, and frequent infections. A person must have two variants in
the SLC37A4 gene in order to have this condition.
Typical signs and symptoms
* Low blood sugar
* Liver enlargement
* Kidney and liver problems
* Frequent infections
* Very short height
When symptoms develop
Symptoms typically develop during infancy.
How it's treated:
There is currently no known cure. Treatment focuses on managing diet in order to
control blood sugar levels and prevent problems with metabolism. Medication can
help prevent infections.
What do we test?
2 variants in the SLC37A4 gene.
* This test does not include the majority of SLC37A4 variants that cause GSDIb
in any ethnicity.
* There are currently no professional guidelines in the U.S. for carrier
testing for this condition.
Relevant ethnicities:
* This test does not include the majority of SLC37A4 variants that cause GSDIb
in any ethnicity.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
HEREDITARY FRUCTOSE INTOLERANCE AND OUR TEST
Hereditary fructose intolerance is a rare genetic disorder. It is characterized
by low blood sugar levels, stomach pain, and vomiting after eating fructose. A
person must have two variants in the ALDOB gene in order to have this condition.
Typical signs and symptoms
* Nausea and vomiting
* Low blood sugar
* Stomach pain
* Failure to gain weight
* Liver disease
* Kidney disease
When symptoms develop
Symptoms typically develop during infancy.
How it's treated:
There is currently no known cure. Maintaining a fructose-free diet may reduce or
prevent symptoms.
What do we test?
4 variants in the ALDOB gene.
* There are currently no professional guidelines in the U.S. for carrier
testing for this condition.
Relevant ethnicities:
* This test is most relevant for people of European descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
HERLITZ JUNCTIONAL EPIDERMOLYSIS BULLOSA (LAMB3-RELATED) AND OUR TEST
LAMB3-related JEB is a rare genetic disorder. The Herlitz form is characterized
by severe blistering of the skin and mucous membranes and, typically, death in
infancy. A person must have two variants in the LAMB3 gene in order to have this
condition.
Typical signs and symptoms
* Fragile skin and mucous membranes
* Severe blistering
* Recurrent infections
* Difficulty swallowing, speaking, and breathing
When symptoms develop
Symptoms of Herlitz JEB are typically present at birth.
How it's treated:
There is currently no known cure. Treatment focuses on protecting the skin,
wound care, and managing infections and other complications.
What do we test?
3 variants in the LAMB3 gene.
* This test does not include the majority of LAMB3 variants that cause
LAMB3-related JEB in any ethnicity.
* There are currently no professional guidelines in the U.S. for carrier
testing for this condition.
Relevant ethnicities:
* This test does not include the majority of LAMB3 variants that cause
LAMB3-related JEB in any ethnicity.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
LEIGH SYNDROME, FRENCH CANADIAN TYPE AND OUR TEST
LSFC is a rare genetic disorder. It is characterized by life-threatening periods
of lactic acid buildup and brain injury as well as failure to gain weight. A
person must have two variants in the LRPPRC gene in order to have this
condition.
Typical signs and symptoms
* Buildup of lactic acid in the body
* Episodes of brain injury
* Failure to gain weight
* Poor muscle control and muscle spasms
* Distinctive facial features
* Early death
When symptoms develop
Symptoms typically develop during infancy.
How it's treated:
There is currently no known cure. Treatment focuses on providing nutritional
support, managing symptoms, and preventing complications.
What do we test?
1 variant in the LRPPRC gene.
* There are currently no professional guidelines in the U.S. for carrier
testing for this condition.
Relevant ethnicities:
* This test is most relevant for people of French Canadian descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2D AND OUR TEST
LGMD2D is a rare genetic disorder. It is characterized by muscle weakness that
worsens over time as well as heart and lung problems. A person must have two
variants in the SGCA gene in order to have this condition.
Typical signs and symptoms
* Wasting of arm and leg muscles closest to the torso
* Large calf muscles
* Curvature of the spine
* Heart and lung problems
* Shortened lifespan
When symptoms develop
Symptoms typically develop between early childhood and adolescence.
How it's treated:
There is currently no known cure. Therapy focuses on maintaining muscle
function, preventing skeletal problems, and monitoring heart and lung function.
What do we test?
1 variant in the SGCA gene.
* Symptoms can vary greatly in people with this condition, and can be mild in
some cases.
* There are currently no professional guidelines in the U.S. for carrier
testing for this condition.
Relevant ethnicities:
* This test is expected to identify the majority of carriers of Finnish
descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2E AND OUR TEST
LGMD2E is a rare genetic disorder. It is characterized by muscle weakness that
worsens over time as well as heart and lung problems. A person must have two
variants in the SGCB gene in order to have this condition.
Typical signs and symptoms
* Wasting of arm and leg muscles closest to the torso
* Large calf muscles
* Curvature of the spine
* Heart and lung problems
* Shortened lifespan
When symptoms develop
Symptoms typically develop between early childhood and adolescence.
How it's treated:
There is currently no known cure. Therapy focuses on maintaining muscle
function, preventing skeletal problems, and monitoring heart and lung function.
What do we test?
1 variant in the SGCB gene.
* Symptoms can vary greatly in people with this condition, and can be mild in
some cases.
* There are currently no professional guidelines in the U.S. for carrier
testing for this condition.
Relevant ethnicities:
* This test is most relevant for people of Southern Indiana Amish descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2I AND OUR TEST
LGMD2I is a rare genetic disorder. It is characterized by muscle weakness that
worsens over time as well as heart and lung problems. A person must have two
variants in the FKRP gene in order to have this condition.
Typical signs and symptoms
* Wasting of arm and leg muscles closest to the torso
* Heart and lung problems
* Large calf muscles
* Curvature of the spine
* Shortened lifespan
When symptoms develop
Symptoms typically develop between early childhood and early adulthood.
How it's treated:
There is currently no known cure. Therapy focuses on maintaining muscle
function, preventing skeletal problems, and monitoring heart and lung function.
What do we test?
1 variant in the FKRP gene.
* Symptoms can vary greatly in people with this condition, and can be mild in
some cases.
* There are currently no professional guidelines in the U.S. for carrier
testing for this condition.
Relevant ethnicities:
* This test is expected to identify the majority of carriers of European
descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
MCAD DEFICIENCY AND OUR TEST
MCAD deficiency is a rare genetic disorder characterized by episodes of very low
blood sugar while fasting or under stress. A person must have two variants in
the ACADM gene in order to have this condition.
Typical signs and symptoms
* Severely low blood sugar
* Fatigue
* Vomiting
* Seizures
* Liver problems
When symptoms develop
Symptoms typically develop during infancy or early childhood.
How it's treated:
There is currently no known cure. Early diagnosis, avoiding fasting, and making
certain diet modifications can help limit symptoms and prevent complications.
What do we test?
4 variants in the ACADM gene.
* There are currently no professional guidelines in the U.S. for carrier
testing for this condition.
Relevant ethnicities:
* This test is most relevant for people of European descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
MAPLE SYRUP URINE DISEASE TYPE 1B AND OUR TEST
MSUD 1B is a rare genetic disorder. It is characterized by poor growth and
feeding, slowed mental and physical processes, and urine with a distinct, sweet
odor. A person must have two variants in the BCKDHB gene in order to have this
condition.
Typical signs and symptoms
* Sweet-smelling urine
* Poor feeding and growth
* Lethargy
* Developmental delay
* Coma and death if untreated
When symptoms develop
Symptoms typically develop during infancy or in early childhood.
How it's treated:
There is currently no known cure. Strict diet management, and in some cases
liver transplantation, may reduce symptoms and slow or stop disease progression.
What do we test?
2 variants in the BCKDHB gene.
* There are currently no professional guidelines in the U.S. for carrier
testing for this condition. However, the American College of Obstetricians
and Gynecologists (ACOG) notes that testing for maple syrup urine disease may
be considered for people of Ashkenazi Jewish descent who are considering
having children.
Relevant ethnicities:
* This test is most relevant for people of Ashkenazi Jewish descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
MUCOLIPIDOSIS TYPE IV AND OUR TEST
Mucolipidosis IV is a rare genetic disorder characterized by developmental delay
and gradual vision loss in childhood. A person must have two variants in the
MCOLN1 gene in order to have this condition.
Typical signs and symptoms
* Developmental disability
* Vision impairment that worsens over time
* Decreased muscle tone
When symptoms develop
Symptoms typically develop during infancy.
How it's treated:
There is currently no known cure. Treatment focuses on managing symptoms and
providing supportive care through speech, physical, and occupational therapy.
What do we test?
1 variant in the MCOLN1 gene.
* Carrier testing for mucolipidosis IV is recommended by the American College
of Medical Genetics (ACMG) for people of Ashkenazi Jewish descent considering
having children. This test includes one of two variants recommended for
testing by ACMG and does not include the second most common variant found in
people of Ashkenazi Jewish descent.
Relevant ethnicities:
* This test is most relevant for people of Ashkenazi Jewish descent.
* This test does not include the second most common variant found in people of
Ashkenazi Jewish descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
NEURONAL CEROID LIPOFUSCINOSIS (CLN5-RELATED) AND OUR TEST
CLN5-related NCL is a rare genetic disorder. It is characterized by seizures,
vision loss, and intellectual disability. A person must have two variants in the
CLN5 gene in order to have this form of NCL.
Typical signs and symptoms
* Intellectual decline
* Seizures
* Loss of ability to control muscles
* Muscle spasms
* Vision loss leading to blindness
* Shortened lifespan
When symptoms develop
Symptoms typically develop in early childhood.
How it's treated:
There is currently no known cure. Treatment focuses on managing symptoms,
providing physical therapy, and using seizure medications as needed.
What do we test?
1 variant in the CLN5 gene.
* There are currently no professional guidelines in the U.S. for carrier
testing for this condition.
Relevant ethnicities:
* This test is most relevant for people of Finnish descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
NEURONAL CEROID LIPOFUSCINOSIS (PPT1-RELATED) AND OUR TEST
PPT1-related NCL is a rare genetic disorder. It is characterized by seizures,
vision loss, and intellectual disability. A person must have two variants in the
PPT1 gene in order to have this form of NCL.
Typical signs and symptoms
* Intellectual decline
* Seizures
* Loss of ability to control muscles
* Muscle spasms
* Vision loss leading to blindness
* Death in childhood
When symptoms develop
Symptoms typically develop during infancy or in early childhood.
How it's treated:
There is currently no known cure. Treatment focuses on managing symptoms,
providing physical therapy, and using seizure medications as needed.
What do we test?
3 variants in the PPT1 gene.
* There are currently no professional guidelines in the U.S. for carrier
testing for this condition.
Relevant ethnicities:
* This test is most relevant for people of Finnish descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
NIEMANN-PICK DISEASE TYPE A AND OUR TEST
Niemann-Pick disease type A is a rare genetic disorder. It is characterized by
an enlarged liver and spleen, developmental disability, recurring lung
infections, and early death. A person must have two variants in the SMPD1 gene
in order to have this condition.
Typical signs and symptoms
* Enlarged liver and spleen
* Severe developmental disability
* Recurring lung infections
* Poor weight gain
* Death in early childhood
When symptoms develop
Symptoms typically develop during infancy.
How it's treated:
There is currently no known cure. Treatment focuses on managing symptoms and
preventing complications through physical and occupational therapy.
What do we test?
3 variants in the SMPD1 gene.
* Carrier testing for Niemann-Pick disease type A is recommended by the
American College of Medical Genetics (ACMG) for people of Ashkenazi Jewish
descent considering having children. This test includes the three variants
recommended for testing by ACMG.
Relevant ethnicities:
* This test is most relevant for people of Ashkenazi Jewish descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
NIJMEGEN BREAKAGE SYNDROME AND OUR TEST
Nijmegen breakage syndrome is a rare genetic disorder. It is characterized by
developmental delay, recurring infections, and an increased risk of cancer. A
person must have two variants in the NBN gene in order to have this condition.
Typical signs and symptoms
* Small head size
* Developmental delay
* Recurring infections
* Increased risk for cancer
When symptoms develop
Symptoms typically develop before birth.
How it's treated:
There is currently no known cure. Treatment focuses on managing symptoms and
preventing complications such as infection and cancer.
What do we test?
1 variant in the NBN gene.
* There are currently no professional guidelines in the U.S. for carrier
testing for this condition.
Relevant ethnicities:
* This test is expected to identify the majority of carriers in people of
Eastern European descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
NONSYNDROMIC HEARING LOSS AND DEAFNESS, DFNB1 (GJB2-RELATED) AND OUR TEST
DFNB1 is an inherited condition characterized by mild to severe hearing loss
that is present from birth. People with GJB2-related DFNB1 most often have two
variants in the GJB2 gene.
Typical signs and symptoms
* Mild to profound hearing loss at birth
When symptoms develop
Symptoms are typically present at birth.
How it's treated:
There is currently no known cure. Treatment options include hearing aids,
cochlear implants, and educational programs for people with hearing loss.
What do we test?
2 variants in the GJB2 gene.
* The severity of hearing loss can vary, but there are no other symptoms
associated with this condition.
* Most people with DFNB1 have two variants in the GJB2 gene. However, some
people with the condition have one variant in the GJB2 gene and a second
variant not tested (a deletion) in the GJB6 gene.
* There are currently no professional guidelines in the U.S. for carrier
testing for this condition.
Relevant ethnicities:
* This test is most relevant for people of Ashkenazi Jewish and European
descent.
* This test does not include the majority of GJB2 variants that cause DFNB1 in
people of East Asian descent and does not include many of the GJB2 variants
that cause DFNB1 in people of South Asian descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
PENDRED SYNDROME AND DFNB4 HEARING LOSS (SLC26A4-RELATED) AND OUR TEST
Pendred syndrome and DFNB4 are inherited conditions characterized by deafness
and structural problems with the inner ear. Pendred syndrome is sometimes
characterized by an enlarged thyroid. People with Pendred syndrome or DFNB4 most
often have two variants in the SLC26A4 gene.
Typical signs and symptoms
* Hearing loss at birth or in early childhood
* Abnormal inner ear development
* Enlarged thyroid
* Poor balance
When symptoms develop
Symptoms typically develop at birth or during childhood.
How it's treated:
There is currently no known cure. Early intervention is recommended to teach
alternative communication skills. Hearing aids or cochlear implants may treat
hearing loss. Medication can treat low thyroid hormone levels.
What do we test?
6 variants in the SLC26A4 gene.
* Symptoms of Pendred syndrome and DFNB4 vary in severity depending on which
variants are causing the condition.
* This test does not include a large fraction of SLC26A4 variants that cause
Pendred syndrome or DFNB4 in any ethnicity.
* There are currently no professional guidelines in the U.S. for carrier
testing for these conditions.
Relevant ethnicities:
* This test does not include a large fraction of SLC26A4 variants that cause
Pendred syndrome or DFNB4 in any ethnicity.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
PHENYLKETONURIA AND RELATED DISORDERS AND OUR TEST
PKU is part of a spectrum of related genetic disorders. These disorders are
characterized by intellectual disability, seizures, and skin problems. A person
must have two variants in the PAH gene in order to have one of these disorders.
Typical signs and symptoms
* Intellectual disability
* Seizures
* Behavioral problems
* Eczema
When symptoms develop
Symptoms typically develop soon after birth.
How it's treated:
There is currently no known cure. Diet management throughout life may help
reduce common PKU symptoms. For some people, use of medication can prevent
phenylalanine levels from becoming too high.
What do we test?
23 variants in the PAH gene.
* PKU and related disorders can be managed with appropriate treatment.
* Symptoms of these disorders vary in severity depending on which variants are
causing the condition.
* There are currently no professional guidelines in the U.S. for carrier
testing for these conditions.
Relevant ethnicities:
* This test is most relevant for people of Northern European descent,
particularly those of Irish ancestry.
* This test does not include a large fraction of PAH variants that cause PKU
and related disorders in people of other ethnicities.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
PRIMARY HYPEROXALURIA TYPE 2 AND OUR TEST
PH2 is a rare genetic disorder. It is characterized by frequent kidney stones
that can lead to kidney failure if left untreated. A person must have two
variants in the GRHPR gene in order to have this condition.
Typical signs and symptoms
* Frequent kidney stones
* Kidney failure if untreated
When symptoms develop
Symptoms typically develop during childhood.
How it's treated:
There is currently no known cure. Treatment focuses on managing oxalate levels
and hydration in order to slow the development of kidney disease. Kidney
transplantation is considered in some cases.
What do we test?
1 variant in the GRHPR gene.
* This test does not include a large fraction of GRHPR variants that cause PH2.
* There are currently no professional guidelines in the U.S. for carrier
testing for this condition.
Relevant ethnicities:
* This test is expected to identify the majority of carriers in people of
European descent.
* This test does not include the most common variant found in people of Asian
descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
PYRUVATE KINASE DEFICIENCY AND OUR TEST
Pyruvate kinase (PK) deficiency is a rare genetic disorder in which red blood
cells break down too quickly, leading to chronic anemia. A person must have two
variants in the PKLR gene, or two copies of a variant, in order to have this
condition.
Typical signs and symptoms
* Chronic anemia
* Extreme fatigue and difficulty exercising
* Jaundice (yellowing of the skin and eyes)
* Cognitive difficulties such as difficulty concentrating
* Enlarged spleen
* Iron overload
* Gallstones
When symptoms develop
Symptoms can develop anytime from before birth to adulthood and can vary from
mild to severe. Symptoms may worsen with age.
How it's treated:
There is currently no known cure. Treatment depends on the severity of the
symptoms and may include blood transfusions, medications to remove excess iron
from the blood, and removal of the spleen and gallbladder. In newborns,
phototherapy (light therapy) is often used to treat jaundice. Medications that
increase the activity of the PK enzyme in red blood cells are also in
development, as a way to treat the underlying cause of the condition.
What do we test?
1 variant in the PKLR gene.
* Symptoms of PK deficiency may vary widely among people with the condition.
* This test does not include the majority of PKLR variants that cause PK
deficiency in any ethnicity.
* There are currently no professional guidelines in the U.S. for carrier
testing for this condition.
Relevant ethnicities:
* This test does not include the majority of PKLR variants that cause PK
deficiency in any ethnicity.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 1 AND OUR TEST
RCDP1 is a rare genetic disorder. It is characterized by bone abnormalities,
cataracts, and intellectual disability. A person must have two variants in the
PEX7 gene in order to have this condition.
Typical signs and symptoms
* Skeletal problems
* Childhood cataracts
* Intellectual disability
* Frequent lung infections
When symptoms develop
Symptoms are typically present at birth or develop during infancy.
How it's treated:
There is currently no known cure. Treatment focuses on managing symptoms and
providing supportive care through physical therapy. Treatment may include
cataract removal.
What do we test?
1 variant in the PEX7 gene.
* This test does not include a large fraction of PEX7 variants that cause RCDP1
in any ethnicity.
* There are currently no professional guidelines in the U.S. for carrier
testing for this condition.
Relevant ethnicities:
* This test does not include a large fraction of PEX7 variants that cause RCDP1
in any ethnicity.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
SALLA DISEASE AND OUR TEST
Salla disease is a rare genetic disorder. It is characterized by a gradual loss
of muscle tone and coordination, as well as impaired growth, intellectual
disability, and seizures. A person must have two variants in the SLC17A5 gene in
order to have this condition.
Typical signs and symptoms
* Intellectual disability
* Loss of muscle tone and coordination over time
* Seizures
When symptoms develop
Symptoms typically develop during infancy or childhood.
How it's treated:
There is currently no known cure. Treatment focuses on managing seizures and
providing supportive care through speech, physical, and occupational therapy.
What do we test?
1 variant in the SLC17A5 gene.
* There are currently no professional guidelines in the U.S. for carrier
testing for this condition.
Relevant ethnicities:
* This test is most relevant for people of Finnish and Swedish descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
SICKLE CELL ANEMIA AND OUR TEST
Sickle cell anemia is a genetic disorder characterized by anemia, episodes of
pain, and frequent infections. A person must have two HbS variants in the HBB
gene in order to have this condition.
Typical signs and symptoms
* Anemia
* Fatigue
* Episodes of pain
* Frequent infections
* Stroke
* Injury to multiple organs
When symptoms develop
Symptoms typically develop by early childhood.
How it's treated:
Treatment focuses on managing pain and preventing complications. Certain
medications or blood transfusions may improve symptoms.
What do we test?
1 variant in the HBB gene.
* Carrier screening for hemoglobinopathies such as sickle cell anemia is
recommended by the American Congress of Obstetricians and Gynecologists
(ACOG) via complete blood count and hemoglobin electrophoresis for people of
African, Southeast Asian, Mediterranean, Middle Eastern, and West Indian
descent considering having children.
Relevant ethnicities:
* This test is most relevant for people of African descent, because the HbS
variant is most common in people with African ancestry.
* In addition, because this test covers the only variant that causes sickle
cell anemia, it is also relevant for other ethnicities in which the HbS
variant is found, including people of Middle Eastern and South Asian descent,
as well as people from the Caribbean, the Mediterranean, and parts of Central
and South America.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
SJÖGREN-LARSSON SYNDROME AND OUR TEST
Sjögren-Larsson syndrome is a rare genetic disorder. It is characterized by
scaly dry skin, intellectual disability, and persistent muscle stiffness. A
person must have two variants in the ALDH3A2 gene in order to have this
condition.
Typical signs and symptoms
* Dry scaly skin
* Persistent muscle stiffness
* Intellectual disability
When symptoms develop
Symptoms typically develop in infancy or early childhood.
How it's treated:
There is currently no known cure. Treatment focuses on managing symptoms and
providing supportive care through speech and physical therapy as well as skin
care.
What do we test?
1 variant in the ALDH3A2 gene.
* There are currently no professional guidelines in the U.S. for carrier
testing for this condition.
Relevant ethnicities:
* This test is most relevant for people of Swedish descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
TAY-SACHS DISEASE AND OUR TEST
Tay-Sachs disease is a rare genetic disorder. It is characterized by a loss of
strength and coordination over time as well as developmental disability,
seizures, and early death. A person must have two variants in the HEXA gene in
order to have this condition.
Typical signs and symptoms
* Loss of strength and coordination that worsens over time
* Severe developmental disability
* Vision loss
* Seizures
* Death in early childhood in severe cases
When symptoms develop
Symptoms typically develop during infancy.
How it's treated:
There is currently no known cure. Treatment focuses on managing symptoms,
providing nutritional support, and using seizure medications as needed.
What do we test?
4 variants in the HEXA gene.
* Symptoms of this disorder vary in severity depending on which variants are
causing the condition.
* Carrier testing for Tay-Sachs disease is recommended by the American College
of Medical Genetics and Genomics (ACMG) and the American College of
Obstetricians and Gynecologists (ACOG) for people of Ashkenazi Jewish descent
considering having children. This test includes the three variants
recommended for testing by ACMG. In addition, ACOG recommends offering
carrier testing for Tay-Sachs disease to individuals of Cajun and French
Canadian descent who are considering having children.
* When carrier testing for Tay-Sachs disease is indicated in people who are not
of Ashkenazi Jewish descent, ACMG recommends biochemical carrier screening as
a first step. Genetic testing can then be used to confirm carrier status in
people with a positive result.
Relevant ethnicities:
* This test is most relevant for people of Ashkenazi Jewish and Cajun descent.
* This test does not include the most common variant found in people of French
Canadian descent with Tay-Sachs disease.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
TYROSINEMIA TYPE I AND OUR TEST
Tyrosinemia type I is a rare genetic disorder. It is characterized by high
levels of the amino acid tyrosine that can lead to liver and kidney disease. A
person must have two variants in the FAH gene in order to have tyrosinemia type
I.
Typical signs and symptoms
* High levels of tyrosine in the blood
* Liver and kidney problems
* Growth delay
* Episodes of pain, weakness, and mental distress
* Increased risk of liver cancer
When symptoms develop
Symptoms typically develop during infancy or in childhood.
How it's treated:
There is currently no known cure. Medication and a low protein diet may decrease
liver and kidney damage. Liver transplantation is considered in some cases.
What do we test?
4 variants in the FAH gene.
* There are currently no professional guidelines in the U.S. for carrier
testing for this condition.
Relevant ethnicities:
* This test is most relevant for people of French Canadian and Finnish descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
USHER SYNDROME TYPE 1F AND OUR TEST
Usher 1F is a rare genetic disorder. It is characterized by deafness at birth,
poor balance, and vision loss that worsens over time. A person must have two
variants in the PCDH15 gene in order to have this condition.
Typical signs and symptoms
* Deafness in both ears at birth
* Loss of vision beginning in childhood
* Poor balance
* Delays in walking
When symptoms develop
Symptoms typically develop at birth.
How it's treated:
There is currently no known cure. Deafness may be treated with cochlear
implants. Vision loss may be monitored with routine eye exams. Early
intervention is recommended to teach alternative communication skills.
What do we test?
1 variant in the PCDH15 gene.
* There are currently no professional guidelines in the U.S. for carrier
testing for this condition. However, the American College of Obstetricians
and Gynecologists (ACOG) notes that testing for Usher syndrome may be
considered for people of Ashkenazi Jewish descent who are considering having
children.
Relevant ethnicities:
* This test is most relevant for people of Ashkenazi Jewish descent.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
USHER SYNDROME TYPE 3A AND OUR TEST
Usher 3A is a rare genetic disorder. It is characterized by hearing and vision
loss that begins in late childhood and worsens over time. A person must have two
variants in the CLRN1 gene in order to have this condition.
Typical signs and symptoms
* Hearing loss in childhood or early teens
* Gradual vision loss
* Night blindness by mid-teens
* Blindness by mid-adulthood
When symptoms develop
Symptoms typically develop during late childhood or adolescence.
How it's treated:
There is currently no known cure. Hearing loss may be treated with hearing aids.
Vision loss may be monitored with routine eye exams. Early intervention is
recommended to teach alternative communication skills.
What do we test?
1 variant in the CLRN1 gene.
* There are currently no professional guidelines in the U.S. for carrier
testing for this condition. However, the American College of Obstetricians
and Gynecologists (ACOG) notes that testing for Usher syndrome may be
considered for people of Ashkenazi Jewish descent who are considering having
children.
Relevant ethnicities:
* This test is most relevant for people of Ashkenazi Jewish descent.
* This test does not include variants commonly found in people of Finnish
descent with Usher 3A.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
WHAT TO KNOW ABOUT:
ZELLWEGER SYNDROME SPECTRUM (PEX1-RELATED) AND OUR TEST
ZSS is a group of rare genetic disorders. The form of ZSS covered by this report
is characterized by impaired hearing, vision, and organ function, as well as
developmental disability and early death. A person must have two variants in the
PEX1 gene in order to have this form of ZSS.
Typical signs and symptoms
* Decreased muscle tone
* Seizures
* Failure to gain weight
* Impaired vision and hearing
* Developmental disability
* Early death (severe form)
When symptoms develop
Symptoms are typically present at birth or develop during infancy.
How it's treated:
There is currently no known cure. Treatment focuses on managing symptoms and
preventing complications.
What do we test?
1 variant in the PEX1 gene.
* This test does not include the majority of PEX1 variants that cause ZSS in
any ethnicity.
* There are currently no professional guidelines in the U.S. for carrier
testing for this condition.
Relevant ethnicities:
* This test does not include the majority of PEX1 variants that cause ZSS in
any ethnicity.
Test performance summary
Accuracy was determined by comparing results from this test with results from
sequencing. Greater than 99% of test results were correct. While unlikely, this
test may provide false positive or false negative results. For more details on
the analytical performance of this test, refer to the package insert.
--------------------------------------------------------------------------------
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View sample report here
View package insert here
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The Amish are a group of people residing mainly in the central regions of the
United States. Descended from Swiss and German ancestors, the group is defined
by religious and cultural practices, including strong church membership and
limits on the use of technology.
Your DNA can tell you about your family history. Reports include: Ancestry
Composition, Maternal & Paternal Haplogroups, Neanderthal Ancestry
Those who trace their roots to Jewish settlers in Central and Eastern Europe
during the Middle Ages.
North African Berbers are people of mixed Arab and Berber origin. They live in
communities across the North African Maghreb region, which includes the
countries of Tunisia, Morocco, Algeria, and Libya.
Test Examples Relevant Ethnicities Bloom Syndrome Ashkenazi Jewish Sickle Cell
Anemia African Tay-Sachs Disease Ashkenazi Jewish, Cajun
If you are starting a family, find out if you are a carrier for an inherited
condition. Example reports include: Cystic Fibrosis, Sickle Cell Anemia,
Hereditary Hearing Loss
Find and connect with relatives in the 23andMe database who share DNA with you.
Learn how your genetics can influence your risk for certain diseases. Example
reports include: Celiac Disease, Late-Onset Alzheimer's Disease, Parkinson's
Disease
Learn the origins of your maternal and paternal ancestors and where they lived
thousands of years ago.
Women can only trace their paternal haplogroup by connecting to a male relative
- such as a father, brother, or paternal male cousin. This is because the
paternal haplogroup is traced through the Y chromosome, which women do not
inherit.
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People with Sephardic (or Sephardi) Jewish ancestry can trace their roots back
to Jews who settled in Spain and Portugal.
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