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URL of this page: /genetics/understanding/dtcgenetictesting/dtcghrpages/

Where can I read more about the diseases and traits covered in my direct-to-consumer genetic testing report?

Learn more from MedlinePlus Genetics about some of the health conditions and traits that may be included in your report. Each plain-language summary provides information about the condition’s major features, frequency, causes, and inheritance. You will also find links to other reputable sources of online health information.

Health conditions

BRCA1- or BRCA2-related breast cancer and ovarian cancer ?

Familial adenomatous polyposis, including?MUTYH-associated polyposis

Age-related macular degeneration ?

Alpha-1 antitrypsin deficiency

Celiac disease? ? ? ? ? ?

Familial hypercholesterolemia

Glucose-6-phosphate dehydrogenase deficiency, also called?G6PD?deficiency

Hereditary hemochromatosis

Transthyretin amyloidosis

Hereditary thrombophilia: prothrombin thrombophilia and factor V Leiden thrombophilia? ? ?

Alzheimer's disease ?

Parkinson's disease

Wellness

Lactose intolerance

Traits

Cheek dimples

Eye color ?

Hair texture

Hair color?(light or dark hair)

Carrier status

Autosomal recessive spastic ataxia of Charlevoix-Saguenay, also called ARSACS

Andermann syndrome, also called agenesis of the corpus callosum with peripheral neuropathy

Polycystic kidney disease

Beta thalassemia? ? ?

Bloom syndrome? ??

Canavan disease

PMM2-congenital disorder of glycosylation, also called PMM2-CDG

Cystic fibrosis? ? ? ? ? ??

D-bifunctional protein deficiency

Dihydrolipoamide dehydrogenase deficiency? ? ? ? ? ? ?

Familial dysautonomia? ? ? ? ??

Congenital hyperinsulinism, also called familial hyperinsulinism

Familial Mediterranean fever

Fanconi anemia? ? ? ?

GRACILE syndrome

Gaucher disease

Glycogen storage disease type I? ? ? ??

Hereditary fructose intolerance?? ? ? ?

Junctional epidermolysis bullosa

Leigh syndrome? ? ? ?

Limb-girdle muscular dystrophy? ? ? ?

Medium-chain acyl-CoA dehydrogenase deficiency, also called MCAD deficiency

Maple syrup urine disease ?

Mucolipidosis type IV? ? ? ? ? ??

CLN5 disease, also called neuronal ceroid lipofuscinosis (CLN5-related)

CLN1 disease, also called neuronal ceroid lipofuscinosis (PPT1-related) ? ?

Niemann-Pick disease? ? ? ? ? ?

Nijmegen breakage syndrome

Nonsyndromic hearing loss?

Pendred syndrome

Phenylketonuria

Primary hyperoxaluria? ? ? ??

Pyruvate kinase deficiency?

Rhizomelic chondrodysplasia punctata

Sialic acid storage disease, including Salla disease

Sickle cell disease, also called sickle cell anemia ??

Sj?gren-Larsson syndrome?

Tay-Sachs disease

Tyrosinemia? ? ? ? ? ? ??

Usher syndrome? ? ?

Zellweger spectrum disorder, also called Zellweger syndrome spectrum

Pharmacogenetics

CYP2C19 drug metabolism

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