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
Glucose-6-phosphate dehydrogenase deficiency, also called G6PD deficiency
Hereditary thrombophilia: prothrombin thrombophilia and factor V Leiden thrombophilia
Wellness
Traits
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
PMM2-congenital disorder of glycosylation, also called PMM2-CDG
D-bifunctional protein deficiency
Dihydrolipoamide dehydrogenase deficiency
Congenital hyperinsulinism, also called familial hyperinsulinism
Glycogen storage disease type I
Hereditary fructose intolerance
Junctional epidermolysis bullosa
Limb-girdle muscular dystrophy
Medium-chain acyl-CoA dehydrogenase deficiency, also called MCAD deficiency
CLN5 disease, also called neuronal ceroid lipofuscinosis (CLN5-related)
CLN1 disease, also called neuronal ceroid lipofuscinosis (PPT1-related)
Rhizomelic chondrodysplasia punctata
Sialic acid storage disease, including Salla disease
Sickle cell disease, also called sickle cell anemia
Zellweger spectrum disorder, also called Zellweger syndrome spectrum
Pharmacogenetics
CYP2C19 drug metabolism
The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.