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

Learn more from Genetics Home Reference about the health conditions and traits 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

Age-related macular degeneration

Alpha-1 antitrypsin deficiency

Celiac disease

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

Hereditary hemochromatosis

Hereditary thrombophilia: prothrombin thrombophilia and factor V Leiden thrombophilia

Alzheimer disease

Parkinson disease


Lactose intolerance


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

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


Primary hyperoxaluria

Rhizomelic chondrodysplasia punctata

Sialic acid storage disease, including Salla disease

Sickle cell disease, also called sickle cell anemia

Sjögren-Larsson syndrome 

Tay-Sachs disease


Usher syndrome

Zellweger spectrum disorder, also called Zellweger syndrome spectrum