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 disease  

Parkinson 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   

Sjögren-Larsson syndrome 

Tay-Sachs disease

Tyrosinemia              

Usher syndrome     

Zellweger spectrum disorder, also called Zellweger syndrome spectrum

Pharmacogenetics

CYP2C19 drug metabolism