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

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

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

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

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

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

Topics in the Direct-to-Consumer Genetic Testing chapter

• What is direct-to-consumer genetic testing?
• What kinds of direct-to-consumer genetic tests are available?
• What is genetic ancestry testing?
• What are the benefits and risks of direct-to-consumer genetic testing?
• How do I choose a direct-to-consumer genetic testing company?
• How is direct-to-consumer genetic testing done?
• How much does direct-to-consumer genetic testing cost, and is it covered by health insurance?
• What do the results of direct-to-consumer genetic testing mean?
• What can raw data from a direct-to-consumer genetic test tell me?
• Can a direct-to-consumer genetic test tell me whether I will develop cancer?
• Can a direct-to-consumer genetic test tell me whether I will develop Alzheimer disease?
• What does it mean to have Neanderthal or Denisovan DNA?
• How do direct-to-consumer genetic testing companies protect their customers’ privacy?
• Can the results of direct-to-consumer genetic testing affect my ability to get insurance?
• Where can I read more about the diseases and traits covered in my direct-to-consumer genetic testing report?