Health Library

Explore our comprehensive collection of genetic health information, sourced from GeneReviews and other authoritative medical sources.

Common Genetic Conditions

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Lung Disorders Treatable

Cystic Fibrosis

Gene: CFTR

A life-threatening genetic disorder that affects the lungs and digestive system. Caused by mutations in the CFTR gene, it results in thick, sticky mucus that …

Cancer Risk Treatable

Hereditary Breast and Ovarian Cancer (BRCA1/2)

Genes: BRCA1, BRCA2

An inherited cancer syndrome that significantly increases the risk of breast and ovarian cancers. BRCA1 carriers have up to 72% lifetime breast cancer risk.

Cancer Risk Treatable

Lynch Syndrome

Genes: MLH1, MSH2, MSH6, PMS2, EPCAM

Hereditary colorectal cancer syndrome that increases risk of colorectal, endometrial, and other cancers. Lifetime colorectal cancer risk up to 80%.

Cardiovascular Treatable

Familial Hypercholesterolemia

Genes: LDLR, APOB, PCSK9

Inherited high cholesterol that leads to early heart disease if untreated. LDL cholesterol is significantly elevated from birth.

Blood Disorders Treatable

Sickle Cell Disease

Gene: HBB

A blood disorder causing abnormal hemoglobin that distorts red blood cells into a sickle shape, causing pain crises and organ damage.

Neurological

Huntington Disease

Gene: HTT

A progressive brain disorder causing uncontrolled movements, emotional problems, and loss of thinking ability. Symptoms typically begin in adulthood.

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Pharmacogenomics

Discover how your genes affect your response to medications. Our pharmacogenomics reports help you and your healthcare provider make more informed decisions about drug selection and dosing.

Explore Drug-Gene Interactions
NCBI

Our Source: GeneReviews

All condition information is sourced from or verified against GeneReviews, an NCBI resource providing "clinically relevant and medically actionable information for inherited conditions."

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