Health Library
Explore our comprehensive collection of genetic health information, sourced from GeneReviews and other authoritative medical sources.
Common Genetic Conditions
View AllCystic 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 …
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.
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%.
Familial Hypercholesterolemia
Genes: LDLR, APOB, PCSK9
Inherited high cholesterol that leads to early heart disease if untreated. LDL cholesterol is significantly elevated from birth.
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.
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
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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