Gene panels

Genes and variants most often included on clinical hereditary breast and ovarian cancer (HBOC) multi-gene panels, spanning BRCA1/BRCA2 and the other DNA-damage-repair genes tested alongside them.

8 genes · 3 variants

The mismatch-repair genes screened for Lynch syndrome, the most common inherited cause of colorectal and endometrial cancer.

4 genes

The two variants most frequently tested in an inherited clotting-risk workup: Factor V Leiden and the prothrombin G20210A variant.

2 genes · 2 variants

A core set of pharmacogenes that influence how common medications are metabolized and dosed, drawn from CPIC/PharmGKB-style clinical pharmacogenomic panels.

10 genes · 9 variants

The three genes most commonly implicated in familial hypercholesterolemia, an inherited cause of very high LDL cholesterol and early cardiovascular disease.

3 genes · 2 variants

The CFTR gene and its best-known variants, including F508del, the most common cystic-fibrosis-causing variant.

1 gene · 3 variants

The HFE gene and its two classic variants (C282Y and H63D) associated with hereditary iron-overload disease.

1 gene · 2 variants

Core genes screened for inherited cardiomyopathies, including hypertrophic cardiomyopathy (MYH7, MYBPC3) and the LMNA-related cardiomyopathies.

3 genes

The two genes with the strongest, best-replicated links to inherited Parkinson's disease risk, LRRK2 and GBA1, along with their most-studied risk variants.

2 genes · 2 variants

The hemoglobin genes and variants behind the most common inherited hemoglobin disorders, including the sickle cell variant (HbS) in HBB.

2 genes · 2 variants