When reviewing a tissue sample, a clinical geneticist looks for four common genetic disorders including:
- Birth defects that develop from a genetic component (e.g., cleft lip and palate, neural tube defects)
- Chromosome abnormalities (which can cause neurological or reproductive problems)
- Familial cancer
- Single-gene disorders (e.g., cystic fibrosis, muscular dystrophy, Huntington’s disease, sickle cell disease)
