Specific circumstances in which single gene testing might be useful

Specific circumstances in which single gene testing might be useful

What are some specific circumstances in which single gene testing might be useful?

  • Pharmacogenetics—to determine drug efficacy (e.g., CYP2C19 in clopidigrel oxidation), drug toxicity (e.g., HLA-B∗1502 in Stevens–Johnson syndrome susceptibility with carbamazepine, TMPT in bone marrow suppression with azathioprine)
  • Diagnosis and presymptomatic genetic testing (e.g., PS1/PS2/APP in familial and APOE4 in sporadic AD, HD in Huntington’s disease)
  • Prognosis (e.g., dystrophin in Duchenne’s muscular dystrophy, SCN1A in Dravet’s syndrome)
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