Table 3.

Indications for Genetic Work-up or Referral to a Genetic Specialist

Patients with clinical findings indicative of a specific monogenic syndrome or disorder (e.g., polycystic kidneys in a patient with renal dysfunction, multiple polyps on routine colonoscopy, low ceruloplasmin levels in a patient with neurologic deterioration)

Patients with a rare condition that has an established genetic predisposition (e.g., cancer syndromes, severe hyperlipidemia, long QT syndrome, cardiomyopathies, nephrotic syndrome, Huntington disease)

Patients with early disease onset and a strongly positive family history

Patients with rare, unexplained disorders and unrevealing standard diagnostic work-ups

Healthy persons with a family history of a disease for which early diagnosis allows preventive intervention (e.g., sudden cardiac death, ovarian cancer)

Couples preparing to conceive whose ethnicities have a high carrier frequency for specific disorders (e.g., Ashkenazi Jewish) or couples who are related by bloodline (as commonly occurs in the Middle East)