There are a large number of congenital and genetic disorders, too many to include all in this book. If such a condition is suspected, in general the best procedure is to refer the patient or family to a university center that has an active genetics diagnosis program. If the state government health department has a genetic disease detection program, it can provide useful information and help in finding or making referral arrangements.

Some Genetic Disorders Diagnosable with DNA Probes

Huntington’s chorea
Adult polycystic disease
Alpha and beta thalassemia
Congenital adrenal hyperplasia
Duchenne’s and Becker’s muscular dystrophy
Fragile X syndrome
Hemophilia A and B
Myotonic dystrophy
Osteogenesis imperfecta
Alpha-1 antitrypsin deficiency
Cystic fibrosis
Sickle cell hemoglobinopathy
Familial hypertrophic cardiomyopathy