Genetics

mandellian

dominant

NF

there is gene test but the diagnosis is made clinically the more sever the disorder, the more likely it's sporadic mutation

Marfan

there is gene test but the diagnosis is made clinically

non mandelian

chromosome

dx. Subtopic. blood cell. for routine, takes 2-4 days. bone marrow. very fast; takes several hours. skin. detect mosaisim.

micordeletion

small chromosome deletion not visible on routine cytomchrome

dx. FISH. Flurescent in situ hybridization lableled probe used to detect chromosomes normal 2. if 1 it's from deletion. examp.. Prader willi, DiGorge syn; williams.

metabolics

lysosomal. usually presents with regression.