Molecular diagnostic testing for selected hematologic diseases

INHERITED DISORDERS:

CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and
leukoencephalopathy)
Gaucher’s disease

MYH9-related disorders (May-Hegglin, Epstein, Fechtner, Sebastian syndromes)

ELANE mutation testing (for cyclic or congenital neutropenia)

Transthyretin gene sequence (familial amyloidosis)

Fanconi anemia

INFECTIOUS DISEASE

Epstein-Barr virus
HHV-6
Parvovirus B-19

Please notify me (williams@medicine.wisc.edu) if any of these links do not work,
or with suggestions for additional tests