MOLECULAR DIAGNOSTIC TESTS

INHERITED DISORDERS:

CADASIL     (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy)

Gaucher's disease

Hemophilia A carrier testing

Hemophilia B carrier testing

von Willebrand disease - Normandy subtype

Protein S Heerlen mutation

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

ELA2 mutation testing (for cyclic or congenital neutropenia)

Transthyretin gene sequence (familial amyloidosis)

Fanconi anemia

INFECTIOUS DISEASE:

Epstein-Barr virus

HHV-6

Parvovirus B-19
 

NEOPLASTIC DISEASE

JAK2 V617F Mutation (myeloproliferative disorders)

CHIC2, 4q12 Anomalies  (hypereosinophilic syndrome)

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