Constitutional FISH Test: Wolf-Hirschhorn syndrome

Test Information
Test Name Constitutional FISH Test: Wolf-Hirschhorn syndrome
Lab (Location) Kingston General Hospital
Category Chromosomal Anomalies
Subcategory FISH: Wolf-Hirschhorn Syndrome
Gene/Platform/Region List NSD2(MMSET)/NELFA(WHSC2)
Test type Cytogenetic
Samples Accepted Blood, Cultured Cells, Amniocyte, CVS, Products of Conception, Skin Punch
Indications Diagnosis Diagnosis, Carrier / Cascade Testing, Prenatal
Test Methodology FISH
Methodology Notes metaphase and interphase FISH
Diseases/Conditions Wolf-Hirschhorn syndrome (Wolf-Hirschhorn syndrome (WHS), 4p- syndrome, Pitt-Rogers-Danks syndrome (PRDS), monosomy 4p)
Notes Before requesting this test, please contact the lab for information regarding eligibility and availability of testing for your patient