
Constitutional FISH Test: Wolf-Hirschhorn syndrome
Test Information | |
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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 |