Constitutional FISH Test: Wolf-Hirschhorn syndrome

Test Information

Title
Constitutional FISH Test: Wolf-Hirschhorn syndrome
Lab
Category
Chromosomal Anomalies
Test Name (CMS Title)
FISH: Wolf-Hirschhorn Syndrome
Gene/Platform/Region List

NSD2(MMSET)/NELFA(WHSC2)

Test type
Cytogenetic
Samples Accepted
Blood, Products of Conception, Skin Punch
Indications
Diagnosis, Carrier Cascade Testing
Test Methodology
FISH
Methodology Notes

metaphase and interphase FISH

Disease/Condition

Wolf-Hirschhorn syndrome (Wolf-Hirschhorn syndrome (WHS), 4p- syndrome, Pitt-Rogers-Danks syndrome (PRDS), monosomy 4p)

Last Updated: November 14, 2025

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