Genetic Test Details
Constitutional FISH Test: Wolf-Hirschhorn syndrome
Test Information
- Titre
-
Constitutional FISH Test: Wolf-Hirschhorn syndrome
- Catégorie
- Chromosomal Anomalies
- Sub Category
-
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
- Diagnostics, Carrier Cascade Testing, Prenatal
- 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)
Dernière Mise à Jour: 05 septembre 2025