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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

4p16.3 (NDS2(MMSET)/NELFA(WHSC2))

Test type
Cytogenetic
Samples Accepted
Blood, Cultured Cells, Amniocyte, CVS, Products of Conception, Skin Punch
Indications
Diagnostics, Prenatal
Test Methodology
FISH
Methodology Notes

Constitutional FISH

Disease/Condition

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

Dernière Mise à Jour: 04 juin 2026