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
Skin Punch , Blood , Products of Conception , Cultured Cells , CVS , Amniocyte
Indications
Carrier Cascade Testing , Diagnosis , 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: 18 juin 2025