Genetic Test Details

FISH: Smith-Magenis Syndrome

Test Information

Titre
FISH: Smith-Magenis Syndrome
Catégorie
Chromosomal Anomalies
Sub Category
FISH: Smith-Magenis Syndrome
Gene/Platform/Region List
RAI1(17p11,.2)/LIS1(17p13.3)
Test type
Cytogenetic
Samples Accepted
Blood , Fibroblasts
Indications
Diagnosis , Prenatal
Test Methodology
FISH
Methodology Notes
FISH on cultured cells
Disease/Condition
Smith-Magenis Syndrome, Microdeletion 22q11.2 Syndrome

Dernière Mise à Jour: 18 juin 2025