Genetic Test Details

FISH: Smith-Magenis syndrome

Test Information

Titre
FISH: Smith-Magenis syndrome
Catégorie
Chromosomal Anomalies
Sub Category
Smith-Magenis Syndrome
Gene/Platform/Region List

RAI1, 17p11.2

Test type
Cytogenetic
Samples Accepted
Blood, Amniocyte, CVS
Indications
Diagnostics, Carrier Cascade Testing, Prenatal
Test Methodology
FISH
Methodology Notes

Metaphase FISH

Disease/Condition

Smith-Magenis syndrome (Smith-Magenis syndrome (SMS), Chromosome 17p11.2 deletion syndrome)

Dernière Mise à Jour: 05 septembre 2025