FISH: Smith-Magenis syndrome

Test Information

Titre
FISH: Smith-Magenis syndrome
Lab
Catégorie
Chromosomal Anomalies
Test Name (CMS Title)
Smith-Magenis Syndrome
Gene/Platform/Region List
RAI1, 17p11.2
Test type
Cytogenetic
Samples Accepted
Blood
Indications
Diagnostics, Carrier Cascade Testing
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: 09 décembre 2025