Constitutional FISH panel: Smith-Magenis Syndrome

Test Information

Titre
Constitutional FISH panel: Smith-Magenis Syndrome
Lab
Catégorie
Chromosomal Anomalies
Test Name (CMS Title)
FISH: Smith-Magenis Syndrome
Gene/Platform/Region List
SHMT1/TOP3A/FLII/LLGL1
Test type
Cytogenetic
Samples Accepted
Blood, Products of Conception, Skin Punch
Indications
Diagnostics
Test Methodology
FISH
Methodology Notes
Constitutional FISH
Disease/Condition
Smith-Magenis syndrome (Smith-Magenis syndrome (SMS), Chromosome 17p11.2 deletion syndrome)

Dernière Mise à Jour: 09 décembre 2025