Genetic Test Details

Constitutional FISH panel: Smith-Magenis Syndrome

Test Information

Title
Constitutional FISH panel: Smith-Magenis Syndrome
Lab
Category
Chromosomal Anomalies
Sub Category
FISH: Smith-Magenis Syndrome
Gene/Platform/Region List
SHMT1/TOP3A/FLII/LLGL1
Test type
Cytogenetic
Samples Accepted
Blood , Cultured Cells , Amniocyte , CVS , Products of Conception , Skin Punch
Indications
Diagnosis , Prenatal
Test Methodology
FISH
Methodology Notes
Constitutional FISH
Disease/Condition
Smith-Magenis syndrome (Smith-Magenis syndrome (SMS), Chromosome 17p11.2 deletion syndrome)

Last Updated: June 23, 2025

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