Genetic Test Details

FISH: Smith-Magenis syndrome

Test Information

Title
FISH: Smith-Magenis syndrome
Category
Chromosomal Anomalies
Sub Category
Smith-Magenis Syndrome
Gene/Platform/Region List
RAI1, 17p11.2
Test type
Cytogenetic
Samples Accepted
Blood , CVS , Amniocyte
Indications
Carrier Cascade Testing , Diagnosis , Prenatal
Test Methodology
FISH
Methodology Notes
Metaphase FISH
Disease/Condition
Smith-Magenis syndrome (Smith-Magenis syndrome (SMS), Chromosome 17p11.2 deletion syndrome)

Last Updated: June 23, 2025