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 , Amniocyte , CVS
- Indications
- Diagnosis , 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)
Last Updated: June 23, 2025