Fish: Smith-Magenis Syndrome

Test Information
Test Name Fish: Smith-Magenis Syndrome
Lab (Location) The Hospital for Sick Children
Category Chromosomal Anomalies
Subcategory FISH: Smith-Magenis Syndrome
Gene/Platform/Region List RAI1(17p11,.2)/LIS1(17p13.3)
Test type Cytogenetic
Samples Accepted Blood, Fibroblasts
Indications Diagnosis Diagnosis, Prenatal
Test Methodology FISH
Methodology Notes FISH on cultured cells
Diseases/Conditions Smith-Magenis Syndrome, Microdeletion 22q11.2 Syndrome
Notes Before requesting this test, please contact the lab for information regarding eligibility and availability of testing for your patient.