FISH: Smith-Magenis syndrome

Test Information
Test Name FISH: Smith-Magenis syndrome
Lab (Location) Children's Hospital of Eastern Ontario
Category Chromosomal Anomalies
Subcategory Smith-Magenis Syndrome
Gene/Platform/Region List RAI1, 17p11.2

Test type Cytogenetic
Samples Accepted Blood, Amniocyte, CVS
Indications Diagnosis Diagnosis, Carrier / Cascade Testing, Prenatal
Test Methodology FISH
Methodology Notes Metaphase FISH
Diseases/Conditions Smith-Magenis syndrome (Smith-Magenis syndrome (SMS), Chromosome 17p11.2 deletion syndrome)
Notes Before requesting this test, please contact the lab for information regarding eligibility and availability of testing for your patient.