Genetic Test Details

FISH: Smith-Magenis syndrome

Test Information

Title
FISH: Smith-Magenis syndrome
Lab
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: November 26, 2025

The information on this website is intended for informational purposes only and is not a substitute for medical advice. Always consult your health care provider if you have questions or concerns. The use of the information on this website does not create a physician-patient relationship between Ontario Health and you.
Ontario Health is committed to ensuring accessible services and communications to individuals with disabilities. To receive any information on this website in an alternate format, please contact Ontario Health’s Communications Department at: 1-877-280-8538, TTY 1-800-855-0511, or by email at info@ontariohealth.ca.

© Ontario Health 2025