Constitutional FISH panel: 22q11.21 Deletion Syndrome

Test Information

Title
Constitutional FISH panel: 22q11.21 Deletion Syndrome
Lab
Category
Chromosomal Anomalies
Test Name (CMS Title)
FISH: 22q11.21 Deletion Syndrome
Gene/Platform/Region List
HIRA (TUPLE1)
Test type
Cytogenetic
Samples Accepted
Blood, Products of Conception, Skin Punch
Indications
Diagnosis
Test Methodology
FISH
Methodology Notes
Constitutional FISH
Disease/Condition
22q11.21 Deletion Syndrome (DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), conotruncal anomaly face syndrome (CTAF), Opitz G/BBB syndrome, and Cayler cardiofacial syndrome (asymmetric crying facies), Sedlackova syndrome, Shprintzen Syndrome)

Last Updated: November 14, 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.

The province of Ontario Logo
© Ontario Health 2025