22q11.2 Deletion Syndrome

Test Information

Title
22q11.2 Deletion Syndrome
Lab
Category
Neurodevelopmental
Test Name (CMS Title)
22q11.21 Deletion Syndrome
Gene/Platform/Region List
22q11.2
Test type
Samples Accepted
Blood
Indications
Diagnosis
Test Methodology
Methodology Notes
MLPA 29 Genes within the 22q11-13 region
Disease/Condition
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