Beckwith-Wiedemann Syndrome

Test Information

Title
Beckwith-Wiedemann Syndrome
Lab
Category
Skeletal growth
Test Name (CMS Title)
Beckwith-Wiedemann Syndrome
Gene/Platform/Region List
CDKN1C, H19 (IC1), KCNQ1 (IC2), 11p15
Test type
Single Gene
Samples Accepted
Blood, DNA, DNA (Not Accepted for MLPA)
Indications
Diagnosis
Test Methodology
Methylation
Methodology Notes
MLPA and STR of H19 (IC1) and KCNQ1 (IC2) region; UPD Analysis only 11p15; Gene Sequencing (Sanger - Robot); Targeted Sanger Sequencing
Disease/Condition
BWS, Wiedemann-Beckwith Syndrome, IMAGe 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