Homocystinuria

Test Information

Title
Homocystinuria
Lab
Category
Metabolic
Test Name (CMS Title)
Amino Acid Disorders
Gene/Platform/Region List
ADK, AHCY, CBS, GNMT, MAT1A, SLC25A13, MTHFR, MTR, MTRR
Test type
Samples Accepted
Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications
Diagnosis, Carrier Cascade Testing
Test Methodology
Sequencing
Disease/Condition
Adenosine Kinase Deficiency, SAH Deficiency, Cystathionine Beta-Synthase Deficiency, Homocystinuria, Glycine N-Methyltransferase Deficiency, MAT Deficiency, Citrin Deficiency, Methylenetetrahydrofolate Reductase Deficiency, CblE, CblG

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