Genetic Test Details

Homocystinuria: Hypermethioninemia

Test Information

Title
Homocystinuria: Hypermethioninemia
Category
Metabolic
Sub Category
Amino Acid Disorders
Gene/Platform/Region List
ADK, AHCY, CBS, GNMT, MAT1A, SLC25A13
Test type
Gene Panel
Samples Accepted
Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications
Diagnosis, Carrier Cascade Testing
Test Methodology
Sequencing
Disease/Condition
Hypermethioninemia, homocystinuria

Last Updated: June 04, 2026