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
DNA , Blood , Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications
Carrier Cascade Testing , Diagnosis
Test Methodology
Sequencing
Disease/Condition
Hypermethioninemia, homocystinuria

Last Updated: June 23, 2025