Genetic Test Details

Homocystinuria

Test Information

Title
Homocystinuria
Category
Metabolic
Sub Category
Amino Acid Disorders
Gene/Platform/Region List
ADK, AHCY, CBS, GNMT, MAT1A, SLC25A13, MTHFR, MTR, MTRR
Test type
Gene Panel
Samples Accepted
Blood, DNA
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 26, 2025