Genetic Test Details

Multiple carboxylase deficiency: Other

Test Information

Title
Multiple carboxylase deficiency: Other
Category
Metabolic
Sub Category
Organic Acid Disorders
Gene/Platform/Region List
CA5A, HLCS
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
Multiple carboxylase deficiency

Last Updated: June 23, 2025