Genetic Test Details
Multiple Carboxylase Deficiency
Test Information
- Title
-
Multiple Carboxylase Deficiency
- Category
- Metabolic
- Sub Category
-
Organic Acid Disorders
- Gene/Platform/Region List
-
CA5A, HLCS, BTD
- 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
-
Carbonic Anhydrase Deficiency, Holocarboxylase Synthetase Deficiency, Biotinidase Deficiency
Last Updated: June 23, 2025