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
- Indications
- Diagnosis, Carrier Cascade Testing
- Test Methodology
- Sequencing
- Disease/Condition
-
Carbonic Anhydrase Deficiency, Holocarboxylase Synthetase Deficiency, Biotinidase Deficiency
Last Updated: November 26, 2025