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Biotinidase Deficiency (BTD gene)
Test Information
- Title
-
Biotinidase Deficiency (BTD gene)
- Category
- Metabolic
- Test Name (CMS Title)
-
Biotinidase Deficiency
- Gene/Platform/Region List
-
BTD
- Test type
- Single Gene
- Samples Accepted
- Blood, DNA, Buccal Swab, Saliva
- Indications
- Diagnosis, Carrier Cascade Testing
- Test Methodology
- Sequencing
- Disease/Condition
-
Biotinidase Deficiency, Late-Onset Multiple Carboxylase Deficiency, BTD Deficiency, infantile multiple carboxylase deficiency, juvenile multiple carboxylase deficiency, delayed-onset biotinidase deficiency, profound biotinidase deficiency, partial biotinidase deficiency
Last Updated: December 09, 2025
