
Biotinidase Deficiency (BTD gene)
Test Information | |
---|---|
Test Name | Biotinidase Deficiency (BTD gene) |
Lab (Location) | London Health Sciences Centre |
Category | Metabolic |
Subcategory | Biotinidase Deficiency |
Gene/Platform/Region List | BTD |
Test type | Single Gene |
Samples Accepted | Blood, DNA, Cultured Cells, Buccal, Saliva |
Indications Diagnosis | Diagnosis, Carrier / Cascade Testing, Prenatal |
Test Methodology | Sequencing |
Diseases/Conditions | 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 |