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