Use to confirm a diagnosis of biotinidase deficiency (BTD) when biotinidase enzymatic activity is low. To diagnose or rule out BTD deficiency, refer to Biotinidase, Serum (with Paired Normal Control) (0093362).
Massively Parallel Sequencing
New York DOH Approval Status
Lavender (EDTA) or Yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 3 mL)
Serum or plasma; grossly hemolyzed or frozen specimens
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Refer to report.
Laboratory Developed Test (LDT)
Gene tested: BTD (NM_001370658)
BTD (NM_000060) exon 1 is not covered by sequencing.
|Component Test Code*||Component Chart Name||LOINC|
|3004425||Biotinidase Deficiency Specimen||66746-9|
|3004426||Biotinidase Deficiency Interp||53845-4|
- Late-Onset Multiple Carboxylase Deficiency