Ordering Recommendation

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).

Mnemonic

BTD NGS

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

3 weeks

New York DOH Approval Status

Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.

Specimen Required

Patient Preparation
Collect

Lavender (EDTA) or Yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 3 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens

Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval

By report

Interpretive Data

Refer to report.

Compliance Category

Note

Gene tested: BTD (NM_001370658)
BTD (NM_000060) exon 1 is not covered by sequencing.

Hotline History

N/A

CPT Codes

81404

Components

Component Test Code* Component Chart Name LOINC
3004425 Biotinidase Deficiency Specimen 66746-9
3004426 Biotinidase Deficiency Interp 53845-4
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • Late-Onset Multiple Carboxylase Deficiency
Biotinidase Deficiency (BTD) Sequencing