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3004424
Biotinidase Deficiency (BTD) Sequencing
BTD NGS
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).
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
10-15 days
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: 2 weeks; Frozen: Unacceptable
Reference Interval
By report
Interpretive Data
Refer to report.
Compliance Category
Laboratory Developed Test (LDT)
Note
Gene tested: BTD (NM_001370658)
BTD (NM_000060) exon 1 is not covered by sequencing.
Hotline History
Hotline History
Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
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
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