Biotinidase Activity with Reflex to Gene Sequencing

Test Code

16537

CPT Codes
82261

Physician Attestation of Informed Consent

This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.

Includes

If Biotinidase Activity is <5.5, then Biotinidase Deficiency Gene Sequencing will be performed at an additional charge (CPT code(s): 81404).

Preferred Specimen

2 mL serum collected in a serum separator tube (SST) and
⁠⁠⁠⁠⁠⁠⁠5 mL whole blood collected in an EDTA (lavender-top), ACD-A (yellow-top), or lithium heparin (green-top) tube

Minimum Volume

1 mL serum or plasma • 3 mL whole blood

Other Acceptable Specimens

2 mL plasma collected in an EDTA (lavender-top), or sodium or lithium heparin (green-top) tube and 5 mL whole blood collected in an EDTA (lavender-top), ACD-A (yellow-top), or lithium heparin (green-top) tube

Instructions

This panel requires serum (or plasma) and whole blood

Serum/plasma: Separate within one hour of collection and store at minimum -20° C or below. Use dry ice for shipment.

Whole Blood: Normal phlebotomy procedure. Specimen stability is crucial. Store and ship at room temperature immediately. Do not freeze.

Transport Temperature

Serum or plasma: Frozen
Whole blood: Room temperature

Specimen Stability

Serum or plasma
Room temperature: Unacceptable
Refrigerated: Unacceptable
Frozen -20° C: 30 days
Frozen -70° C: 90 days

Whole blood
Room temperature: 14 days
Refrigerated: 14 days
Frozen: Unacceptable

Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)

Hemolysis

Methodology
Colorimetric (C) • Enzymatic • Reflex: Next Generation Sequencing

FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Setup Schedule

Set up: Tues, Thurs.; Report available: 3-8 days

Limitations

This assay cannot rule out the possibility of biotinidase deficiency caused by any other type of mutation in the BTD gene. Biochemical enzyme analysis and DNA studies can predict the occurrence of biotinidase deficiency, but not the severity of the condition.

Clinical Significance

This test can confirm biotinidase deficiency in infants identified by newborn screening. Individuals with low enzyme activity will be reflexed to DNA sequencing to identify pathogenic variants.

The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.