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

5 mL whole blood collected in an EDTA (lavender-top) tube and 2 mL serum collected in a red-top tube (no gel)

Minimum Volume

1 mL serum or plasma • 3 mL whole blood

Other Acceptable Specimens

Whole blood collected in: ACD solution A (yellow-top) or lithium heparin (green-top) tube and 2 mL plasma collected in: EDTA (lavender-top), or sodium 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

Whole blood: Room temperature
Serum: Frozen

Specimen Stability

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

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

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 the U.S. Food and Drug Administration. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Setup Schedule

Set up: Tues, Thurs; Report available: 4-9 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.

Reference Range

Biotinidase

5.1-11.9 nmol/mL/min

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.

Performing Laboratory

Quest Diagnostics Nichols Institute-San Juan Capistrano, CA

33608 Ortega Highway

San Juan Capistrano, CA 92675-2042

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.