Biotinidase Deficiency Gene Sequencing

Test Code

16526

CPT Codes
81404

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.

Preferred Specimen

5 mL whole blood collected in an EDTA (lavender-top) tube

Minimum Volume

3 mL

Other Acceptable Specimens

Lithium heparin (green-top) tube • ACD solution A (yellow-top) tube

Transport Temperature

Room temperature

Specimen Stability

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

Methodology
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: Sun; Report available: 17 days

Reference Range

See Laboratory Report

Clinical Significance

Biotinidase Deficiency (BD) is an inborn error of metabolism affecting the metabolism of the vitamin biotin. Untreated, BD results in metabolic uncoupling with ketoacidosis, failure to thrive, dermatological manifestations and seizures. BD is easily treated by the administration of exogenous biotin by mouth. Newborn screening is available for BD by enzymatic analysis of newborn screening blood spots. Unfortunately this assay has many false positives. DNA sequencing overcomes this problem. Finding 2 deleterious variants will confirm the diagnosis of BD and allow treatment to be begin prior to the development of symptoms.
In addition, Biotinidase Sequencing will allow carrier detection and prenatal diagnosis for families with an affected individual.

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.