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Biotinidase Deficiency Gene Sequencing
Test Code16526
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
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.
In addition, Biotinidase Sequencing will allow carrier detection and prenatal diagnosis for families with an affected individual.
Performing Laboratory
Quest Diagnostics Nichols Institute-San Juan Capistrano, CA |
33608 Ortega Highway |
San Juan Capistrano, CA 92675-2042 |