Test Overview
Test Methodology

The coding exons and flanking consensus splice sites of the BTD gene are amplified using specific primers, and bidirectionally sequenced using a fluorescent method.

Test Usage

BTD gene sequencing can be performed on a patient who has biotinidase deficiency, a low level BTD enzymatic activity, or for determining carrier status of family members of an affected patient.

Reference Range *

Interpretive report provided.

* Reference ranges may change over time. Please refer to the original patient report when evaluating results.

Test Limitations

This assay will not detect large deletions in the BTD gene or intronic mutations outside the region sequenced in the BTD gene.

Test Details
Days Set Up
Monday - Friday
Analytic Time

28 days

Soft Order Code
BTDS
MiChart Code
BTD Gene Sequencing (MMGL)
Synonyms
  • BTDS
  • Biotinidase Gene Sequencing
  • Multiple Carboxylase Deficiency
  • Holocarboxylase Synthetase Deficiency
Laboratory
MMGL
Section
MMGL Molecular Genetics
Specimen Requirements
Collection Instructions

Collect specimen in a lavender top tube. Send intact specimen within 24 hours if stored at room temperature or within 5 days if stored refrigerated. Include the patient's family history, pedigree, and ethnicity on the test requisition. Obtaining informed consent from the patient prior to genetic testing is strongly recommended. If desired, a UMHS Request and Consent for Genetic Testing form can be obtained from the MMGL Molecular Genetics Laboratory by contacting the MLabs Client Services Center at 800-862-7284 or online at https://mlabs.umich.edu/sites/default/files/2020-01/file/pci-mmgl_infor….

Lavender Top Tube
Normal Volume
5 - 10 mL EDTA whole blood
Minimum Volume
5 mL EDTA whole blood
Additional Information

By ordering this test the clinician acknowledges that informed consent has been obtained from the patient as required by applicable state or federal laws and the ordering clinician has authorization from the patient permitting MLabs to report the test results to the ordering clinician. Test includesmedical geneticist interpretation of results billed as a separate additional charge. This test is not available without interpretation.

Billing
CPT Code
81404
Fee Code
DA078
Pro Fee CPT
G0452-26
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