Days Set Up
Monday - Friday
Analytic Time

28 days

MiChart Code
BTD Gene Sequencing (MMGL)
Soft Order Code
BTDS

Test Updated:

Synonyms

BTDS
Biotinidase Gene Sequencing
Multiple Carboxylase Deficiency
Holocarboxylase Synthetase Deficiency

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Find a Requisition

All specimens should be accompanied by a requisition.

Submitting Specimens

Learn about how to properly label and where to ship specimens.

Order Kits and Supplies

MLabs provides all the supplies necessary for the collection of specimens.

Test FAQ

Visit our provider FAQ and learn about common questions to ordering tests.

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.

Specimen Requirements

Offsite 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

Billing Information

CPT Code
81404
Pro Fee Code
 
LOINC
 

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Our High Standard

Quality that sets us apart

As the reference laboratory division of Michigan Medicine's Department of Pathology, MLabs shares the institution's commitment to applying established quality principles to clinical laboratory testing. Like other large organizations in complex, consequential fields, we rely on an established approach to monitor quality throughout the testing process.