Biotinidase Gene Sequencing
Multiple Carboxylase Deficiency
Holocarboxylase Synthetase Deficiency
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The coding exons and flanking consensus splice sites of the BTD gene are amplified using specific primers, and bidirectionally sequenced using a fluorescent method.
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.
Interpretive report provided.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
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….