21 - 28 days
Test Updated:
OTCSS
OTC Gene Sequencing Shadow
OTCS
OTC Gene Sequencing
OTC Deficiency
Valproate Sensitivity
Valproic Acid Sensitivity
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Test Overview
The coding exons and associated, adjacent consensus splice sites of the OTC gene are amplified using specific primers, and bidirectionally sequenced using a fluorescent method.
This test is used to detect the presence of OTC mutations in patients with Ornithine Transcarbamylase Deficiency or for carrier testing in families with a known OTC mutation.
Interpretive report provided.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
Specimen Requirements
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….
