28 days
Test Updated:
SLC17S
SLC17A8 632C>T Mutation Screening
SLC17A8 Exon 5 Seq Shadow
SLC17A8 A211V Mutation Screening
SLC17A8 Exon 5 Sequencing
SLC17SS
DFNA25 Testing
VGLUT3
632C>T Mutation Detection
Hearing Loss
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Test Overview
Exon 5 of the SLC17A8 gene is amplified using specific primers, and bidirectionally sequenced using a fluorescent method.
Analysis for the presence of the 632C>T (A211V) mutation in the SLC17A8 gene, in patients with nonsyndromic deafness (DFNA25).
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….
