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.
This assay will not detect large deletions in the SLC17A8 gene or intronic mutations outside the region sequenced in the SLC17A8 gene. This assay is performed to detect a single mutation [632C>T (A211V)] in the SLC17A8 gene, and other mutations in this gene may not be detected. Mutations in other genes associated with the aforementioned syndrome will not be detected.
- SLC17A8 632C>T Mutation Screening
- SLC17A8 Exon 5 Seq Shadow
- SLC17A8 A211V Mutation Screening
- SLC17A8 Exon 5 Sequencing
- DFNA25 Testing
- 632C>T Mutation Detection
- Hearing Loss
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….
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 includes medical geneticist interpretation of results billed as a separate additional charge. This test is not available without interpretation.