The coding exon or a part of the coding exon containing the GJB2 familial mutation is amplified using specific primers and bidirectionally sequenced using a fluorescent method.
GJB2 (connexin 26) targeted sequencing can be performed on a patient with a known familial mutation. If GJB2 sequencing that detected the familial mutation was not performed at MMGL Molecular Genetics Lab, then please send a copy of the clinical laboratory report that documents the familial mutation.
Interpretive report provided.
This analysis will not identify mutations in the regulatory elements, deep intronic regions or coding regions of GJB2 that are not covered by this targeted test. This assay may not detect large deletion or duplication mutations and balanced translocations involving GJB2 gene.
- Connexin 26 Targeted Sequencing
- 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. If the previous testing of the proband was not performed by the MMGL laboratory, please also provide a copy of the clinical molecular genetics report issued by the CLIA-certified testing laboratory for the proband, patient or family member in which the mutation was previously detected. Obtaining informed consent from the patient (or legally authorized representative) 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.