The coding exons and associated, flanking splice sites of the SOS1 gene are amplified using specific primers, and bidirectionally sequenced using a fluorescent method.
To detect the presence of SOS1 mutations in patients with a diagnosis of Noonan syndrome, particularly if PTPN11 (with or without KRAS) mutation analysis was previously performed, and for carrier testing in families with a known SOS1 mutation. All coding exons and associated flanking splice sites of the SOS1 gene will be sequenced.
Interpretive report provided.
This assay will not detect large deletions in the SOS1 gene or intronic mutations outside the region sequenced in the SOS1 gene. In addition, mutations in other genes associated with Noonan syndrome will not be detected.
- SOS1 SEQUENCING
- SOS1 Sequencing Shadow
- Son of Sevenless homolog 1 Gene Sequencing
- Noonan Syndrome
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.