The coding exons and associated, flanking splice sites of the PTPN11 gene are amplified using specific primers, and bidirectionally sequenced using a fluorescent method.
To detect the presence of PTPN11 mutations in patients with a diagnosis of Noonan syndrome, LEOPARD syndrome, and other syndromes associated with PTPN11 mutations, particularly if SOS1 (with or without KRAS) mutation analysis was previously performed, and for carrier testing in families with a known PTPN11 mutation. All coding exons and associated flanking splice sites of the PTPN11 gene will be sequenced.
Interpretive report provided.
This assay will not detect large deletions in the PTPN11 gene or intronic mutations outside the region sequenced in the PTPN11 gene. In addition, mutations in other genes associated with the aforementioned syndromes will not be detected.
- PTPN11 SEQUENCING
- PTPN11 Sequencing Shadow
- Noonan Syndrome
- Protein Tyrosine Phosphate non-receptor type 11 Gene Sequencing
- LEOPARD Syndrome
- Multiple Giant Cell Lesion Syndrome
- SHP2 / PTP2C Mutation Analysis
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.