The coding exons and associated, adjacent consensus splice sites of the PTPN11, SOS1, and KRAS2 genes plus 3 coding exons of the RAF1 genes are amplified using specific primers, and bidirectionally sequenced using a fluorescent method.
To detect the presence of PTPN11, SOS1, KRAS2, and RAF1 mutations in patients with Noonan syndrome and for carrier testing in families with a known pathogenic mutation for Noonan syndrome.
Interpretive report provided.
This assay will not detect large deletions in the PTPN11, SOS1, KRAS2, or RAF1 genes or any (exonic or intronic) mutations outside the regions sequenced in these genes.
- Noonan Sequencing Panel
- PTPN11 (3 EX)+SOS1 (4 EX) SEQ
- PTPN11(remaining ex)seq Shadow
- PTPN11 (REMAINING EX) SEQ
- KRAS(5ex)+SOS1(19ex)seq Shadow
- KRAS (5 EX)+SOS1 (19 EX) SEQ
- PTPN11 Mutation Analysis
- SOS1 Mutation Analysis
- KRAS2 Mutation Analysis
- RAF1 Mutation Analysis
- Noonan Syndrome Sequencing Panel
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….
This test is a sequential reflexive assay consisting of 3 tiers. Tier I includes PTPN11 exons 3, 8, and 13, SOS1 exons 3, 6, 10, and 16, and RAF1 exons 7, 14, and 17. Tier II includes PTPN11 exons 1, 2, 4-7, 9-12, 14, and 15. Tier III includes SOS1 exons 1, 2, 4, 5, 7-9, 11-15, and 17-23, and KRAS2 exons 2-6. Testing will begin with Tier I and will be followed automatically by Tier II testing at an additional charge if no pathogenic mutations are found in Tier I; Tier III testing will be performed automatically at an additional charge if no pathogenic mutations are found in Tier II. Each Tier may also be ordered individually: indicate Tier I only (order code NSST1), Tier II only (order code NSST2) or Tier III only (order code NSST3). 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.