The coding exons and associated, flanking splice sites of the KRAS gene are amplified using specific primers, and bidirectionally sequenced using a fluorescent method.
To detect the presence of KRAS mutations in patients with a diagnosis of Noonan syndrome, Cardio-facio-cutaneous (CFC) syndrome, or Costello syndrome, particularly if PTPN11 and SOS1 testing for Noonan syndrome was previously performed, and for carrier testing in families with a known KRAS mutation. All coding exons and associated flanking splice sites of the KRAS gene will be sequenced.
Interpretive report provided.
This assay will not detect large deletions in the KRAS gene or intronic mutations outside region sequenced in the KRAS gene. In addition, mutations in other genes associated with the aforementioned syndromes will not be detected. This test is not suitable for the detection of mutations in codons 12, 13, and 61 of the KRAS gene using DNA extracted from formalin-fixed paraffin-embedded tissue blocks.
21 - 28 days
- KRAS test in inherited disease
- KRAS-inherited disease,shadow
- Noonan Syndrome
- Cardio Facio Cutaneous (CFC) Syndrome
- Costello Syndrome
- v-Ki-Ras2 Kirsten Rat Sarcoma viral oncogene homolog Gene Sequencing
- KRAS / KRAS2 Mutation Analysis
- RASK / RASK2 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.