28 days
Test Updated:
SOS1S
SOS1 SEQUENCING
SOS1SS
SOS1 Sequencing Shadow
Son of Sevenless homolog 1 Gene Sequencing
Noonan Syndrome
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Test Overview
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.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
Specimen Requirements
Collect specimen in a lavender top tube. Send intact specimen to the lab within 24 hours. 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 by contacting the MMGL Molecular Genetics Laboratory at 615-2429 during business hours Monday - Friday or online at https://mlabs.umich.edu/sites/default/files/2020-01/file/pci-mmgl_infor….
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….
