Test Overview
Test Methodology

The coding exons and associated, flanking splice sites of the SOS1 gene are amplified using specific primers, and bidirectionally sequenced using a fluorescent method.

Test Usage

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.

Reference Range *

Interpretive report provided.

* Reference ranges may change over time. Please refer to the original patient report when evaluating results.

Test Limitations

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.

Test Details
Days Set Up
Monday - Friday
Analytic Time

28 days

Soft Order Code
SOS1S
MiChart Code
SOS1 Gene Sequencing in Inherited Disorders
Synonyms
  • SOS1S
  • SOS1 SEQUENCING
  • SOS1SS
  • SOS1 Sequencing Shadow
  • Son of Sevenless homolog 1 Gene Sequencing
  • Noonan Syndrome
Laboratory
MMGL
Section
MMGL Molecular Genetics
Specimen Requirements
Collection Instructions

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….

Lavender Top Tube
Normal Volume
5 - 10 mL EDTA whole blood
Minimum Volume
2 mL EDTA whole blood
Additional Information

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.

Billing
CPT Code
81406
Fee Code
DA037
Pro Fee CPT
G0452-26
Prior Authorization
The Prior Authorization form is required for this test. Click here to download the PDF.
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