Ordering
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
  • Sample requirements
  • Request a sample kit
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SOS1

Alias

GF1; GGF1; GINGF; HGF; NS4

Associated disorders

The SOS1 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 339908).

An estimated 10%-15% of Noonan syndrome is caused by pathogenic variants identified in SOS1 gene.

The SOS1 gene encodes is a guanine nucleotide exchange factor for RAS proteins. SOS1 protein regulates RAS proteins by converting GTP-bound activated RAS to GDP-bound inactive RAS. SOS1 protein is a negative regulator of RAS proteins which stimulate cells to grow and divide during embryonic development.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
SOS1 NM_005633.3