• 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




Associated disorders

The RIT1 gene is associated with autosomal dominant Noonan syndrome (MedGen UID 506991).

An estimated 9% of Noonan syndrome is caused by pathogenic variants in RIT1.

The RIT1 gene encodes a RAS-related GTPase involved in p38 MAPK-dependent signalling pathway. RIT1 acts as an on-off switch as either active GTP-bound or an inactive GDP-bound state in response to extracellular signals to regulate cell growth, cell maturation and cell survival. RIT1 responds to nerve growth factor to regulate neural development and diffentiation.

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
RIT1 NM_006912.5