NGS RASopathy Panel
GTR Test Accession: Help GTR000593847.1
Last updated in GTR: 2021-08-24
Last annual review date for the lab: 2023-07-14 LinkOut
At a Glance
RASopathy; CBL-related disorder; Cardiofaciocutaneous syndrome 1; ...
BRAF (7q34), CBL (11q23.3), HRAS (11p15.5), KRAS (12p12.1), MAP2K1 (15q22.31), ...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Individuals suspected of having a genetic disorder caused by a …
Noonan syndrome is caused by pathogenic/likely pathogenic variants in PTPN11(50% …
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Institute for Genomic Medicine (IGM) Clinical Laboratory
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
Test Order Code: Help
CPT codes: Help
**AMA CPT codes notice
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Samples can be accepted 7 days a week (Monday - Sunday). All samples must be labeled with minimum of two patient identifying information (e.g. Patient Name and Date of Birth). Please submit all samples with a completed test requisition form.
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Pre-test genetic counseling required: Help
Post-test genetic counseling required: Help
Recommended fields not provided:
Conditions Help
Total conditions: 9
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 14
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Clinical validity: Help
Noonan syndrome is caused by pathogenic/likely pathogenic variants in PTPN11(50% of clinically diagnosed patients), SOS1 (10%), KRAS (<5%), RAF1 (3%-17%), NRAS (1% or less), SHOC2 (1% or less), and RIT1 (5-10%). Costello syndrome is caused by pathogenic/likely pathogenic variants in HRAS (80%-90%) and KRAS(10%-15%). CFC syndrome is caused by pathogenic/likely … View more
View citations (1)
  • Rauen KA. The RASopathies. Annu Rev Genomics Hum Genet. 2013;14:355-69. doi:10.1146/annurev-genom-091212-153523. Epub 2013 Jul 15. PMID: 23875798.
Clinical utility: Help
Establish or confirm diagnosis
View citations (2)

Target population: Help
Individuals suspected of having a genetic disorder caused by a gene in the RAS pathway, e.g. Noonan syndrome, Costello syndrome, cardio-facio-cutaneous (CFC) syndrome, or multiple lentigines syndrome (LEOPARD syndrome).
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
VUS and novel variants will be interpreted by trained variant analysis team member and a lab director using the current ACMG variant classification criteria.

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. No systemic re-evaluation of previously reported variants/findings are currently performed. However, if the same variant/finding is identified in another patient and current assessment results in change in variant classification/interpretation, then the laboratory will recontact the ordering provider and issue an updated report.
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity >99%. Analytical specificity >99%. Accuracy/precision >99%.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
College of American Pathologists, CAP
Laboratory's policy on reporting novel variations Help
Unusual or clinically significant novel variants will be communicated to the ordering provider via telephone call or email communication.
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information

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