NGS RASopathy Panel
GTR Test Accession: Help GTR000593847.1
CAP
INHERITED DISEASEDYSMORPHOLOGYCARDIOVASCULAR ... View more
Last updated in GTR: 2021-08-24
Last annual review date for the lab: 2023-07-14 LinkOut
At a Glance
Diagnosis
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
No
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
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
Methodology
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
Diagnosis
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
No.

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
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
College of American Pathologists, CAP
VUS:
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

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.