Clinical Genetic Test
offered by
GTR Test Accession:
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GTR000593847.1
CAP
Last updated in GTR: 2021-08-24
View version history
GTR000593847.1, last updated: 2021-08-24
Last annual review date for the lab: 2023-07-14
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At a Glance
Test purpose:
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Diagnosis
Conditions (9):
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RASopathy; CBL-related disorder; Cardiofaciocutaneous syndrome 1; ...
Genes (14):
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BRAF (7q34), CBL (11q23.3), HRAS (11p15.5), KRAS (12p12.1), MAP2K1 (15q22.31), ...
Methods (1):
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Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Individuals suspected of having a genetic disorder caused by a …
Clinical validity:
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Noonan syndrome is caused by pathogenic/likely pathogenic variants in PTPN11(50% …
Clinical utility:
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Establish or confirm diagnosis
Ordering Information
Offered by:
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Specimen Source:
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- Cord blood
- Fetal blood
- Isolated DNA
- Peripheral (whole) blood
- Saliva
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
Test Order Code:
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NGSRP
View other test codes
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CPT codes:
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Contact Policy:
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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:
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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
Order URL
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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No
Pre-test genetic counseling required:
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No
Post-test genetic counseling required:
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No
Recommended fields not provided:
Lab contact for this test,
Test strategy
Conditions
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Total conditions: 9
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 14
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis
Clinical validity:
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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 …
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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:
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Establish or confirm diagnosis
View citations (2)
- Roberts AE. Noonan Syndrome. 2001 Nov 15 [updated 2022 Feb 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. PMID: 20301303.
- https://www.ncbi.nlm.nih.gov/books/NBK1124
Target population:
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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?
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VUS and novel variants will be interpreted by trained variant analysis team member and a lab director using the current ACMG variant classification criteria.
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?
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No.
No.
Will the lab re-contact the ordering physician if variant interpretation changes?
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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.
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:
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Analytical sensitivity >99%. Analytical specificity >99%. Accuracy/precision >99%.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
College of American Pathologists, CAP
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
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Unusual or clinically significant novel variants will be communicated to the ordering provider via telephone call or email communication.
Unusual or clinically significant novel variants will be communicated to the ordering provider via telephone call or email communication.
Recommended fields not provided:
Test Confirmation,
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Category:
Not Applicable
Additional Information
Reviews:
Clinical resources:
Consumer resources:
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.