Rasopathies NGS Panel
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000521479.3
INHERITED DISEASEDYSMORPHOLOGYMUSCULOSKELETAL ... View more
Last updated in GTR: 2015-03-31
Last annual review date for the lab: 2015-03-06 Past due LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Fibromatosis, gingival, 1; 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)
Clinical features consistent with Rasopathies
Not provided
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Health in Code
View lab's website
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Physician Assistant
  • Public Health Mandate
  • Registered Nurse
How to Order: Help
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Deletion/Duplication Testing
Custom Sequence Analysis
Data Storage and Backup
Genetic counseling
Result interpretation
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 26
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 12
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)
Qiagen QIAcube
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Predictive; Prognostic; Risk Assessment; Screening
Clinical utility: Help
Establish or confirm diagnosis
View citations (2)
  • Genetics of cardiomyopathies: novel perspectives with next generation sequencing. Monserrat L, et al. Curr Pharm Des. 2015;21(4):418-30. doi:10.2174/138161282104141204123748. PMID: 25483943.
  • http://www.healthincode.com/

Target population: Help
Clinical features consistent with Rasopathies
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
1-Previously reported or identified in our lab 2-Reported in controls (from our lab, dbSNP, ENSEMBL, NHLBI GO ESP) 3-Functional studies 4-Variant affecting the same domain/close variants 5-Bioinformatics tools

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. We use to inform about any relevant update by e-mail. The update is always included in a new report made for a carrier relative.
Recommended fields not provided:
Technical Information
Test Confirmation: Help
Sanger direct sequencing/ PCR
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
This test detects > 99% of substitution variants and small insertions and deletions.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory

PT Provider: Help
European Molecular Genetics Quality Network, EMQN
VUS:
Software used to interpret novel variations Help
Own clinical database, SIFT, Polyphen-2, PMUT, SSF, HSF, MaxEnt, NNSplice

Laboratory's policy on reporting novel variations Help
We inform about them in our test report
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information

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