RAF1 targeted Exons sequencing (Exs 7, 14, 17)
GTR Test Accession: Help GTR000509911.3
INHERITED DISEASECARDIOVASCULARDYSMORPHOLOGY ... View more
Last updated in GTR: 2022-06-16
Last annual review date for the lab: 2023-06-16 LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Risk Assessment; ...
Noonan syndrome; LEOPARD syndrome 2; Noonan syndrome 5; ...
Genes (1): Help
RAF1 (3p25.2)
Molecular Genetics - Sequence analysis of select exons: Bi-directional Sanger Sequence Analysis
Patients with a diagnosis of Lysinuric protein intolerance.
Not provided
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Michigan Medical Genetics Laboratories
View lab's website
View lab's test page
Test short name: Help
NSSTS
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
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
Provide appropriate sample, relevant clinical information and a completed requisition form.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
    OrderCode: NSSTS
Confirmation of research findings
    OrderCode: CLIFS
Custom Sequence Analysis
    OrderCode: CLVRS
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Decline to answer
Test strategy: Help
http://www.pathology.med.umich.edu/handbook/
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: 4
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
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 select exons
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3730 capillary sequencing instrument
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment; Screening
Clinical utility: Help
Target population: Help
Patients with a diagnosis of Lysinuric protein intolerance.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Follow ACMG guidelines, suggest family study

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. by Phone or secure email
Recommended fields not provided:
Technical Information
Test Procedure: Help
Using new sample
Test Confirmation: Help
Using new sample
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical Sensitivity 99-100% Accuracy 100% Precision 100%
Assay limitations: Help
This is a targeted sequencing assay that ONLY targetd exons 7, 14 and 17. This assay does not detect variants in the remining exons of the RAF1 gene, promoter region or deep intronic. This assay does not detect large deletions, duplications and rearrangement in the RAF1 gene region.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory
VUS:
Software used to interpret novel variations Help
SIFT, PolyPhen2, RESCUE-ESE Web Server, Berkeley Drosophila Genome Project

Laboratory's policy on reporting novel variations Help
Contact ordering physician by phone and by routine report; recommend clinical genetics follow up and/or genetic counseling and parental testing
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
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.