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Muenke Syndrome - FGFR3 Gene (PRO250ARG)
Clinical Genetic Test
Help
offered by
Center for Genetics at Saint Francis
View lab's test page
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GTR Test Accession: Help GTR000502958.6
CAP
INHERITED DISEASEDYSMORPHOLOGYMUSCULOSKELETAL ... View more
Last updated in GTR: 2024-07-26
View version history
Last annual review date for the lab: 2024-07-30 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation
Conditions (1): Help
Muenke syndrome
Genes (1): Help
FGFR3 (4p16.3)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: SNP Detection
Target population: Help
Individuals exhibiting symptoms consistent with Muenke syndrome; 100% of Muenke …
Clinical validity: Help
100% of Muenke syndrome cases are due to the p.Pro250Arg …
Clinical utility: Help
Establish or confirm diagnosis; Predictive risk information for patient and/or family members
Ordering Information
Offered by: Help
Center for Genetics at Saint Francis
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
  • Physician Assistant
Lab contact: Help
Lynne Whetsell, BS, MB(ASCP), Staff
lhwhetsell@saintfrancis.com
918-502-3808
Tonya Jones, BS, CG(ASCP), MB(ASCP), Administrator
tsjones@saintfrancis.com
918-502-1730
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order: Help
1. Choose the desired test from the Test Directory.
2. Obtain information on the required specimen for the specific test from the Test Information page.
3. Fill out the necessary test requisition form and any other required forms from the Forms page.
4. Provide the required Billing information or make …
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Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test development: Help
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required: Help
No
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Test Order Code, Test strategy
Conditions Help
Total conditions: 1
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
Targeted variant analysis
SNP Detection
PCR and restriction enzyme digestion
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Clinical validity: Help
100% of Muenke syndrome cases are due to the p.Pro250Arg variant in the FGFR3 gene.
View citations (1)
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)

Predictive risk information for patient and/or family members
View citations (1)

Target population: Help
Individuals exhibiting symptoms consistent with Muenke syndrome; 100% of Muenke syndrome cases are due to the p.Pro250Arg variant in the FGFR3 gene.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
N/A

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
Confirmation is performed on a new blood specimen (if submitted) and a separate DNA preparation using the same methodology.
Test Confirmation: Help
Confirmation is performed on a new blood specimen (if submitted) and a separate DNA preparation using the same methodology.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity, specificity and accuracy greater than 99%; determined by in-house validations.
View citations (1)
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
CAP Survey MGL3 for Sequencing Platform

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
VUS:
Software used to interpret novel variations Help
N/A

Laboratory's policy on reporting novel variations Help
N/A
Recommended fields not provided:
Assay limitations, Description of internal test validation method, Description of PT method, Major CAP category, CAP category, CAP test list
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.