GTR Test Accession:
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GTR000502863.5
CAP
Last updated in GTR: 2018-09-24
View version history
GTR000502863.5, last updated: 2018-09-24
GTR000502863.4, last updated: 2017-08-07
GTR000502863.3, last updated: 2016-07-27
GTR000502863.2, last updated: 2015-07-27
GTR000502863.1, last updated: 2014-05-02
Last annual review date for the lab: 2021-10-14
Past due
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At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation
Conditions (1):
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Acrocephalosyndactyly type I
Genes (1):
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FGFR2 (10q26.13)
Methods (1):
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Molecular Genetics - Sequence analysis of select exons: Bi-directional Sanger Sequence Analysis
Target population: Help
Individuals exhibiting symptoms consistent with Apert syndrome. One of two …
Clinical validity:
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One of two mutations, S252W or P253R, are found in …
Clinical utility:
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Establish or confirm diagnosis;
Reproductive decision-making
Ordering Information
Offered by:
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Specimen Source:
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- Amniocytes
- Amniotic fluid
- Buccal swab
- Cell culture
- Chorionic villi
- Isolated DNA
- Peripheral (whole) blood
- Product of conception (POC)
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
LOINC codes:
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Lab contact:
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Contact Policy:
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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.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order:
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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 …
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 …
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
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:
Test Order Code,
Test strategy
Conditions
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Total conditions: 1
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 1
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 select exons
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation
Clinical validity:
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One of two mutations, S252W or P253R, are found in 98% of individuals with Apert Syndrome.
Clinical utility:
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Establish or confirm diagnosis
Reproductive decision-making
Reproductive decision-making
Target population:
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Individuals exhibiting symptoms consistent with Apert syndrome. One of two mutations, p.S252W or p.P253R, are found in 98% of individuals with Apert Syndrome.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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HGMD, Disease specific databases and an Internal Variant Database are used for variant interpretation. An assessment is also made with a splice site predictor program. Once established as a VUS, Polyphen and SIFT analyses are performed to help provide an interpretation.
HGMD, Disease specific databases and an Internal Variant Database are used for variant interpretation. An assessment is also made with a splice site predictor program. Once established as a VUS, Polyphen and SIFT analyses are performed to help provide an interpretation.
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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Yes.
Yes.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Yes. Ordering physician or genetic counselor contacted and a revised report issued
Yes. Ordering physician or genetic counselor contacted and a revised report issued
Recommended fields not provided:
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Test Comments:
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Targeting of only exon 8 of the FGFR2 gene.
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, specificity and accuracy greater than 99%; determined by in-house validations.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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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
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
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Polyphen and SIFT
Laboratory's policy on reporting novel variations Help
Routine Report
Polyphen and SIFT
Laboratory's policy on reporting novel variations Help
Routine Report
Recommended fields not provided:
Test Confirmation,
Assay limitations,
Description of internal test validation method,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Category:
FDA exercises enforcement discretion
Additional Information
Clinical resources:
Molecular 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.