GTR Test Accession:
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GTR000322090.1
Last updated in GTR: 2014-06-02
View version history
GTR000322090.1, last updated: 2014-06-02
Last annual review date for the lab: 2021-05-14
Past due
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At a Glance
Test purpose:
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Diagnosis
Conditions (2):
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Acrocephalosyndactyly type I; Craniosynostosis syndrome
Genes (1):
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FGFR2 (10q26.13)
Methods (2):
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Molecular Genetics - Sequence analysis of select exons: Bi-directional Sanger Sequence Analysis; ...
Target population: Help
Not provided
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Test Order Code:
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LV1368
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.
Test additional service:
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Custom Prenatal Testing
Informed consent required:
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Decline to answer
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
How to Order,
Specimen source,
Lab contact for this test,
Test strategy,
Test development
Conditions
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Total conditions: 2
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: 2
Method Category
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Test method
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Instrument *
Sequence analysis of select exons
Bi-directional Sanger Sequence Analysis
Targeted variant analysis
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis
Recommended fields not provided:
Clinical validity,
Clinical utility,
Target population,
What is the protocol for interpreting a variation as a VUS?,
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 Comments:
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Mutation screening in exons 8 and 10 of 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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100.00%
Proficiency testing (PT):
Is proficiency testing performed for this test?
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No
No
Recommended fields not provided:
Test Confirmation,
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
PT Provider,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Not provided
Additional Information
Clinical resources:
Molecular resources:
IMPORTANT NOTE:
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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.