GTR Test Accession:
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GTR000500233.4
CAP
Last updated in GTR:
2021-10-22
View version history
GTR000500233.4,
last updated:
2021-10-22
GTR000500233.3,
last updated:
2020-10-20
GTR000500233.2,
last updated:
2015-01-15
GTR000500233.1,
registered in GTR:
2013-12-03
Last annual review date for the lab: 2022-10-27
Past due
LinkOut
At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation;
Risk Assessment
Conditions (1):
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Failure to thrive
Genes (1):
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CFTR (7q31.2)
Methods (1):
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Molecular Genetics - Targeted variant analysis: PCR with allele specific hybridization
Target population: Help
Caucasians
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 short name:
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CFTR
Specimen Source:
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- Amniocytes
- Amniotic fluid
- Cell culture
- Chorionic villi
- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Licensed Physician
Test Order Code:
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LOINC codes:
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CPT codes:
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Contact Policy:
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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:
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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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Based on applicable state law
Test strategy:
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Testing for the 5T variant near the CFTR exon 9 splice acceptor site is indicated if the R117H mutation is detected with the common CFTR assay.
View citations (1)
- Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmonary disease. Friedman KJ, et al. Hum Mutat. 1997;10(2):108-15. doi:10.1002/(SICI)1098-1004(1997)10:2<108::AID-HUMU3>3.0.CO;2-G. PMID: 9259194.
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:
Lab contact for this test
Conditions
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Total conditions: 1
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 1
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Targeted variant analysis
PCR with allele specific hybridization
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation;
Risk Assessment
Target population:
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Caucasians
View citations (1)
- A 31-mutation assay for cystic fibrosis testing in the clinical molecular diagnostics laboratory. Wall J, et al. Hum Mutat. 1995;5(4):333-8. doi:10.1002/humu.1380050411. PMID: 7627189.
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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No.
No.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Yes. The ordering physician will be contacted for issues on interpretation, ordering of follow-up tests or for patient clinical information.
Yes. The ordering physician will be contacted for issues on interpretation, ordering of follow-up tests or for patient clinical information.
Recommended fields not provided:
Clinical validity,
Clinical utility,
What is the protocol for interpreting a variation as a VUS?,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Test Procedure:
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PCR and reverse dot blot assay
View citations (1)
- A 31-mutation assay for cystic fibrosis testing in the clinical molecular diagnostics laboratory. Wall J, et al. Hum Mutat. 1995;5(4):333-8. doi:10.1002/humu.1380050411. PMID: 7627189.
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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The sensitivity of this assay for maternal cell contamination in prenatal diagnosis samples is approximately 5%.
Assay limitations:
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This assay detects approximately 88% of CFTR mutations in Caucasians, 94% in Ashkenazi Jews, 72% in Hispanics and 65% in African Americans.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Test Confirmation,
Citations to support assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
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
Reviews:
Clinical resources:
Consumer 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.