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CFTR Targeted Mutation Analysis for Cystic Fibrosis
Clinical Genetic Test
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offered by
Molecular Diagnostics Laboratory
View lab's test page
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GTR Test Accession: Help GTR000206182.2
CAP
INHERITED DISEASERESPIRATORY DISEASE
Last updated in GTR: 2019-11-27
View version history
Last annual review date for the lab: 2024-03-11 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Screening
Conditions (1): Help
Cystic fibrosis
Genes (1): Help
CFTR (7q31.2)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: Oligonucleotide Ligation Assay (OLA)
Target population: Help
Molecular testing for CFTR mutations can be used for the …
Clinical validity: Help
This assay detects only the mutations listed at www.DukeMolecular.org. The …
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Molecular Diagnostics Laboratory
View lab's test page
Test short name: Help
CFDNA PCR
Manufacturer's name: Help
CF Genotyping Assay Kit, Abbott Molecular
Specimen Source: Help
Who can order: Help
  • Health Care Provider
Test Order Code: Help
CFDNA PCR
View other test codes
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
Peripheral Blood: One lavender-top EDTA tube (minimum of 3 mls) is required for testing. Forward unprocessed peripheral blood promptly to the laboratory at ambient temperatures. THE SPECIMEN CANNOT BE FROZEN. GREEN-TOP (HEPARIN) TUBES ARE NOT ACCEPTABLE FOR TESTING.

Buccal swab

Amniocytes: 2-4ml of amniotic fluid is required. Forward …
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Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Test development: Help
FDA-reviewed (has FDA test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Lab contact for this test, 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
Oligonucleotide Ligation Assay (OLA)
Applied Biosystems 310
Clinical Information
Test purpose: Help
Diagnosis; Screening
Clinical validity: Help
This assay detects only the mutations listed at www.DukeMolecular.org. The following information is based on testing of the ACMG 23 mutation panel and may be used in the genetic counseling of individuals undergoing carrier screening. • The mutation detection rate, the estimated risk of carrying a single mutation before testing … View more
Target population: Help
Molecular testing for CFTR mutations can be used for the definitive diagnosis of cystic fibrosis and for carrier screening. Indications for testing include: A clinical suspicion of cystic fibrosis. • Infants with meconium ileus • Infants with hyponatremia and hypochloremia of unknown etiology • Infants with hypoproteinemia and anemia • … View more
Recommended fields not provided:
Clinical utility, 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 Platform:
Abbott Celera
Test Comments: Help
23 mutations in ACMG guidelines plus 9 mutations
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
I. Analytical specificity – Primers specific to the CFTR gene. The probes are specific to the their designated allele of interest. II. Assay accuracy- 100% concordance between the Celera ASR cystic fibrosis kit currently used in the Duke Molecular Diagnosis Laboratory and the new Celera Cystic Fibrosis Genotyping Assay kit. … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
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, 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: Help
Category: IVD - In Vitro Device.
FDA Review of (Item reviewed): IVDMIA - In Vitro Diagnostic Multivariate Index Assay(s)
FDA Regulatory Status: FDA cleared/approved
Additional Information

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