Cystic Fibrosis
GTR Test Accession: Help GTR000074114.7
CAP
INHERITED DISEASERESPIRATORY DISEASEDYSMORPHOLOGY ... View more
Last updated in GTR: 2024-02-07
Last annual review date for the lab: 2024-02-07 LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation
Genes (1): Help
CFTR (7q31.2)
Molecular Genetics - Targeted variant analysis: PCR reaction, SAP addition, and iPLEX HS® extension reaction
Not provided
Not provided
Establish or confirm diagnosis; Predictive risk information for patient and/or family members; Reproductive decision-making
Ordering Information
Offered by: Help
Molecular Genetics Laboratory
View lab's website
View lab's test page
Test short name: Help
CFTR
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Licensed Physician
  • Nurse Practitioner
Test Order Code: Help
Cystic Fibrosis (CFTR)
Lab contact: Help
Gavin Giles, MSc, Administrator
gavin.giles@lhsc.on.ca
+1-519-685-8500 x36339
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
Please complete the requisition found on the web site and ensure it is signed by the referring physician.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Test development: Help
Manufactured (research use only; not FDA-reviewed)
Informed consent required: Help
Decline to answer
Test strategy: Help
iPlex Pro 74 target panel provided by Agena
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Conditions Help
Total conditions: 2
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
PCR reaction, SAP addition, and iPLEX HS® extension reaction
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Risk Assessment
Clinical utility: Help
Establish or confirm diagnosis
View citations (2)
  • Savant A, Lyman B, Bojanowski C, Upadia J. Cystic Fibrosis. 2001 Mar 26 [updated 2023 Mar 09]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. PMID: 20301428.
  • https://www.ncbi.nlm.nih.gov/books/NBK1250

Predictive risk information for patient and/or family members
View citations (2)
  • Savant A, Lyman B, Bojanowski C, Upadia J. Cystic Fibrosis. 2001 Mar 26 [updated 2023 Mar 09]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. PMID: 20301428.
  • https://www.ncbi.nlm.nih.gov/books/NBK1250

Reproductive decision-making
View citations (2)
  • Savant A, Lyman B, Bojanowski C, Upadia J. Cystic Fibrosis. 2001 Mar 26 [updated 2023 Mar 09]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. PMID: 20301428.
  • https://www.ncbi.nlm.nih.gov/books/NBK1250

Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Assay is restricted to known disease related variants.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Technical Information
Test Procedure: Help
A total of 7 recurrent CFTR targets, including those recommended by the ACMG, along with the polymorphic poly-pyrimidine intron8/exon9 splice-acceptor site are screened using Agena iPLEX Pro CFTR Panel kit followed by SpectroCHIP® Array detection using the MassARRAY System (Agena).
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The Agena Mass Array platform in combination with the iPlex Pro chemistry exhibits a limit of detection of 5% - 10% and a quantitative range of 5% - 100%
Assay limitations: Help
Assay predicted to detect 91.3% of mutations in the caucasian population
View citations (1)
  • Data collected from the following references: Watson et al. (2004) Genet Med 6(5):387-91.; Richards et al. (2002) Genet Med 4(5):379-391.; Bobadilla et al. (2002) Human Mutat 19:575-606.; Heim et al. (2001) Genet Med 3:168-76.; Sugarman et al. (2004) Genet Med 6:392-99.; Organ et al. (2001) Genet Testing 5:47-52.; Wong et al. (2001) Human Mutat 18:296-307.; Alder et al. Human Mutat 2004 MIB #752; Shriver et al. (2005) JMD 7:289-99
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:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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