GTR Test Accession:
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GTR000074114.7
CAP
Last updated in GTR:
2024-02-07
View version history
GTR000074114.7,
last updated:
2024-02-07
GTR000074114.6,
last updated:
2023-02-08
GTR000074114.5,
last updated:
2019-01-23
GTR000074114.4,
last updated:
2018-01-25
GTR000074114.3,
last updated:
2016-02-17
GTR000074114.2,
last updated:
2015-03-03
GTR000074114.1,
registered in GTR:
2013-05-03
Last annual review date for the lab: 2024-02-07
LinkOut
At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation;
Pre-symptomatic; ...
Conditions (2):
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Cystic fibrosis;
Congenital bilateral aplasia of vas deferens from CFTR mutation
Genes (1):
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CFTR (7q31.2)
Methods (1):
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Molecular Genetics - Targeted variant analysis: PCR reaction, SAP addition, and iPLEX HS® extension reaction
Target population: Help
Not provided
Clinical validity:
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Not provided
Clinical utility:
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Establish or confirm diagnosis;
Predictive risk information for patient and/or family members;
Reproductive decision-making
Ordering Information
Offered by:
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Test short name:
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CFTR
Specimen Source:
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- Amniotic fluid
- Cell culture
- Chorionic villi
- Isolated DNA
- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Licensed Physician
- Nurse Practitioner
Test Order Code:
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Cystic Fibrosis (CFTR)
LOINC codes:
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Lab contact:
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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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Please complete the requisition found on the web site and ensure it is signed by the referring physician.
Order URL
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Confirmation of research findings
Test additional service:
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Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Custom mutation-specific/Carrier testing
Test development:
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Manufactured (research use only; not FDA-reviewed)
Informed consent required:
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Decline to answer
Test strategy:
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iPlex Pro 74 target panel provided by Agena
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Conditions
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Total conditions: 2
| 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 reaction, SAP addition, and iPLEX HS® extension reaction
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation;
Pre-symptomatic;
Risk Assessment
Clinical utility:
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Establish or confirm diagnosis
Predictive risk information for patient and/or family members
Reproductive decision-making
View citations (2)
- Savant A, Lyman B, Bojanowski C, Upadia J. Cystic Fibrosis. 2001 Mar 26 [updated 2024 Aug 08]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, 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 2024 Aug 08]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, 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 2024 Aug 08]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, 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?
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Assay is restricted to known disease related variants.
Assay is restricted to known disease related variants.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Not provided.
Not provided.
Recommended fields not provided:
Clinical validity,
Target population,
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 Procedure:
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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:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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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:
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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?
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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,
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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Not provided
Additional Information
Suggested reading:
Clinical resources:
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Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.