Clinical Genetic Test
offered by
GTR Test Accession:
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GTR000508002.8
CAP
Last updated in GTR: 2024-06-28
View version history
GTR000508002.8, last updated: 2024-06-28
GTR000508002.7, last updated: 2023-06-26
GTR000508002.6, last updated: 2022-07-12
GTR000508002.5, last updated: 2021-07-13
GTR000508002.4, last updated: 2019-07-26
GTR000508002.3, last updated: 2019-07-10
GTR000508002.2, last updated: 2018-07-25
GTR000508002.1, last updated: 2016-08-10
Last annual review date for the lab: 2024-06-28
LinkOut
At a Glance
Test purpose:
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Diagnosis;
Screening
Conditions (1):
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Cystic fibrosis
Genes (1):
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CFTR (7q31.2)
Methods (1):
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Molecular Genetics - Targeted variant analysis: Oligonucleotide Ligation Assay (OLA)
Target population: Help
General screen for carrier status and assessment of CF risk. …
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Specimen Source:
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- Amniocytes
- Amniotic fluid
- Cell culture
- Chorionic villi
- Cord blood
- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Health Care Provider
- Licensed Physician
Test Order Code:
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10458 (32 MUTATIONS), 92068 (161 MUTATIONS); fetal specimens use
View other test codes
View other test codes
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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https://testdirectory.questdiagnostics.com/test/home
Fetal specimens require documentation of known family mutations; please call GeneINFO at 866.436.3463 to discuss fetal cases with a genetic counselor.
Order URL
Fetal specimens require documentation of known family mutations; please call GeneINFO at 866.436.3463 to discuss fetal cases with a genetic counselor.
Order URL
Informed consent required:
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Based on applicable state law
Test strategy:
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https://testdirectory.questdiagnostics.com/test/home
Pre-test genetic counseling required:
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No
Post-test genetic counseling required:
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No
Recommended fields not provided:
Lab contact for this test,
Test development
Conditions
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Total conditions: 1
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: 1
Method Category
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Test method
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Instrument *
Targeted variant analysis
Oligonucleotide Ligation Assay (OLA)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Screening
Target population:
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General screen for carrier status and assessment of CF risk. This test will identify approximately 90% of Cystic Fibrosis (CF) mutations in the Caucasian population, and 97% in the Ashkenazi Jewish population.
Recommended fields not provided:
Clinical validity,
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
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Analytical sensitivity and specificity = 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,
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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Not provided
Additional Information
Suggested reading:
Clinical 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.