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Cystic Fibrosis Diagnostic Mutation
Clinical Genetic Test
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offered by
Michigan Medical Genetics Laboratories
View lab's test page
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GTR Test Accession: Help GTR000507010.3
CAP
INHERITED DISEASERESPIRATORY DISEASE
Last updated in GTR: 2024-07-05
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Last annual review date for the lab: 2024-07-08 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment; ...
Conditions (1): Help
Cystic fibrosis
Genes (1): Help
CFTR (7q31.2)
Methods (1): Help
Molecular Genetics - Mutation scanning of select exons: Oligonucleotide Ligation Assay (OLA)
Target population: Help
Patients with a diagnosis of Cystic fibrosis, CF-related disorder, Sweat …
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Michigan Medical Genetics Laboratories
View lab's website
View lab's test page
Test short name: Help
CFTR Targeted mutation panel
Manufacturer's name: Help
xTAG® Cystic Fibrosis V2 (CF60)v2.00, Luminex Molecular Diagnostics
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
CFDXL
View other test codes
Lab contact: Help
Chen Yang, PhD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Lab Director
[email protected]
734-615-2429
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
Provide appropriate sample, relevant clinical information and a completed requisition form. Contact an MLabs client service representative, 800-862-7284, for any questions. The laboratory recommends that pre- and post-test genetic counseling be offered and informed consent be obtained for this test but does not require documentation to accept and process the …
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Order URL
Test development: Help
FDA-reviewed (has FDA test name)
Informed consent required: Help
Based on applicable state law
Test strategy: Help
https://www.pathology.med.umich.edu/handbook/#/details/972
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
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
Mutation scanning of select exons
Oligonucleotide Ligation Assay (OLA)
Luminex 200
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment; Screening
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)

Target population: Help
Patients with a diagnosis of Cystic fibrosis, CF-related disorder, Sweat chloride elevation without CF, idiopathic Pancreatitis, Bronchiectasis with or without elevated sweat chloride, neonatal Hypertrypsinemia.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Follow ACMG guidelines, suggest family study

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
No.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. by Phone or secure email
Recommended fields not provided:
Clinical validity, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
Multiplex PCR
Test Confirmation: Help
Using new aliquot/sample
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical Sensitivity 95% Accuracy 100% Precision 100%
Assay limitations: Help
Targeted screening for 60 variant in the CFTR gene ONLY. Does not detect any other mutations in the CFTR gene. Does not detect large deletions, duplications and rearrangements in the CFTR gene region.
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

CAP Testing Information Help
CAP/ACMG Molecular Genetics Series; Cystic fibrosis (CFTR gene); MGL2
VUS:
Software used to interpret novel variations Help
REVEL, BayesDel_noAF, SpliceAI, Varsome, varSEAK

Laboratory's policy on reporting novel variations Help
Contact ordering physician by phone and by routine report; recommend clinical genetics follow up and/or genetic counseling and parental testing
Recommended fields not provided:
Citations to support assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. 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.