Classic view of this page
CFTR sequence of selected exons
Clinical Genetic Test
Help
offered by
Genetics Service Unit
GTR Test Accession: Help GTR000600524.1
INHERITED DISEASERESPIRATORY DISEASE
Registered in GTR: 2022-10-26
View version history
Last annual review date for the lab: 2023-10-30 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Cystic fibrosis
Genes (1): Help
CFTR (7q31.2)
Methods (1): Help
Molecular Genetics - Mutation scanning of select exons: Uni-directional Sanger sequencing
Target population: Help
Cystic Fibrosis suspected patients heterozygous for delta F508 mutation in …
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Genetics Service Unit
View lab's website
Test short name: Help
CFTR seq
Manufacturer's name: Help
NA
Specimen Source: Help
Who can order: Help
  • Licensed Physician
Lab contact: Help
Paramita Bhattacharya, Staff
paramita_b2k@yahoo.co.in
+91-8961882229
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
2-3 ml blood should be collected in a tube containing EDTA. The tube should be labelled (patient's name, referring Government hospital registration number and date of collection). The EDTA tube should be sent (within 4 hours of blood collection) at room temperature or should be stored at 4◦ C (refrigerator …
View more
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test Order Code, Test strategy, Test development
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
Uni-directional Sanger sequencing
Applied Biosystems 3500 Genetic Analyzer
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
Cystic Fibrosis suspected patients heterozygous for delta F508 mutation in CFTR gene and/or with positive sweat chloride test.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
As per ACMG 2015 criteria.

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. The ordering physician is re contacted by phone/ email.
Sample reports:
Sample Negative Report Help
Revised report requested by NCBI

Sample Positive Report Help
Sample Positive Report

Sample VUS Report Help
Sample VUS Report
Recommended fields not provided:
Clinical validity, Clinical utility, Is research allowed on the sample after clinical testing is complete?
Technical Information
Test Procedure: Help
DNA Isolation followed by PCR amplification of target regions, Sanger Sequencing, capillary electrophoresis, data analysis and interpretation.
Test Platform:
None/not applicable
Test Comments: Help
Sequencing of CFTR exons 2, 4, 8, 14 and 18.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
99% Sensitive
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
VUS:
Software used to interpret novel variations Help
Varsome API (https://varsome.com/)

Laboratory's policy on reporting novel variations Help
While reporting novel variants usually the referring clinician is first contacted by phone/ email to confirm clinical correlation and if necessary additional family members are tested to find the segregation pattern in the family.
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
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.