Cystic Fibrosis (CFTR) Gene Panel – Deletion/Duplication Analysis
Test Name: Cystic Fibrosis (CFTR) Gene Panel – Deletion/Duplication Analysis
Purpose:
This genetic test detects large deletions and duplications in the CFTR gene, which can cause cystic fibrosis (CF) or related CFTR-associated disorders. It complements sequence-based CFTR testing when a genetic cause is suspected.
Why is this test performed?
- To investigate a suspected diagnosis of cystic fibrosis.
- To identify CFTR gene deletions or duplications that may not be detected by routine sequencing.
- For individuals with suggestive clinical features and inconclusive previous CFTR testing.
- To support genetic counselling and family-risk assessment.
- In selected cases, to investigate individuals with a family history of cystic fibrosis.
Sample:
Peripheral blood / EDTA whole blood
Method:
Molecular genetic analysis for copy-number changes (deletions and duplications) in the CFTR gene.
What does the test detect?
- Exon-level or larger CFTR gene deletions
- Exon-level or larger CFTR gene duplications
- Other detectable copy-number abnormalities, depending on the assay used
Result Interpretation:
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No deletion/duplication detected: No reportable CFTR copy-number alteration was identified. This does not completely exclude cystic fibrosis or another CFTR-related disorder.
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Deletion/duplication detected: A clinically relevant CFTR copy-number variant may have been identified. Interpretation should consider clinical findings and other CFTR variants.
- Genetic counselling may be recommended for significant findings.
Important Note:
Deletion/duplication analysis may not detect all types of CFTR variants. Sequence variants, deep intronic variants, regulatory changes, or other alterations may require additional testing. Results should be interpreted alongside clinical findings and, where appropriate, other CFTR molecular testing.
Clinical Significance:
The CFTR gene encodes a chloride channel involved in salt and fluid transport across epithelial cells. Pathogenic CFTR variants can impair this function and are associated with cystic fibrosis and CFTR-related disorders.
