Genvinset® deltaF508 is a semi‑automated in vitro diagnostic kit for the qualitative detection of wild‑type and/or F508del alleles of the CFTR gene, associated with cystic fibrosis. The assay is performed on genomic DNA extracted from whole blood using real‑time PCR with TaqMan® probes.
Detailed description
Key features
Genvinset® deltaF508 is designed for the molecular determination of the F508del mutation, also known as ΔF508, in the CFTR gene. This mutation is associated with cystic fibrosis, an autosomal recessive genetic disease that affects various organs and is related to alterations in water and ion transport across the epithelium.
Principle of operation
The assay is based on real‑time PCR with TaqMan® probes. For each sample, a pair of CFTR gene‑specific primers and two allele‑specific hydrolysis probes are used:
Interpretation is performed using the FAM and HEX/VIC channels:
Clinical applications
This kit is used as an auxiliary tool for the molecular diagnosis of patients with suspected cystic fibrosis. It is intended for patients referred by a healthcare specialist, taking into account compatible symptoms such as pulmonary infections or pneumonia, wheezing, cough with thick mucus, digestive disorders, difficulty gaining weight or growing, very salty sweat and/or a family history of cystic fibrosis.
It can also be used in neonatal patients for the molecular confirmation of cystic fibrosis after observing deviations in biochemical newborn screening, especially in the presence of abnormal immunoreactive trypsinogen values.
Assay results should not be used as the sole criterion for therapeutic decision‑making, but rather as diagnostic support together with other disease markers and the patient’s clinical information.
Benefits
Considerations or limitations
The product must be used strictly in accordance with the instructions for use. It should not be used if contamination, deterioration, loss of reactivity is suspected, or if the kit has exceeded its expiration date. Genotyping results and their interpretation must be reviewed by qualified personnel.
