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Cystic Fibrosis (CF): CFTR (Full Gene Sequencing) With Reflex to Deletion/Duplication Analysis
Confirm a clinical diagnosis of CF and predict risk of CF in blood relatives. Deletion/duplication analysis using MLPA should be applied following CFTR sequencing analysis in cases in which no mutations have been identified.
The MLPA platform detects full CFTR gene deletions and most multiple- and single-exon deletions and duplications but not balanced translocations or rearrangements that do not alter the copy number of the probe target sequences.
DNA sequencing; multiplex ligation-dependent probe amplification (MLPA) if deletion/duplication analysis is performed
Cystic fibrosis (CF) is a relatively common, recessively inherited multisystem disease, affecting the respiratory, digestive, and male reproductive systems. Disease severity can range from recurrent sinusitis and bronchitis with onset in young adulthood (nonclassic CF) or, in males, from infertility without any pulmonary manifestations (congenital absence of the vas deferens) to severe lung, pancreatic, and liver disease with onset in infancy or childhood (classic CF). Genetic testing can confirm a diagnosis based on sweat testing, transepithelial nasal potential difference, or immunoreactive trypsinogen assay and identify the exact CFTR mutations underlying disease in the individual patient. Genetic testing for presence of these familial mutations can then identify disease carriers in the patient's blood relatives, allowing reproductive counseling. In males with CAVD or individuals with nonclassic CF, analysis of the 5T/TG tract, which is known to modify severity of certain "mild" CFTR mutations, can help to predict the risk of CF in blood relatives.
Causes for Rejection
|Order Code||Order Code Name||Order Loinc||Result Code||Result Code Name||UofM||Result LOINC|
|253095||CFTR Sequencing Rfx Del/Dup||252261||Routing||38404-0|
|253095||CFTR Sequencing Rfx Del/Dup||252227||Reflex||N/A|
|Reflex Table for Reflex|
|Order Code||Order Name||Result Code||Result Name||UofM||Result LOINC|
|Reflex 1||252900||CFTR Deletion/Duplication||252901||CFTR Deletion/Duplication||69480-2|