Molecular Genetic Testing
Cystic Fibrosis (Mucoviscidosis)


Indication and Diagnostic Value

Approximately 1:15 live births carry a mutation in the so-called Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR gene). Mutations in this gene are responsible for Cystic Fibrosis. In order to develop the disease both alleles, inherited from mother and father, must carry a mutation (Homozygous carriers). If both parents carry a mutation the likelihood for their child to have mucoviscidosis is 25%. Typical symptoms include frequent severe airway infections during early childhood, diarrhea, underweight and intestinal closure in newborns. Because of similar symptoms mucoviscidosis can be misinterpreted as asthma, bronchitis or pertussis. Once a positive sweat test has been obtained, the genetic test is the only method to unambiguously prove for mucoviscidosis.

Samples and Test Method

IMMD blood stain test paper is required. The test detects the 32 most common CFTR – gene mutations. This means, that about 85% of all possible mutations are being analyzed. The test is based on a combination of multiplex PCR and Oligo Ligation Assay (OLA). The specificity of this procedure reaches almost 100%.

Turnaround time for this test is 2 weeks.

→ list of Molecular Genetic Tests offered by IMMD


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