Cystic Fibrosis Test
What is cystic fibrosis?
Cystic fibrosis is the most common hereditary disease in Caucasian population. Every year, about 1 in 2000-2500 children in Greece are born with cystic fibrosis, and 4-5% of the population is considered to be carriers.
Symptoms first appear within the first year of life, but can also occur later in childhood. The severity of symptoms varies. Respiratory system symptoms are persistent cough, wheezing, dyspnea and recurrent chest infections that cause lung damage. Gastrointestinal symptoms are malnutrition, resulting in poor physical development and a low weight increase (even if the patient has appetite and eating too, since the problem is detected in digestion and absorption of food), swollen abdomen and constipation . Further symptoms are recurrent infections of the sinuses, polyps formed in nose, liver damage that can lead to cirrhosis, diabetes, pancreatitis (inflammation of the pancreas), rectal prolapse, osteoporosis that appears due to poor absorption of certain foods (in particular of vitamin D, essential for maintaining healthy bone), and a very salty taste of sweat.
Future parents during prenatal screening undergo genetic examination for cystic fibrosis. A child born from parents both carriers of cystic fibrosis has one chance in four to be also a carrier.
Cystic Fibrosis Test in Omnigen
The purpose of the test is to check the possible presence of pathogenic mutations in the CFTR gene (Cystic fibrosis transmembrane conductance regulator), which are responsible for the appearance of cystic fibrosis. The disease is inherited in an autosomal recessive manner.
1. Detection of mutations (base substitutions & deletions / duplications in a small number of bases) by direct identification (sequencing) selectively in exons 4 and 10 of the CFTR gene including intron-exon boundaries, in which 169 pathogenic mutations have been recorded according to the international “Cystic Fibrosis Mutation database”.
2. Detection of 32 mutations of the CFTR gene using Abbott company’s product “Cystic Fibrosis Genotyping Assay” (CE, IVD).
3. Detection of deletion of exons 2 and 3 (21kb deletion) of the CFTR gene by gap-PCR.
The above control allows the detection of 202 pathogenic mutations and covers 90% of pathogenic mutations reported in the international databases.