Services

Thrombophilia Screening

What is Thrombophilia?

Thrombophilia is the pathological condition of hypercoagulability of the blood circulation in humans, resulting in the development of clots in organs and vessels in order to create dysfunction in the affected organ or organ system. These cases also include coagulation pathology during pregnancy, resulting in thromboembolic events in the pregnant woman or the fetus, and even fetal loss (miscarriage).

Pregnancy itself, even under normal conditions, modifies in the female organism the naturally given balance of coagulation and anticoagulation factors in favor of an existing balance of hypercoagulability of the circulation with the ultimate aim of protecting the pregnant woman from bleeding and the complications it causes during pregnancy. placental abruption in childbirth, whenever this occurs.

Thrombophilia testing at Omnigen SA

It is done by isolating DNA and testing thrombophilic factors with the Real-Time PCR methodology (Genotyping using the TaqMan assay (2008) Current Protocols in Human Genetics, (SUPPL. 56), pp. 2.10.1-2.10.8).

Cystic fibrosis

What is cystic fibrosis?

Cystic fibrosis, or fibrocystic disease, is the most common hereditary disease in the white race. Approximately 1 in 2000-2500 children are estimated to be born each year in Greece with cystic fibrosis, while 4-5% of the population are considered to be carriers.

Symptoms first appear within the first year of life, but may also appear later in childhood. The severity of symptoms varies. Symptoms of the respiratory system are persistent coughing, wheezing, shortness of breath as well as repeated chest infections that cause damage to the lungs. Regarding the gastrointestinal symptoms, we distinguish malnutrition, which leads to little physical growth and low weight gain (even if the patient has a good appetite and eats a lot, as the problem is found in the digestion and absorption of food), swollen abdomen and constipation . Additional symptoms are recurrent sinus infections, polyps forming in the nose, liver damage that can lead to cirrhosis, diabetes, pancreatitis (inflammation of the pancreas), rectal prolapse, osteoporosis (thinning of the bones) that occurs due to poor absorption certain foods and especially vitamin D which is necessary to maintain healthy bones, and the very salty taste of sweat.

Prospective parents during prenatal screening undergo genetic testing for fibrocystic disease. The chances of a child with cystic fibrosis being born to parents who are carriers (both) are one in four.

Cystic Fibrosis Examination at Omnigen SA

The purpose of the examination is to check for the possible presence of pathogenic mutations in the CFTR gene (Cystic fibrosis transmembrane conductance regulator), which are responsible for the manifestation of cystic fibrosis. The disease is inherited in an autosomal recessive manner.

Methods:

• Detection of point mutations (base substitutions & deletions/duplications of a small number of bases) through 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 data of the international "Cystic Fibrosis Mutation database".
• Detection of 32 CFTR gene mutations with the Abbott Cystic Fibrosis Genotyping Assay (CE, IVD) product.
• Detection of the deletion of exons 2 and 3 (21kb deletion) of the CFTR gene by gap-PCR.
The above screening allows the detection of 202 pathogenic mutations and covers 90% of the pathogenic mutations recorded in international databases.