CYSTIC FIBROSIS – NEOSCREEN TESTING GENETIC SCREENING
WHAT IS
Cystic fibrosis is the second most common serious hereditary disease to newborns.
BASIC APPEARANCES – INDICATIONS – IMPORTANCE
The disease in most cases can be expressed if the same gene mutations are combined by both parents.
Reports show that 1 in 25 people are carriers of a cystic fibrosis mutation in the European population. In the absence of relevant prenatal screening, 1 in 2,000 to 3,000 newborns is expected to suffer from this serious disease.
For Greece, it is estimated that the mutations carriers are 500,000 prople, classifying for most doctors the genome examination at prenatal level, necessary.
Its effects on the child born with the disease are severe in the functioning of the lungs, the pancreas, the liver and the intestine. Despite the recent developments in medical treatment of the disease, the average life of people with cystic fibrosis is significantly reduced (in a Canadian survey estimated <50 years )
GENE SCREENING
Gene Screening tests for cystic fibrosis gene are offered inf four levels:
1) F508del Mutation
This mutation is the most common based on literature, responsible for about 50% of cases of the disease.
2) Gene panel for 89% CFTR cases
It is the most commonly sought mutation detection test kit and is made by analysis of 186 independent alleles of the CFTR cystic fibrosis gene.
It is reported bibliographically, that in the general population of cases of the disease, the coverage rate with this particular panel is 89%.
3) Pannel CF 99.6%
It is the most modern analysis of genes for cystic fibrosis with analysis of 1700 independent alleles of the CFTR cystic fibrosis gene.
It is reported bibliographically, that in the general population of cases of the disease, the coverage rate with this particular panel is 99.6%.
Important
It is always important to consult a qualified health professional before doing any genetic testing to make sure you fully understand the conditions being tested and the explanation of the results
————————————
Information selected from :
- MayoClinic.org
- Labtestsonline.org
- Noscreen laboaratories
The exact choice of tests required, is under the responsibility of your treating physician
Editor: I. Gratsias Lab Director / Clinical Biochemist
Last Update May 2019
INFORMATION ON LABORATORY CONTROL
PREPARATION
Laboratory testing requires simple blood sampling. No preparation or diet is required, and the blood can be taken at any time of the day
Blood sampling can take place at any time of the day (laboratory hours from 7.30am to 7.00pm).
Samples (2x 2.5 ml EDTA tubes) can also be delivered worldwide, with special packages
TIME OF DELIVERY OF RESULTS
The results are given
- ΔF 508 del mutation: 10 working days.
- CFTR 89%: 15 business days
- CFTR 99.6%: 20 business days.
CHARGES
Private costs for packages are:
- ΔF 508 del mutation: 45 euros.
- CFTR 89%: 150 euros.
- CFTR 99.6%: from the initial price of 300 euros at a bid price to 230 euros
