Cystic fibrosis is one of the most common hereditary diseases. It is caused by mutations in the CFTR gene on chromosome 7. The CFTR gene is responsible for producing proteins that regulate the transport of chloride and sodium across cell membranes. Multiple mutations in the CFTR gene can lead to the development of this disease. Depending on the form of the mutation, the clinical picture may be more severe and the disorder may manifest earlier, or the course of the disease may be milder and occur later.
Qualified Initiative® diagnoses the DF508 mutation which is associated with progressive lung disease and pancreatic insufficiency, first symptoms occur very early and it is the cause of cystic fibrosis in over 80% of cases.
Cystic fibrosis affects 1 out of every 2,500 to 3,500 newborns. It is estimated that 1 in 25-30 people carries the gene for the cystic fibrosis.
Spinal muscular atrophy (SMA) is a severe, life-threatening disease that leads to permanent disability or early death. Despite being a rare disease, if left untreated, SMA is the world's leading genetic killer of newborns. The most severe clinical form of SMA is manifested in the first months of life with serious disorders of the child’s motor functions.
In SMA there is a loss of nerve cells (motoneurons), which enable muscle movements. Once lost, motor neurons cannot be regenerated. The disease leads to progressive muscular atrophy, loss of function, paralysis and death. Carriers of the recessive genes are perfectly healthy and do not know they have it. One in 40-60 people carries the gene for SMA.
One in 10,000 newborns is born with SMA. Therapy is hard to come by, and the effects increase with time. The disease is manifested when a child inherits the SMN gene from both parents.
The Qualified Initiative® diagnoses any changes that may lead to a disease and eliminates the possibility that a prospective parent can pass the SMN gene on to its offspring.
The Qualified Initiative® is performed by laboratory drawing of a small amount of venous blood. Results from the genetic laboratory are available after 3 weeks. Testing one parent (if they are negative) eliminates the possibility of the child developing the disease.
By not testing the other parent, there is a possibility that the child will be a carrier but without the appearance of symptoms of SMA and almost certainly without the appearance of severe forms of CF.
The price of the Initiative® test is €99, if it is done in a package with any Qualified® prenatal test. If done on its own, the price is €299.
For more information on where and how to take the Initiative® and/or Qualified® test, you can contact us on the phones listed below or the emergency phone number 069 BIOSAVE (069 246 7283) or via email info@biosave.rs.
