The genetic information in a human body is very compactly stored in genes. They are in charge of all our physical characteristics and of the correct functioning of the whole organism. Normally people have two sets of such genes, as we inherit them from both parents.
A small alteration in genes (a mutation) may cause malfunctions and provoke a congenital disorder. However, many people possess certain genetic alterations that are virtually harmless and do not lead to any disease. Such a person is defined as a carrier.
The Compatibility Genetic Test (CGT or Genetic Carrier Screening,) is a comprehensive analysis of genes in a couple that allows to discover any alterations or mutations. Test results are then processed by a powerful and failsafe software, exposing the coinciding and, consequently incompatible sections in the two sets of genes.
What genes are analyzed?
The CGT includes 6,600 genetic mutations leading to a total of 600 genetic disorders.
The risk of bearing a child affected by any of such disorders is significantly decreased by the test. The ratio of 1 in 100 without the CGT becomes approximately 1 in 30,000.
Who needs the test?
Couples planning natural pregnancy as a means to check the compatibility of partners and exclude the risk of carrying the same mutation.
Couples in course of assisted reproductive treatment. The goal is the same – to assure genetic compatibility of the parents.
Patients who opt for an egg or sperm donation. All donors at GENESIS are obliged to take a Compatibility Genetic Test, so we match up the most suitable sample in our database with that provided by the woman or her partner thus minimizing the risk of a genetic disorder in foetus.
How is it done?
The procedure is very simple, we need only a blood sample – and the results will be at your disposal in about 3 weeks.
Patients are at liberty to have a blood sample taken at any of our clinics or at their local medical institution if they want to avoid travelling. If the patient chooses the second option, GENESIS contacts the laboratory in question to ship the blood collection kit to the patient and bring the sample back. The patient may also choose any local laboratory to perform the procedure and send the sample to a testing facility, which will inform us of the result in due course.
What is the meaning of having the same mutation?
Any person can be an asymptomatic carrier unaffected by the mutation. Being a carrier means that a person has two sets of genes with an alteration in only one of them. The second set of genes is intact, so the organism as a whole operates correctly regardless of the mutation.
The issue arises when both partners have the same genetic alteration, so two sets of gametes with the same mutation result in a child affected by the disease. With both parents carrying the mutation the chances of negative outcome is 25% for each pregnancy (in other words, 1 in 4).
In such cases, it is possible to perform a genetic screening of the embryos (Preimplantation Genetic Testing for aneuploidy known as PGT-A), to select the unaffected ones for the transfer.