Genetic compatibility

What is the genetic compatibility test?

The genetic compatibility test is a genetic study performed on prospective parents in order to minimize the possibility of transmitting a hereditary disease.

It is conducted using a state-of-the-art technology, based on exome sequencing (NGS) and the analysis of more than 500 genes related to recessive diseases.

What is a genetic disease of recessive inheritance?

More than 7000 genetically based diseases are known. Many of these diseases are due to recessive mutations in the DNA, which only appear if the two copies (alleles) of a gene are affected. 

We are all carriers of hundreds of recessive mutations without knowing it. Usually, they are transmitted through several generations of a family without manifesting. Unexpectedly, some couples have children with a genetic disease. This may be because both parents are healthy carriers of a recessive mutation in a single allele, while the child inherits both affected alleles, one from each parent. 

When is it recommended to take the test?

The genetic compatibility test should be performed routinely to all couples who wish to have children. It would help to prevent the unexpected manifestation of genetic diseases. Probably in the future this kind of test will be included in the catalogue of services of the public health system. However, it is currently an exceptional test, technically within reach of few laboratories and economically expensive. 

It is recommended to perform this test to any couple who wish to have children, even if there is no one affected in their family. Additionally, this test is particularly recommended in the following cases:

- Fertility problems 
- Repeated miscarriages 
- Relatives affected by a genetic disease 
- Eggs or sperm donor

What is the test about?

The Genetic Compatibility Test allows to detect in the prospective parents the presence of mutations in genes of recessive inheritance that could be transmitted to their children. The test analyses more than 500 genes related to more than 800 diseases.   

Most of the available tests analyse frequent mutations, but not whole genes. Our study allows to analyse and compare whole genes of both parents by comparing their exomes, which allows the detection of rare mutations or even of mutations not described before (exclusive of a single family). In order to do the test a blood sample is necessary, and in a few weeks you will have the results.

Which are the limitations of the genetic compatibility test?

No test can guarantee that the future child will not inherit a genetic disease. Our test has great benefits, but it also has limitations that you should know. 

We recommend you to contact us to know the scope of this test and the information that it provides. 

What kind of results can I obtain?

The genetic compatibility test can give negative, positive and, in some cases, doubtful results. In case of a negative result, it indicates that no genetic incompatibility has been found that could lead to a recessive inheritance disease. It must be known that this does not completely rule out this possibility, but it minimizes the likelihood that it will happen.   

In case of a positive result, it could be necessary to resort to the Preimplantation Genetic Diagnosis. This consists in the combination of assisted reproduction techniques together with molecular diagnostic techniques. The preimplantation diagnosis allows to select healthy embryos obtaeined from people carrying genetic alterations.     

Doubtful results must be carefully evaluated to consider all the possibilities and make the best decision.