Recessively inherited diseases are a group of rare genetic disorders that occur only when an individual has two mutated copies of the disease-related gene.
Although these diseases are rare on an individual basis, in society as a whole they account for 20% of infant mortality and approximately 18% of paediatric hospital admissions.
Carriers of a recessive disease mutation are generally healthy and so it is possible for any one of us to be carriers of mutations related to recessive diseases, which in many cases, may be severe. This possibility of carrying a recessive disease mutation still exists, even if there is no previous family history of a recessive disease (2–3% of cases in healthy couples). In the event that both members of a couple are carriers for a gene mutation related to a recessive disease, they would have a 25% chance of having a child affected by the disease, even if they themselves did not suffer from the disorder.
Step-by-Step
How does it work?
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Get in touch with us or your doctor.
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We carry out genetic counselling and get your informed consent for the test.
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Blood is drawn at one of our centers.
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Our team will contact you or your doctor to discuss the results.
Who is it for?
When is it recommended?
This test is designed to minimize the risk of having a child with this type of disease and follows the criteria defined by the main scientific societies, namely, the Spanish Fertility Society, European Society of Human Genetics, American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Quality Foundation, and Society for Maternal-Fetal Medicine.
This test is for:
Couples who want to be parents.
Recipients of donor gametes.
We can use this test to minimize the risk of patients having children affected by any of these diseases.
Secure Match studies the genes that cause the most serious recessive diseases and that have the highest frequency of known carriers and with childhood onset. There are two gene screening panels:
Basic PanelThis screens 15 recessive disease genes and 23 X-linked inheritance genes in the case of female patients. This test provides us with a good basis to maximize patient health in terms of morbidity.
Expanded PanelThis screening study is focused on couples who want to have as much genetic information available as possible before having children. In this case, the test analyses 552 genes, of which 91 are linked to the X chromosome.
Secure Match
Benefits
Secure Match
Results
The results of Secure Match testing will reveal whether the patient carries any genetic variants related to one of the studied diseases.
If both members of the couple are carriers of a pathogenic variant in the same gene, a preconception study to avoid the risk of transmitting the disease they both carry can be considered.
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