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Frequently asked questions
Which are the different types of genetic analysis?
- Diagnostic analysis: performed in symptomatic patients to confirm or exclude a genetic disease
- Predictive or pre-symptomatic analysis: performed in asymptomatic people to know the risk of developing late-onset diseases.
- Predisposition analysis: carried out in asymptomatic persons (and exceptionally in symptomatic persons) they detect markers of risk for developing multifactorial diseases.
- Pharmacogenetics analysis: performed in patients who are going to undergo pharmacological treatments to determine their effectiveness and avoid adverse responses and side-effects.
- Carrier analysis: conducted in asymptomatic people, they can detect mutations that generally won’t have consequences in their health, but they can have them in their offspring.
They study genes with:
- inheritance linked to the X,
- autosomal dominant inheritance: pre-mutations
- autosomal recessive inheritance
- chromosomal translocations
- Prenatal analysis: performed during pregnancy to detect a mutation, an associated haplotype or a chromosomal change in pregnancies that involve a risk of presenting a genetic disease
- Preimplantation genetic diagnostic analysis: they study the presence of a mutation, an associated haplotype or a chromosomal change in cells of embryos 'in vitro' of couples at risk of transmitting a genetic disease
- Screening analysis: it is any of the previous analyses carried out in asymptomatic people of the general population to identify genetic diseases or anomalies in an early stage, in order to apply genetic counseling.
Who is in charge of taken the samples and how is it done?
For the screenings for which the swab sample is required, medmesafe will send the patient a kit to the mailing address detailed in the package. The sample will be taken by the patient itself, gently rubbing the inside part of his/her cheek. The patient must notify the courier service for collection and transfer to the laboratory for analysis. Courier costs are covered both for the delivery of the kit as well as for its collection.
For the analyses for which a blood sample is required, the patient must go to one of the blood collection centers where we can schedule an appointment. It is not necessary that the extraction would be done with an empty stomach and it can be at any time of the day.
In compliance with the requirements of REGULATION (EU) 2016 / 679 OF THE EUROPEAN PARLIAMENT AND OF THE COUNCIL of 27 april 2016 on the protection of individuals with regard to the processing of personal data and the free movement of such data and repealing directive 95 / 46 / ec (general regulation of data protection), you are informed that ...