Avoiding genetic diseases is in your hands

Thinking about getting pregnant and want to make sure that neither you nor your partner are carriers of a genetic disease? Get peace of mind with the new carrier test (qCarrier of qGenomics).

10 OUT OF EVERY 1,000 CHILDREN ARE BORN WITH A GENETIC DISEASE

Genetic carrier screening (qCarrier) - Carriers

There is a 25% probability that the children have the disease if both parents are carriers.

10 OUT OF EVERY 1,000 CHILDREN ARE BORN WITH A GENETIC DISEASE

Genetic carrier screening (qCarrier) - Carriers

There is a 25% probability that the children have the disease if both parents are carriers.

What is it

A test performed in prospective parents to identify the presence of genes causing up to 200 diseases, including cystic fibrosis, spinal muscular atrophy, thalassemia, neonatal diabetes or Fragile X syndrome. These are all diseases that parents can pass on to their offspring and which can cause serious health problems in children.

We take a blood sample from the parents and analyse their DNA. If they are carriers of a genetic disorder, we can find out the probability of their passing on a genetic disease to their future child, allowing them to adapt their reproductive plans.

Results

The results are usually available two weeks after conducting the analysis on the blood sample.

If the test indicates a high risk of having an affected child, the available options are:

  1. Pregnancy (spontaneous or with an assisted reproduction technique) and prenatal diagnosis during the early weeks of pregnancy to find out whether the child is affected.
  2. In vitro fertilisation with preimplantation genetic diagnosis.
  3. Assisted reproduction with donor sperm or eggs (from a person who is not a carrier of the disease).
  4. Not take any action and assume the risk that the child may be born with a genetic disease.

Genetic carrier screening (qCarrier) - Results


Who is it for

60% of people have genetic alterations and a carrier detection test is often the only way to find out whether these alterations could result in a disease being passed on to their children.

Therefore, we recommend that you and your partner have this test:

  • Before pregnancy: professional doctors’ organisations recommend this test to reduce the risk of passing on possible diseases to the child.
  • In reproductive treatments: we offer prospective parents the possibility of performing the test to find out the possible risk of transmission of genetic diseases and decide on the treatment that best suits their needs.
  • With in vitro fertilisation with donated eggs, our protocol is to perform this carrier test on all egg donors, so it is essential that the partner of the recipient also has the test to check that neither are carriers of the same mutation.
Genetic carrier screening (qCarrier) - Who is it for

Why choose us

Genetic carrier screening (qCarrier) - Unit specialised in preconceptional genetic counselling

We are the first clinic in Spain with a unit specialised in preconceptional genetic counselling to detect if prospective parents are carriers of any gene mutations that cause recessive diseases.

Genetic carrier screening (qCarrier) - Team of geneticists

Our dedicated team of geneticists provides counselling in pregnancies that require more comprehensive genetic follow-up.

Genetic carrier screening (qCarrier) - Best advice depending on your test results

Our team of geneticists will give you all the information you need about genetic diseases as well as the best advice depending on your test results.

Genetic carrier screening (qCarrier) - Expert Committee

Our Expert Committee meets weekly to assess each case individually and establish appropriate treatment guidelines.

Genetic carrier screening (qCarrier) - Forefront of technology in genomic medicine

We are at the forefront of technology in genomic medicine, and we are one of the first private gynaecological centres in incorporating a Unit of Medical Genetics.



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