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What is Genetic Diagnosis?

Genetic diagnosis provides information about the genetic basis of inherited diseases and the information that can be obtained is very important for decision making in several aspects. Consult our Tests List.

1) Treatment: The result of a genetic test can determine the most effective treatment against the disease.
2) Evolution and Prognosis: the disease may have different severity and evolution depending on the causative mutation. Genetic diagnosis can anticipate and prevent the expression of disease.
3) Mode of inheritance: a genetic alteration can be transmitted in a recessive, dominant or X-linked mode. This point allows to estimate the probability of transmission to the offspring and its manifestation.

4) Prevent transmission: the genetic diagnosis allows to avoid transmission to the offspring, by means of prenatal or preimplantational diagnostics techniques.

5) Familial study: the implications of genetic testing are also important for all family members. It is advisable to consider the convenience of extending it to other family members. It is possible that a genetic alteration manifested in a second-, third-or fourth grade can be manifested too in other branches of the family.

What is Genetic counseling?

Genetic counseling is a customized report containing advice to individuals and families about their genetic disease, the risk of being affected or carrier and the probability of transmitting it.

The report assessed the results of a genetic test, the patient's medical history and family data.

What is Prenatal and Preimplantation Genetic Diagnosis?

Prenatal Genetic Diagnosis is the use of genetic techniques to detect hereditary diseases in the fetus.

It is performed from samples of amniotic fluid or chorionic villus (placental tissue).

The purpose of Prenatal Genetic Diagnosis is to obtain important information to take the most advisable measures in order to avoid the transmission of the disease.

Preimplantation Genetic Diagnosis is a combination of assisted reproduction techniques and molecular diagnostic techniques.

Preimplantation Genetic Diagnosis allows to select healthy embryos obtained from carriers of genetic disorders.

Specifications of our studies

• Personalized study of each case

• Delivery of clinical report according to gestational age

• Verification of the alterations detected in duplicated

• Verification using poblational controls

• Verification of maternal tissue contamination

Test list