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Individual Genes (Prenatal)

At LabGenetics, we offer the study of more than 2,500 genes through Sanger sequencing; for this purpose, we use oligonucleotides designed and validated at LabGenetics. This study is indicated in pregnancies in which:

  • There is a suspicion, based on biochemical or ultrasound markers, of the presence of a genetic disorder in the fetus.
  • There is a family history of a hereditary genetic disease, but no genetic information about the familial condition is available.

To perform these prenatal genetic diagnostic studies of hereditary diseases, in addition to sending the fetal sample (chorionic villi or amniotic fluid), it is recommended to carry out a cell culture of the fetal sample in case the amount of DNA initially obtained is insufficient to complete the prenatal genetic study. This is especially important in cases where the genes are large or in diseases associated with multiple genes.

Likewise, it is essential to send a peripheral blood sample from the pregnant mother to rule out possible maternal contamination in the fetal sample through the analysis of microsatellite markers (STRs). This test also allows for the determination of fetal sex, which is crucial for diseases linked to the X chromosome.

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LabGenetics offers a comprehensive genetic diagnostic service, personalized, flexible to the requirements of health professionals, and continuously introduces new genetic diagnostics of hereditary and rare diseases in its portfolio of services. Our goal is to establish close collaborations that allow us to obtain accurate and appropriate results for each case, as quickly and economically as possible.