In LabGenetics we offer the study of known point mutations, indicated in those cases in which the variant previously detected in a family member is known, or in the case of suspicion of certain genetic diseases in which there are prevalent mutations globally or in a particular population.
For this purpose we have oligonucleotides designed and validated in LabGenetics.
This study can also be performed in prenatal samples, in those pregnancies in which one of the parents (or both) are asymptomatic carriers of a known mutation in diseases with recessive inheritance, or one of the parents is diagnosed at the genetic level of a disease with dominant inheritance, or one of the couple’s previous children is affected and genetically diagnosed with an inherited disease, or if there is a history of fetal loss with the presence of apparently de novo mutations due to risk of recurrence due to the existence of a germline mosaicism in one of the parents.
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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.
NGS / EXOME
Genetic Testing
Prenatal DIAGNOSIS
Carrier Testing
