Individual genes

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

There is a suspicion, based on biochemical or ultrasound markers, of the presence of a pathology of genetic origin in the fetus.
There is a family history of an inherited genetic disease, but no genetic information on the family pathology is available.

In order to perform these genetic studies for prenatal diagnosis of hereditary diseases, in addition to sending the fetal sample (chorionic villi or amniotic fluid), it is advisable to perform a cell culture of the fetal sample in case the amount of DNA obtained in the first instance is not sufficient to complete the prenatal genetic study. This is especially important in those cases in which the genes are large or in those diseases in which there are many genes associated with the development of the same.

Similarly, it is essential to send peripheral blood from the pregnant mother to rule out possible maternal contamination in the fetal sample, through the study of microsatellite markers (STRs). This test is also used to characterize the sex of the fetus, which is essential for those diseases with X-linked inheritance.