Prenatal

In LabGenetics we are specialized in Prenatal Genetic Diagnosis and we offer the possibility of analyzing the DNA of fetal cells in order to detect during pregnancy, and as quickly as possible, possible genetic abnormalities in the fetus. All prenatal cases are considered urgent and are analyzed as a priority. The study of Exome in Prenatal Genetic Diagnosis can be motivated in several situations:

There is suspicion of the presence of pathology of genetic origin in the fetus.
There is a family history of any inherited genetic disease.

We can perform the study from different types of sample: chorionic villus or amniotic fluid (in both cases both cultured and uncultured). Additionally we perform the study of microsatellite markers (STRs) to detect possible maternal contamination of the sample and also serves to characterize the sex of the fetus, essential data for those diseases with X-linked inheritance.

What we offer at LabGenetics:

Study of gene panels associated with a large number of known syndromes.
Customization of the panel design adapted to the client’s needs.
Prenatal analysis of different types of samples: chorionic villus, amniotic fluid.
STRs analysis to detect possible maternal contamination, as well as for sex determination.
Detection of SNVs, InDels and CNVs by capture probes (coding region +/- 5 bp).
Detección de SNVs, InDels y CNVs mediante sondas de captura (región codificante +/- 5 bp).
Interpretation of variants and issuance of genetic reports.