Exome

At LabGenetics we specialize 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, any 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:

If there is suspicion of the presence of pathology of genetic origin in the fetus.
If there is a family history of a hereditary 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, which is essential for those diseases with X-linked inheritance.

What we offer at LabGenetics:

Study of panels of genes associated with known syndromes by simultaneous analysis of 6,610 genes of interest.
Customization of 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.
Average depth >300x and greater than 99% coverage in most panels.
Detection of SNVs, InDels and CNVs by capture probes (coding region +/- 5 bp).
Interpretation of variants and issuance of genetic reports.