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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 when there is clinical suspicion of a disease or family history without knowing the specific mutation.

In addition, in the case of couples in which one of the members is a carrier of a mutation in a recessive inheritance gene, it is possible to analyze the complete gene of the other member and estimate the risk of recurrence.

The Sanger study of individual genes is interesting to perform when the coverage of genes by NGS is not very high, or to complete a given panel if there are genes not included. At LabGenetics we can optimize Sanger sequencing of any new gene without any problem.

This study can also be performed in prenatal samples, in pregnancies in which there is suspicion based on biochemical or ultrasound markers of the presence of a pathology of genetic origin in the fetus, or there is a family history of a hereditary genetic disease but no genetic information of the family pathology is available.

SEARCH BY DISEASE OR GENE

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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.