In Geniality we offer the genetic diagnosis of diseases by sequencing techniques through PCR and panels of Next Generation Sequencing.

With the study of Array CGH it is possible to detect the presence or absence of genetic and chromosomal alterations that manifest as gain of the genetic material or loss of it. In the same way, it includes the study of 160 genetic syndromes and its genetic resolution is situated between 50 and 100 higher than the G banding karyotype.

In the carrier study we analyse previously diagnosed mutations in a member of the family. We will know if any other relative is carrier of that mutation.

BASIC TEST: Detection of trisomies in maternal blood (13, 18, 21 + fetal sex)

EXPANDED TEST: Detection of trisomies in maternal blood (13, 18, 21 + fetal sex +  microdeletion syndrome associated with intellectual disability + changes  in  numbers in the pair sex chromosomes, X and Y)