Molecular Genetics

PGT-A (Preimplantation Genetic Testing for Aneuploidies) solution, that combines WGA and library preparation for NGS (MALBAC® technology).

Non-invasive preimplantation chromosome screening technique.

Detection of 6 mutations associated with dihydropyrimidine dehydrogenase deficiency.

Kit for detecting the C13910T and G22018A polymorphisms of the MCM6 gene by Real Time PCR using specific TaqMan® probes technology. Information about the product In most human beings, the ability to digest lactose rapidly decreases after the breastfeeding period (primary lactose intolerance). This is due to a reduction in the lactase-phlorizin hydrolase enzyme (LPH), which is…

Study of genes associated with heart diseases.

Study of the 44 most clinically relevant genes related to nephropathies.

Kit for the determination of the CTG triplet repeats number of the DMPK gene by fluorescent fragment analysis

Non-invasive prenatal diagnosis of fetal RhD genotype from circulating cell-free fetal DNA in maternal blood, from the 11th week of amenorrhea.

Kit for the determination of the CAG and CTA/CTG triplet repeats number (SCAs 1, 2, 3, 6, 7 and SCA 8, respectively) by fluorescent fragment analysis

Kit for detecting the HLA-DQB1*06:02 alleles by Real Time PCR using TaqMan® probes technology

Kit for detecting the HLA-B*51 and B*52 alleles by Real-Time PCR using TaqMan® probes technology

GENVINSET HLA-A29 detects HLA-A29 group of allelesby real time PCR

Kit for detecting HLA-B*27 alleles by Real time PCR using TaqMan® probes technology Information about the product The major histocompatibility complex (MHC) is the genetic region that contains the most polymorphic loci of the human genome. It is involved in the mechanism of antigen presentation and, as such, defines the general immunological response. Within the MHC,…

Kit for detecting the HLA-DQB1*02, DQB1*03:02 and DQA1*05 alleles by Real Time PCR using TaqMan® probes technology

NGS assay to study 28 genes commonly associated with solid tumor type cancers from circulating cell-free tumor DNA (ccfDNA/cfDNA/ctDNA).

Kit for the determination of the CAG triplet repeats number of the HTT gene by fluorescent fragment analysis

Kit for the determination of healthy and premutation alleles in the FMR1 gene by fluorescent fragment analysis

Kit for detecting the HLA-B*57:01 alleles by Real-Time PCR using TaqMan® probes technology Information about the product Abacavir sulfate is a synthetic carboxylic nucleoside drug, which works as a reverse transcriptase inhibitor and is used to treat HIV (Human Immunodeficiency Virus). This drug has been associated with the occurrence of fatal hypersensitivity reaction with symptoms…

Study of the coding regions of more than 19,000 genes by NGS.

Molecular diagnosis of Male Factor Infertility (aneuploidy, microdeletions, CBAVD)

Analyses the 4 most relevant mutations associated with increased risk of thrombosis