Molecular Genetics

Kit for the determination of healthy, premutation and mutant alleles in the FMR1 gene by fluorescent fragment analysis Information about the product […]

Kit for the determination of healthy and premutation alleles in the FMR1 gene by fluorescent fragment analysis Information about the product Fragile […]

Kit for the determination of the GAA triplet repeats number of the FXN gene by fluorescent fragment analysis. Information about the product […]

Kit for the determination of the CAG triplet repeats number of the HTT gene by fluorescent fragment analysis Information about the product […]

KKit for the determination of the CTG triplet repeats number of the DMPK gene by fluorescent fragment analysis Information about the product […]

Kit for the determination of the CTG triplet repeats number of the DMPK gene by fluorescent fragment analysis Information about the product […]

Kit for the determination of the CAG and CTA/CTG triplet repeats number (SCAs 1, 2, 3, 6, 7 and SCA […]

Study of genes associated with heart diseases.

Analysis of 4,728 genes related to rare and hereditary disorders.

Qualtative detection and idenetification of 12 aditional mutations within the CFTR gene in a single reaction.

Qualitative in vitro detection of the 50 most common human CFTR gene mutations in the European population.

Detection of 6 mutations associated with dihydropyrimidine dehydrogenase deficiency.

Determination of the status of chromosome 21 aneuploidies.

Routine quantitative diagnosis of the most common viable autosomal trisomies: trisomy 13 (Patau syndrome), trisomy 18 (Edwards syndrome) and trisomy 21 (Down syndrome).

Kit for additional chromosome 13 autosomal markers.

Kit containing additional autosomal markers for chromosome 18.

Prognostic and predictive molecular in vitro test to determine the risk of recurrence and the absolute benefit of chemotherapy over the next 15 and 10 years, respectively, in patients with ER+/HER2- primary breast cancer.

Endometrial Receptivity Test to improve the clinical pregnancy of IVF-ET (In vitro Fertilization & Embryo Transfer).

Kit for detecting the HLA-B*57:01 alleles by Real-Time PCR using TaqMan® probes technology Information about the product Abacavir sulfate is […]

Kit for the detection of HLA-DQA1*05 allele by Real-Time PCR technology using TaqMan® probes technology. Information about the product Several […]

Kit for detecting the C13910T and G22018A polymorphisms of the MCM6 gene by Real Time PCR using specific TaqMan® probes technology. Information […]

Distinguish mutated alleles from wild type alleles through fragment analysis.

Identification of germline mutations involved in hereditary cancers.

Study of over 560 genes related to common hereditary diseases.

Twist Human Core Exome and Twist Human Core Exome + Ref Seq are the two capture solutions for human exome […]

In vitro diagnostic test for the amplification and detection of CGG associated to Fragile X Syndrome

LCT-mutation kit is a complete, fast and reliable system for allelic discrimination of LTC C-13910T and G-22018A through real time PCR.

Global genetic diagnostic test and risk stratification of patients with clinical suspicion of familial hypercholesterolaemia.

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

In vitro quantitative diagnosis of the six most common autosomal trisomies associated with pregnancy loss.

Analysis of Y chromosome microdeletions in unfertile subjects by multiplex PCR amplification and automatic sequencer

The most comprehensive tumor test to determine Homologous Recombination Deficiency (HDR) Status by studying the BRCA genes in patients with ovarian cancer.

La prueba más completa para determinar el estado de deficiencia de la recombinación homóloga (HDR) estudiando los genes BRCA y 13 más adicionales, en pacientes con cáncer de ovario.

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

Non-invasive preimplantation chromosome screening technique.

Kits based on Next-Generation Sequencing technology for the analysis of multiple genes.

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

Neonatal screening tests for severe combined immunodeficiency, X-linked agammaglobulinaemia or Bruton's disease and spinal muscular atrophy.

Genetic diagnostic test for sudden cardiac death and familial heart disease.

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