Molecular Genetics

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

Expression study of genes related to Alzheimer’s Disease.

Study of the genes which participate in the fibrotic process.

Study of genes involved in core metabolic processes and immunometabolism.

Expression study of genes involved in six fundamental themes of neurodegeneration: neurotransmission, neuron-glia interaction, neuroplasticity, cell structure integrity, neuroinflammation, and metabolism.

Non-invasive preimplantation chromosome screening technique.

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.

Twist Human Comprehensive Exome and Twist Human Exome 2.0+ are two of the capture solutions for human exome sequencing from Twist Bioscience. The combination of Twist's proprietary double-stranded DNA (dsDNA) probes and its library preparation and capture reagents achieves the best market uniformity of coverage and the lowest duplicate rate, generating the highest quality data…

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

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

Study of genes associated with heart diseases.