Genotyping and Genetic Diagnosis

Descripción

The Genotyping and Genetic Diagnosis Unit of INCLIVA is pioneer in the Valencia Region Health System and has consolidated experience in genetic studies of diseases such as hypercholesterolemia, diabetes, cancer (breast, colon and others), neurodegenerative disorders (including Alzheimer), renal diseases, pancreatitis, cystic fibrosis and several rare diseases, among others.

Aplicaciones

INCLIVA puts the expertise of its Genotyping and Genetic Diagnosis Unit at disposal for developing genetic tests based on DNA or RNA biomarkers using molecular biology technics such as PCR, real-time PCR, DNA microarrays or next generation sequencing.

Ventajas

The Genotyping and Genetic Diagnosis Unit of INCLIVA works following standardized procedures and has implemented and maintains a Quality Management System  with ISO 9001 certification.

Servicios ofertados

FUNCTIONS:

• Research on the genetic bases of hereditary disease: identification of mutations and genes involved in the disease and the variability of the phenotype.

• Research on the genetic and epigenetic bases of multifactorial diseases.

• Research in ambient factors and their interaction with genetic variations in relation to multifactorial diseases.

• Research and development of procedures to conduct of different types of genetic studies.

• Support to clinical practice by conducting genetic studies.

• Support to other research groups by conducting different genetic studies.

EQUIPMENTS:

• Illumina HiScan System, for microarray of high capacity or own design chips of different capacities.

• Roche’s 454 Junior Sequencer of next-generation sequencing.

• Illumina’s MiSeq Sequencer of next-generation sequencing.

• Applied Biosystems Automated Sequencer 3730 (48 capillaries).

• Roche LightCycler 480 Quantitative Thermal Cycler and Standard Thermal Cycler (768, 385 or 96 samples).