GENOMICS AND TRASLATIONAL GENETICS CORE FACILITIES

Genomics and Translational Genetics

Our mission is to provide support services to clinicians and healthcare providers. The service specializes in testing for single-gene genetic diseases, birth defects, chromosomal and genomic syndromes, intellectual disabilities, and other diseases with genetic components. This allows us to provide diagnoses and genetic counseling, thereby improving the healthcare provided to patients and their families.

  • Equipment and Resources
  • Services
  • NGS MiSeq (Illumina).
  • Bravo NGS automated liquid handling platform with VWorks automation control software (Agilent Technologies).
  • 3730xl DNA analyzer (Applied Biosystems).
  • 4200 TapeStation (Agilent Technologies).
  • S220 focused-ultrasonicator (Covaris).
  • G2505C microarray scanner (Agilent Technologies).
  • G2545A hybridization oven (Agilent Technologies).
  • HS4800Pro hybridization station (Tecan).
  • 2100 Bioanalyzers (Agilent Technologies).
  • 24 5G FastPrep tissue homogenizer (MP Biomedicals).
  • ND1000 Nanodrop spectrophotometer (Thermo Fisher Scientific).
  • 480 II 96-well and 384-well plate LightCycler (Roche).
  • BX41TF karyotyping platform (Olympus).
  • Personalized genetic counseling.
  • Pre- and post-natal molecular genetic diagnosis of human hereditary disease.
    • Monogenic diseases.
      • Muscular diseases.
      • Peripheral nerve diseases.
      • Neuromuscular junction diseases.
      • Autosomal recessive cerebellar ataxias (ARCAs).
    • Genomic syndromes (e.g., microdeletions and microduplications), cromosomopathies, and other genetic disorders (e.g., onco-hematological diseases, autism, etc.).
  • Microarrays:
    • Low-density: 15K, 44K, 105K, and 244K.
    • High-density: 60K, 180K, 400K, and 1M.
      • aCGH.
      • aCGH + SNPs.
      • Gene expression.
      • miRNA.
      • ChIP-on-ChiP and metylation.
      • Customs designs.
  • Sample treatments (DNA, RNA, and miRNA extraction from plants, bacteria, cultured cells, fresh tissue, and paraffin, etc.).
  • Sanger sequencing, fingerprinting, MLPA, and haplotypes.
  • Sample quality control.
  • qPCR (differential genes and miRNA expression, relative quantification, virus titration, etc.) with Sybr and Taqman probes.
  • Next-generation sequencing (NGS) including:
    • Gene panel.
    • RNAseq.
    • miRNAseq.
  • Bioinformatic analysis.

Get in touch with the Genomics and Translational Genetics service:

    Laura Ramirez

    lramirez@cipf.es

    963289680 ext. 1204