Genetic diseases can be caused by alterations that affect entire chromosomes, chromosomal regions (chromosomal alterations), the structure or number of copies of specific chromosome regions (copy number variation, CNV), or the coding or regulatory DNA sequence of genes (genetic mutations).


• Conventional cytogenetic analysis: karyotype.
• Molecular cytogenetic analysis by FISH, M-FISH and array CGH.
• Determination of alterations in the genome sequence: Sanger sequencing, quantitative PCR or fragment analysis.
• Clinical exome / exome directed panel using Next Generation Sequencing (NGS).

  • Culture room supplied with biosafety class II cabin and CO2
  • HANABI-PV Metaphase Auto-Spreader: Automated preparation of metaphases on slides maintaining constant temperature and humidity conditions.
  • Metafer system: Automated system for microscopic analysis and digitization of images obtained from both optical and fluorescence microscopy.
  • ThermoBrite: Programmable temperature controlled slide processing system for in-situ denaturation/hybridization procedures.
  • Array CGH and NGS equipament: thermocyclers, hybridator, etc.
  • SeqStudio genetic analyser system (Applied Biosystems).
  • Real-time PCR Cobas 4800 (Roche).
  • Sistemas de cuantificación y análisis de calidad de ácidos nucleicos: Nanodrop spectrophotometer uv-vis, Qubit fluorometer and Tape Station electrophoretic system.

Biochemistry specialist practitioner: Dra. Ana Cuesta Peredo y Gracia Hernández Poveda
Senior technicians: Dra. M. Rosario Abellán Sánchez y Ana Ruiz Quilez

Rates (Personalized budgets are made adjusted to the requested work)
  • Conventional cytogenetics:
    1. Karyotype
    2. FISH
    3. M-FISH
  • DNA extraction and purification
  • DNA quality and quantity analysis (spectrophotometry, fluorescence and automated electrophoresis analysis)
  • CGH array 60K
  • Sanger sequencing (N amplicons)
  • qPCR
  • Fragment analysis
  • Clinic exome / Exome directed panel
    • 17 Mb
    • 58 Mb
Responsible for the laboratory

Dr. Ana Cuesta


Clinical Biochemistry and Molecular Pathology Service
University Clinical Hospital of Valencia
Maternal and Infant Building, 2nd floor
Ave. Blasco Ibáñez 17
46010   Valencia