Medical Genetics and Genomics Section

Introduction

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).

Services

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

Equipment

• 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).
• Systems for quantification and quality analysis for nucleic acids: Nanodrop spectrophotometer uv-vis, Qubit fluorometer and Tape Station electrophoretic system.

Team

Biochemistry specialist practitioner: Dr. Ana Cuesta Peredo, Gracia Hernández Poveda and Adela Pozo Giráldez
Senior technicians: Dr. M. Rosario Abellán Sánchez and Ana Ruiz Quilez
Technicians: M. Dolores Villar Serrano and Jaume Martínez Gandía

Quality

The Clinical Biochemistry and Molecular Pathology Service to which this section belongs is certified with ISO 9001:2015 quality certification