{"id":10075,"date":"2020-12-22T08:28:53","date_gmt":"2020-12-22T06:28:53","guid":{"rendered":"https:\/\/www.incliva.es\/services\/plataforms\/laboratorio-de-citogenetica\/"},"modified":"2025-01-23T13:43:41","modified_gmt":"2025-01-23T11:43:41","slug":"medical-genetics-and-genomics-section","status":"publish","type":"page","link":"https:\/\/www.incliva.es\/en\/services\/platforms\/medical-genetics-and-genomics-section\/","title":{"rendered":"Medical Genetics and Genomics Section"},"content":{"rendered":"

Introduction<\/h5>\n

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).<\/p>\n<\/div>

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Services<\/h5>\n

\u2022 Genetic counselling consultation.
\n\u2022 Conventional cytogenetic analysis: karyotype.
\n\u2022 Molecular cytogenetic analysis by FISH, M-FISH and Comparative Genomic Hybridization arrays (CGH array).
\n\u2022 Determination of alterations in the genome sequence: Sanger sequencing, real-time PCR or fragment analysis.
\n\u2022 Clinical exome \/ exome directed panel using Next Generation Sequencing (NGS).<\/p>\n<\/div>

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Equipment<\/h5>\n
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  • Culture room supplied with biosafety class II cabin and CO2<\/sub><\/li>\n
  • HANABI-PV Metaphase Auto-Spreader: Automated preparation of metaphases on slides maintaining constant temperature and humidity conditions.<\/li>\n
  • Metafer system: Automated system for microscopic analysis and digitization of images obtained from both optical and fluorescence microscopy.<\/li>\n
  • ThermoBrite: Programmable temperature controlled slide processing system for in-situ denaturation\/hybridization procedures.<\/li>\n
  • Array CGH and NGS equipament: thermocyclers, hybridator, etc.<\/li>\n
  • SeqStudio genetic analyser system (Applied Biosystems).<\/li>\n
  • Real-time PCR Cobas 4800 (Roche).<\/li>\n
  • Systems for quantification and quality analysis for nucleic acids: Nanodrop spectrophotometer uv-vis, Qubit fluorometer and Tape Station electrophoretic system.<\/li>\n<\/ul>\n<\/div>
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    Team<\/h5>\n

    Biochemistry specialist practitioner: Dr. Ana Cuesta Peredo, Gracia Hern\u00e1ndez Poveda and Adela Pozo Gir\u00e1ldez
    \nSenior technicians: Dr. M. Rosario Abell\u00e1n S\u00e1nchez and Ana Ruiz Quilez
    \nTechnicians: M. Dolores Villar Serrano and Jaume Mart\u00ednez Gand\u00eda<\/p>\n<\/div>

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    Quality<\/h5>\n

    The Clinical Biochemistry and Molecular Pathology Service to which this section belongs is certified with ISO 9001:2015 quality certification<\/p>\n<\/div><\/div><\/div>