Clínic Barcelona. Hospital Universitari

Biochemistry and Molecular Genetics

Molecular Genetics

• Determinations relating to genetic diagnosis of hereditary diseases are provided in the Section of Molecular Genetics.
• The section consists of three areas: Cytogenetics, Molecular Genetics and Clinical Genetics, each using its own analytical methods: molecular biology, cytogenetics and molecular cytogenetics.
• The molecular area is a reference center for the network of hospitals linked to the Catalan Health Institute (ICS) and other hospitals in our geographic area.
• Molecular diagnostic tests covering more than 60 hereditary diseases are performed, including the diagnosis of rapid fetal aneuploidies and neonatal screening for cystic fibrosis.
• The DNA Unit provides automated extraction of nucleic acids and genotyping techniques as well as DNA sequencing using Sanger and Next generation Sequencing.
• The Section of Molecular Genetics provide services to all of the clinical laboratories of the Hospital Clínic and other external institutions, such as the research centers IDIBAPS, CEK, ...
• Within the area of cytogenetics an important part of the activity is devoted to prenatal diagnosis, being a referral center for other health centers in Catalonia providing cytogenetic studies in amniotic fluid, chorionic villi, blood, ascites or pleural fluid.
• The techniques used for the detection of chromosomal rearrangements are karyotyping, Fluorescent In situ Hybridization and Comparative Genome Hybridization arrays.
• In the clinical area genetic and reproductive counseling is given on all kinds of genetic diseases in both the prenatal and postnatal setting.

Team

Montserrat Milà (Head of Section)

Montserrat Milà

Head of Section

Section of Molecular Genetics

Head of Department

Biomedical Diagnostic Center (CDB)

Villarroel, 170 · 08036 Barcelona
Tel: +34 93 227 54 64 · Fax: +34 93 227 98 75 · · www.hospitalclinic.org