Genomic and Genetic Disorders Biobank

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19 | 09 | 2021
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1. Storage of DNA, RNA and cell lines samples of genomic disorders

2. Storage of biological samples of patients with genomic disorders and when available of their relatives
- cell lines are stored in liquid nitrogen (-180°C) in cryopreservation vials containing freezing medium
- RNAs are stored at -80°C in freezing specimen vials;
- DNA samples are stored at +4°C

3. Epstein Barr Virus (EBV) transformation service from fresh peripheral blood lymphocytes
The GDB offers an EBV transfomation service from peripheral blood lymphocytes. A minimum of 10 ml of blood in sodium heparin tubes is required and should arrive at GDB within 24-36 hours.

4. Fibroblast cell cultures from skin biopsies

5. Clinical and cognitive phenotype description of the majority of cases

6. Sample characterization by cytogenetics and molecular analysis such as FISH, MLPA, QPCR aCGH and microsatellites genotyping.

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