General

Unit of Genetics was established in "Papageorgiou" General Hospital in 2007 and consists of the departments of Molecular Biology, Cytogenetics and Molecular Genetics.

Unit of Genetics complies with General Data Protection Regulation (GDPR) and represents Greece as a supporting partner in the European Reference Network ERN Ithaca for rare genetic neurodevelopmental and other diseases (https://ern-ithaca.eu/).

Diagnostic Services

Laboratory's field of interest includes the following services:

• HPV Detection & identification of about 40 high and low risk HPV types
• Yq Y chromosome microdeletions
• c-kit Asp816Val Identification of the Asp816Val mutation found in patients with mastocytosis
• Jak2 V617F Identification of a mutation found in patients with myeloproliferative disease
• BCR/ABL Molecular identification of the t(9;22)(q34;q11) translocation for the BCR/ABL gene by RT PCR
• ΔF508 Identification of the ΔF508 mutation found in about 50% of cystic fibrosis cases
• FMF Identification of 12 mutations responsible for Ecogenic Mediterranean Fever. The FMF test carries the accreditation certificate 1211 according to ELOT EN ISO 15189 from ESYD
• Connexin 26 Identification of the Connexin 35delG mutation 26
• ApoB Identification of the R3500QA mutation of the ApoB gene
• ApoE ApoE genotyping
• DNA isolation from peripheral blood or biopsy material
• Κaryotype* Χρωμοσωμικός έλεγχος από περιφερικό αίμα. Έλεγχος του αριθμού και της δομής των χρωμοσωμάτων σε επίπεδο ανάλυσης 5-10Μb.
• Μοριακός καρυότυπος* Συγκριτικός γενωμικός υβριδισμός (array-CGH) από περιφερικό αίμα
  Ανίχνευση μη ισοζυγισμένων χρωμοσωμικών αλλαγών (ανευπλοειδιών, ελλείψεων, διπλασιασμών)
  σε επίπεδο ανάλυσης 200Κb, με διακριτική ικανότητα έως και 1000 φορές μεγαλύτερη από τον
  συμβατικό καρυότυπο.
• Preimplantation Genetic Diagnosis of blastomeres isolated by biopsy from IVF embryos for aneuploidies** by FISH (chromosomes 13,15,16,18,21,22,X,Y and any other chromosome requested if there is an indication)
• Preimplantation Genetic Diagnosis of blastomeres isolated by biopsy from IVF embryos for inverted and Robertson chromosome translocations**
• Post-analysis of all cells of IVF embryos to detect uniform aneuploidy, mosaicism or other abnormalities** (Chromosomes 13,15,16,18,21,22,X,Y and any other chromosome requested if there is an indication)
• Genetic analysis of spermatozoa by FISH** (Chromosomes 13,15,16,18,21,22,X,Y and any other chromosome requested if there is an indication)

* Για τις εξετάσεις του καρυότυπου και του μοριακού καρυότυπου απαιτείται ραντεβού και προσυνεννόηση με το εργαστήριο στο τηλέφωνο 2313 323690.

** For preimplantation genetic analysis of blastomeres, embryos and gametes, an appointment and pre-coordination with the person in charge of preimplantation diagnostics, Dr Katerina Hadjimeletiou, is required at 2313 323827 and 2313 323377.

Sampling for the above tests includes:

• For karyotype test: 4ml of peripheral blood with heparin sulphate as anticoagulant
• for the test ΔF508, FMF, Connexin26, ApoB, ApoE, Yq, c-kit, Jak2, bcr/abl, DNA isolation: 2.5 ml of peripheral blood with EDTA as anticoagulant
• for the test HPV: cervical smear or biopsy in 2 ml of saline or paraffin cube

For the Genetics Laboratory diagnostic tests (other than karyotype and pre-implantation diagnosis) the following apply:

The sample - whole blood - depending on the test requested can be kept at 4oC until transported to the hospital is completed (within 24 hours). Transport must be in the appropriate transport boxes accompanied by an ice pack to maintain the temperature at the desired level.

Samples can be collected at the Laboratory from 08:00 to 15:00 every day (Monday - Friday).

 

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