Constitutional - Cyto

Blood for karyotyping (chromosome map) and/or FISH (fluorescence in-situ hybridisation) for constitutional chromosome abnormalities

• Sample type: unclotted blood, with sodium heparin as anticoagulant
• Quantity: 5-10 ml (min. ≥ 2.5 ml; for newborns 0.5 ml is acceptable)
• Instructions for the sampling
• Storage: at room temperature, away from direct sunlight
• Delivery to the lab: within 48 hours after the sample was taken, before 5 pm (on Fridays before 2 pm)

Blood for molecular karyotyping (by CNV sequencing)

• Sample type: unclotted blood, with EDTA as anticoagulant
• Quantity: 1 tube with > = 5 ml (for newborns 1 ml is acceptable)
• Instructions for the sampling
• Storage: at room temperature, away from direct sunlight
• Delivery to the lab: within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before
  2 pm)

Blood for creation of an EBV cell line

• Sample type: unclotted blood, with sodium heparin as anticoagulant
• Quantity: 20 ml of heparin blood
• Instructions for the sampling
• Storage: at room temperature, away from direct sunlight
• Delivery to the lab: within 24 hours after the sample was taken, to deliver before 5 pm (not on Fridays)
• Remarks:
  • Samples for EBV cell lines are best taken on Mondays or Tuesdays (not on Fridays!)
  • Notify the lab by calling the CMGG secretariat: +32 9 332 2477

Tissues other than blood for tissue culture

• Sample type: sterilely taken biopsy (e.g. skin), autopsy sample, tumour tissue or other human tissue
• Processing: put the tissues immediately in a sterile container with sterile culture medium or – if not available – sterile isotonic solution (no formalin!)
• Storage: at room temperature, away from direct sunlight
• Delivery to the lab: within 24 hours after the sample was taken, to deliver before 5 pm (on Fridays before
  2 pm).
• Remarks: Notify the lab by calling the CMGG secretariat: +32 9 332 2477