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Cytogenetics specimen requirements

Refer to the specimen requirements and referring samples page for general information (including high risk samples and labelling and packaging requirements).

Blood samples - Chromosomes / Karyotype

  • Heparinised tube
  • Transport at room temperature (or refrigerated) to arrive within 3 days of collection
  • Adults 2 - 5 mls; Children 1 - 2 mls; Fetal / Neonates 0.5 - 1 ml
  • Further information: urgent samples should arrive the same day e.g. Fetal / Neonatal samples and samples relating to an ongoing pregnancy
  • Do not freeze samples

Blood samples - Arrays

  • EDTA tube (plus heparinised tube if also karyotyping, see above)
  • Transport at room temperature (or refrigerated) to arrive within 3 days of collection.
  • Volume: Adults 2 - 5 mls; Children 1 - 2 mls; Fetal / Neonates 0.5 - 1 ml
  • Further information: urgent samples should arrive the same day e.g. Fetal / Neonatal samples and samples relating to ongoing pregnancy
  • Do not freeze samples

Buccal samples

Tissue Transport Medium and buccal brush (supplied by the lab)* transport at room temperature (or refrigerated) to arrive within 1 day of collection (sample should be sent without delay as any delay may impact test performance)

The clinician must confirm that the patient was not known or suspected to have COVID-19 infection at the time of sampling: a COVID exemption form should be sent with the sample

Fetal tissue samples / POC

Medium

  • Cord Blood - Paediatric Lithium Heparin
  • Placenta - Tissue Transport Medium (supplied by the lab)*
  • Skin biopsy - Tissue Transport Medium*
  • Spleen / other tissue - Tissue Transport Medium*

Transport at room temperature (or refrigerated) to arrive within 1 day of collection (sample should be sent without delay as any delay may impact test performance)

Volume

  • Cord blood - 0.5 - 1 ml
  • Placenta - 1 cubic cm, from near cord insertion site
  • Skin biopsy - full depth
  • Other tissue - 1 cubic cm

Further information: the laboratories are not routinely accepting fetal lung samples due to COVID-19: any referral must be discussed and agreed prior to sending

Formalin fixed tissue is not suitable for cytogenetic investigations

Skin biopsy sample (adult / child)

For DNA extraction and / or culturing

  • Tissue Transport Medium (supplied by the lab)*
  • Transport at room temperature (or refrigerated) to arrive within 1 day of collection for culture and within 3 days of collection for DNA extraction
  • Volume: full depth

Bone Marrow Aspirate / Blood / Bone Marrow Trephine - karyotyping and FISH

  • Marrow Transport Medium (supplied by the lab)* - if not available, a heparinised tube can be used
  • Transport at room temperature (or refrigerated) to arrive within 1 day of collection (delay will lead to loss of malignant cells therefore the sample should be sent without delay)
  • Volume will depend on the availability at sampling
  • Further information: these samples must not be frozen

Bone Marrow Aspirate - SNP Arrays

Bone marrow in EDTA - paediatric cases

  • The sample is sent from the bedside directly to the WMRGL, to arrive within 2 days of collection
  • Volume will depend on the availability at sampling

Bone marrow in EDTA - adult cases

  • Volume will depend on the availability at sampling
  • Transport to Molecular Haematology within 2 days of collection

Smear Slides of Blood or Bone Marrow

  • Slides need to be in a slide box and packaged with sufficient padding
  • Transport at room temperature (or refrigerated) to arrive within 2 days of collection

Pleural Effusion

  • Sterile container
  • Transport at room temperature (or refrigerated) to arrive within 1 day of collection
  • Volume: > 1 ml

Cerebral Spinal Fluid

  • Sterile container
  • Transport at room temperature (or refrigerated) to arrive within 1 day of collection
  • Volume: > 1 ml

Lymph Node Biopsy

  • Transport Medium (supplied by the lab)*
  • Transport at room temperature (or refrigerated) to arrive ASAP and within 1 day of collection (sample should be sent without delay as any delay may impact test performance)
  • Volume: amount depends on availability at sampling

Fixed tissue (FFPE) slides

  • Slides should be cut between 3 and 5┬Ám and placed on positively charged slides with an associated H&E slide indicating the region of tumour to review, alongside an estimation of the percentage of tumour cells in the sample
  • FFPE tissue sections must be packaged with sufficient padding
  • Transport at room temperature

Notes

*If the required medium is not available, there may be an alternative option which can be used - please contact us for further advice.

Additional sample types may be accepted for analysis.

For additional sample types, please contact us to discuss specific specimen requirements prior to arranging specimen collection.

Last reviewed:20 November 2023