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Oxford University Hospitals NHS Foundation Trust

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specimen requirements - Cytogenetics

General Specimen requirements

All samples MUST be accompanied by a referral form
Haemato-oncology sample referral card

Blood samples – Chromosomes/Karyotype

  • Container/Tube Type: Heparinised tube
  • Delayed in Transit: >3 day. Urgent samples should arrive the same day e.g. Fetal/Neonatal samples and samples relating to ongoing pregnancy
  • Temperature: room temperature or refrigerated. Blood samples must NOT be frozen
  • Volume: Adults 2-5mls, Children 1-2mls, Fetal/Neonates 0.5-1ml

Blood samples – Arrays

  • Container/Tube Type: EDTA tube (Heparinised tube if karyotyping, see above)
  • Delayed in Transit: >3 days. Urgent samples should arrive the same day e.g. Fetal/Neonatal samples and samples relating to ongoing pregnancy
  • Temperature: room temperature or refrigerated
  • Volume: Adults 2-5mls, Children 1-2mls, Fetal/Neonates 0.5-1ml

Buccal sample

  • Container/Tube Type: Sterile Universal
  • Delayed in Transit: >1 day (sample should be sent without delay as any delay may impact test performance)
  • Temperature: room temperature or refrigerated
  • Volume: not specified

Amniotic Fluid samples

  • Container/Tube Type: Sterile Universal
  • Delayed in Transit: >1 day (sample should be sent without delay as any delay may impact test performance)
  • Temperature: room temperature or refrigerated
  • Volume: 10-20mls

Chorionic Villis (CVS) samples

  • Container/Tube Type: CVS Transport Medium (supplied by the lab)*
  • Delayed in Transit: >1day (sample should be sent without delay as any delay may impact test performance). Note: samples should be received by 3pm on a Friday.
  • Temperature: room temperature or refrigerated
  • Volume: >5mg for cytogenetics tests or >10mg if molecular tests are required

Fetal Tissue samples/POC

  • Container/Tube Type:

    Cord Blood – Paediatric Lithium Heparin
    Placenta – Tissue Transport Medium (supplied by the lab)*
    Skin Biopsy – Tissue Transport medium*
    Spleen/lung/other tissue – Tissue Transport medium*

  • Delayed in Transit: >1 day
  • Temperature: room temperature or refrigerated
  • Volume:

    Cord Blood – 0.5-1ml
    Placenta – 1 cubic cm, from near cord insertion site
    Skin Biopsy – full depth
    Spleen/lung/other tissue – 1 cubic cm

  • Further Information: formalin fixed tissue is NOT suitable for cytogenetic investigations

Blood samples NIPT samples

  • Container/Tube Type: Streck tubes
  • Delayed in Transit: >1 day
  • Temperature: room temperature (DO NOT refrigerate or freeze)
  • Volume: 5-10ml

Skin biopsy sample (adult/child) – for DNA extraction and culturing

  • Container/Tube Type: Tissue Transport Medium (supplied by the lab)*
  • Delayed in Transit: >1 day for culture and  >3 days for DNA extraction
  • Temperature: room temperature
  • Volume: full depth

Bone Marrow Aspirate/ Bone Marrow Trephine

  • Container/Tube Type: Marrow Transport Medium (supplied by the lab)*. If not available, a heparinised tube can be used
  • Delayed in Transit: >1 day. Delay will lead to loss of malignant cells therefore the sample should be sent without delay
  • Temperature: room temperature or refrigerated
  • Volume: amount depends on availability at sampling

Smear Slides of Blood or Bone Marrow

  • Container/Tube Type: slide that need to be in a slide box and packaged with sufficient padding
  • Delayed in Transit: >2 days
  • Temperature: room temperature
  • Volume: N/A

Pleural Effusion

  • Container/Tube Type: Sterile Container
  • Delayed in Transit: >1 day
  • Temperature: room temperature or refrigerated
  • Volume: >1ml

Cerebral Spinal Fluid

  • Container/Tube Type: Sterile Container
  • Delayed in Transit: >1 day
  • Temperature: room temperature or refrigerated
  • Volume: >1ml

Lymph Node Biopsy

  • Container/Tube Type: Transport Medium (supplied by the lab)*
  • Delayed in Transit: >1 day. that need to be in a slide box and packaged with sufficient padding
  • Temperature: room temperature or refrigerated
  • Volume: amount depends on availability at sampling

Tumour Biopsy

  • Container/Tube Type: Transport Medium (supplied by the lab)*
  • Delayed in Transit: >1 day. Sample should be sent without delay as any delay may impact test performance
  • Temperature: room temperature or refrigerated
  • Volume: amount depends on availability at sampling

Fixed tissue slides

  • Container/Tube Type: FFPE tissue sections mounted on slides that need to be in a slide box and packaged with sufficient padding
  • Delayed in Transit: not specified
  • Temperature: room temperature
  • Volume: N/A

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

With the exception of NIPT samples, all fresh cytogenetic samples can be stored overnight at +4-8oC if there is an unavoidable delay between sample collection and dispatch. NIPT samples must be kept at room temperature only. Avoid sending samples to arrive at the weekend or just prior to a Bank Holiday.

For fresh tissues, transit time is recorded as the time between the date the sample was taken and the date the sample arrived in the Genetics Laboratory. For non-fresh samples (i.e. those that have been stored by another department prior to sending to us for extraction, e.g. frozen tissues, paraffin blocks and blood spots) the date of ‘sample sent’ is used. Delayed in transit has been defined to enable the laboratory to monitor performance in order to comply with requirements of ISO15189.

Additional samples types may be accepted for analysis. Clinicians are advised to contact the laboratory to discuss specific specimen requirements prior to arranging specimen collection.

Last updated: 21-Nov-2019 by Claire Scott.

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