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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 +4-8^oC 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.