Cytogenetics specimen requirements

Details of specific sample requirements for cytogenetic tests are provided below.

Blood samples - chromosomes/karyotype

• Heparinised tube
• Transport at room temperature (or refrigerated) to arrive within 3 days of collection.
• Adults 2-5mls, Children 1-2mls, Fetal/Neonates 0.5-1ml
• Further information: urgent samples should arrive the same day e.g. Fetal/Neonatal samples and samples relating to 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 2-5mls, Children 1-2mls, Fetal/Neonates 0.5-1ml
• 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

• Sterile universal
• 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)
• Further information: February 2022: the laboratories are not currently routinely accepting buccal samples due to COVID-19; please contact us for further details. Any referral must be discussed and agreed prior to sending

Amniotic fluid samples

• Sterile universal
• Transport at room temperature (or refrigerated) to arrive within one day of collection (sample should be sent without delay as any delay may impact test performance)
• Volume: 10-20mls

Chorionic Villi samples (CVS)

• CVS Transport Medium (supplied by the lab)*
• Transport at room temperature (or refrigerated) to arrive within one day of collection (sample should be sent without delay as any delay may impact test performance)
• Quantity: >5mg for cytogenetics tests or >10mg if molecular tests are required
• Further information: samples should be received by 3.00pm on a Friday
  

Fetal tissue samples / POC

• 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*
• Transport at room temperature (or refrigerated) to arrive within one day of collection (sample should be sent without delay as any delay may impact test performance)
• Volume: Cord blood - 0.5-1ml; Placenta - 1 cubic cm, from near cord insertion site; Skin biopsy - full depth; Other tissue - 1 cubic cm
• Further information: February 2022: the laboratories are not currently 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 one day of collection for culture and within three days of collection for DNA extraction
• Volume: full depth

Bone marrow aspirate / bone marrow trephine

• 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 one day of collection (delay will lead to loss of malignant cells therefore the sample should be sent without delay)
• Volume: amount depends on availability at sampling
• Further information: these samples must not be frozen
  

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 two days of collection

Pleural effusion

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

Cerebral spinal fluid

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

Lymph node biopsy

• Transport Medium (supplied by the lab)*
• Transport at room temperature (or refrigerated) to arrive within one 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 slides

• FFPE tissue sections mounted on slides in a slide box and packaged with sufficient padding
• Transport at room temperature (or refrigerated)

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.