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Oxford University Hospitals NHS Foundation Trust

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Specimen requirements - molecular genetics - constitutional analysis

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

Details of specific sample requirements for molecular genetic tests are provided below.

Blood samples - DNA extraction and molecular testing

  • EDTA tubes only*
  • Transport at room temperature (or refrigerated) to arrive within three days of collection
  • Volume: Adults 2-5mls, Children 1-2mls, Fetal/Neonates 1ml
  • *Further information: Lithium heparin (LiHep) and Sodium Citrate (NaCitrate) samples are accepted for Factor V Leiden / common Prothrombin and HFE genotyping tests
  • For haemoglobinopathy and rare anaemia referrals, please see additional service specific referral information (specimen requirements - red cell disorders page) as red cell phenotypic data is required

Blood spot

Transport at room temperature (or refrigerated)

Blood samples - NIPD samples

  • Streck tubes (EDTA can be used if Streck tubes unavailable but requirement to arrive within 24 hours is then critical)
  • Transport at room temperature to arrive within one day of collection (send by courier if necessary)
  • Volume: 5-10ml
  • Further information: samples need to be received in the lab by 12.00 noon on a Thursday and not on a Friday; do not refrigerate or freeze samples

Blood samples - for RNA extraction

  • PaxGene tubes (can be supplied on request by the lab). EDTA can be sent, but needs to be received within 24 hours of sampling
  • Transport at room temperature (or refrigerated) to arrive within one day of collection (send by courier if necessary; delay will lead to loss of RNA within cells)
  • Volume: 2ml-10ml
  • Further information: samples must be received in the lab on Monday to Wednesday only

Amniotic fluid and chorionic villi samples

Refer to specimen requirements - cytogenetics for further details.

Tissue samples

(Muscle/liver biopsies for mitochondrial analysis are listed separately.)

  • Sterile universals containing 10ml of tissue transport medium (supplied by the lab). Larger samples, which will not fit into a 20ml universal, should be sent dry in a plastic sterile container
  • Transport at room temperature (or refrigerated) to arrive within three days of collection
  • Volume: 1cm square of the tissue is sufficient for the extraction of DNA
  • Further information: do not fix these tissues

Muscle/liver biopsies (for mitochondrial genetic analysis)

  • Samples should be snap frozen immediately in liquid nitrogen
  • Can be stored at -80°C prior to sending
  • Transport by courier on dry ice to arrive within two days of sending
  • Volume: ideally >50mg tissue; if quantity is limited 5-10mg may be sufficient
  • Further information: notify lab to expect receipt

Saliva samples

  • Oragene DNA collection vials (supplied on request by the lab)
  • Once the saliva sample has been mixed with the Oragene. DNA solution it is stable at room temperature for a few years (refer to the manufacturer's collection protocol supplied with each kit)
  • Transport at room temperature (or refrigerated)
  • Volume: as per manufacturer's collection protocol supplied with each kit
  • Further information: February 2021 laboratories are not currently routinely accepting saliva samples due to COVID-19: please contact us for further details. Any referral must be discussed and agreed prior to sending.

Urine samples (for mitochondrial genetic analysis)

  • Suitable sterile container, such as 20ml universal
  • Transport at room temperature (or refrigerated) to arrive within one day of collection (send by courier if necessary)
  • Volume: 20ml of an early morning sample

DNA samples

  • Transport at room temperature (or refrigerated)
  • Volume: required amounts are dependent on the tests requested - as a guide exome analysis needs 3ug at a concentration no less than 30ng/ul but less DNA is required for other tests. Contact us for more information
  • Further information: overnight courier transport is preferable for urgent samples, e.g. for prenatal analysis

Fixed tissues and tissue slides (FFPE)

  • Slides need to be in a slide box and packaged with sufficient padding
  • Transport at room temperature (or refrigerated)

Notes

Additional samples types may be accepted for analysis.

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