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 - 5 mls, Children 1 - 2 mls, 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

Transport at room temperature (or refrigerated).

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 - 10 ml
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

PaxGene tube: EDTA can be sent, but needs to be received within 24 hrs 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: 2 ml - 10 ml
Further information: samples must be received in the lab on Monday to Wednesday only

For haemoglobinopathy and rare anaemia referrals, red cell phenotypic data is required, as specified on the request forms.
If the referrer is unable to provide full blood count results or HPLC (or equivalent) results, then we may be able to undertake them in the Oxford Haematology Laboratory before extracting DNA from the remaining blood.
EDTA tubes only
Transport at room temperature (or refrigerated) to arrive within three days of collection
Volume: Adults 2 - 5 mls; Children 1 - 2 mls; Fetal / Neonates 1 ml (only a few microlitres are used for the haematology tests but the remainder is required for DNA extraction)

EDTA tubes only
Transport at room temperature (or refrigerated) to arrive within three days of collection.
Volume: Adults 2 - 5 mls; Children 1 - 2 mls; Fetal / Neonates 1 ml
Typically only used for non-malignant haematology genetics

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

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
If sending DNA samples for non-malignant haematology tests, please first ensure that you have all the required blood results for the request forms

Transport at room temperature to arrive within three days of packaging, but ideally sent by next day delivery to arrive Monday to Friday
One or two flasks (typically 25cm but alternative sizes accepted) of cultured fibroblasts topped up with medium

Either transport live cultured fibroblasts as described under 'Fibroblasts for PDH Assay' above
Or transport a cell pellet:
- Volume: Minimum 50mg in an Eppendorf tube
- Transport by courier on dry ice to arrive within two days of sending
- Further Information: notify lab to expect receipt

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 2 days of sending
Volume: ideally > 50 mg tissue; if quantity is limited 5 - 10 mg may be sufficient
Further information: notify lab to expect receipt

Paraffin embedded tissue - 10 x 10 µm rolled sections in two sterile microtubes (5 sections in each)
Material can be sent at room temperature

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 manufacturers collection protocol supplied with each kit

Muscle/liver biopsies for mitochondrial analysis are listed separately

Samples should be sent dry in a plastic sterile container
Transport at room temperature (or refrigerated) to arrive within three days of collection
Volume: 1 cm square of the tissue is sufficient for the extraction of DNA
Further information: do not fix these tissues (e.g. avoid use of formalin)

Suitable sterile container, such as 20 ml Universal
Transport at room temperature (or refrigerated) to arrive ideally within one day of collection (send by courier if necessary)
Volume: 20 ml of an early morning sample
Further information: please contact us if further advice is required