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East Genomics

Sample requirements

Please ensure you follow the specific sample requirements for the test you need. If you have any questions please get in touch. Our laboratories only accept samples from clinicians after a clinical referral has been made.

Sample labelling

All patient samples must be labelled as a minimum with:

  • Name
  • Date of birth
  • NHS number / hospital number
  • Test number (taken from the National Test Directory) if known

Failure to provide these minimum details in a legible manner will result in rejection of the sample for testing.

Failure to match the information on the sample with the information on the request form will result in rejection of the sample for testing.

Rare and inherited disease testing

Peripheral blood samples

Adults: 5ml blood
Children: 1 to 2ml blood

DNA investigations: EDTA blood tube

Chromosome investigations (karyotype): Lithium Heparin blood tube

Saliva, mouthwash or buccal swab samples

The laboratory will accept saliva, mouthwash or buccal swab samples for certain genetic tests. Please contact the laboratory prior to arranging the sample.

Due to risks associated with respiratory illness, we only accept samples collected in GenoTek Oragene mouthwash/saliva kits and GenoTek Oragene Buccal Swab kits. Samples received in alternative collection kits will be discarded.

Skin sample

Please contact the laboratory prior to arranging sample.

4mm2 (minimum 3mm2) sample in sterile tissue transport medium (provided by the laboratory) within leak-proof plastic container.

Cultured cells

Cultured cells in sterile container or fixed cell suspension in a leak proof container.

DNA samples

Samples of extracted DNA (50ul DNA at concentration of ~500ng/ul) should be in a leak proof plastic container and sent at room temperature.

Sample for RNA analysis

Please contact the laboratory prior to arranging sample

Other sample types

Please contact the laboratory to discuss requirements prior to arranging the sample.

Rare and inherited disease - prenatal samples

Please contact the laboratory prior to arranging a prenatal sample using our pre-natal pre-notification form.

Amniotic fluid samples

10 to 20ml in sterile leak-proof container.

Chorionic villi and Placental membranes samples

Chorionic villi - 10-30mg of tissue in sterile tissue transport medium within leak-proof plastic container.

Placental membranes in sterile tissue transport medium within leak-proof plastic container.

Contact the laboratory for information on appropriate tissue transport medium.

Products of conception samples

Place in a sterile leak-proof container.

Skin biopsy

4mm2 (minimum 3mm2) sample in sterile tissue transport medium (provided by the laboratory) within leak-proof plastic container.

Non-invasive prenatal diagnosis testing

Please contact the laboratory prior to arranging sample.

Bone Marrow

Cytogenetic analysis

Bone marrow aspirate (1-2mL) in bone marrow transport medium containing RPMI medium, heparin and antibiotics (available from the laboratory on request). If unavailable, samples should be placed in lithium heparin.

Samples for CLL and Multiple Myeloma FISH should be sent in EDTA.

Molecular genomic analysis

A separate peripheral blood (EDTA) or bone marrow (EDTA) sample is required (usually 5-10 mL; 20 mL peripheral blood for BCR-ABL1 quantification and post-transplant chimerism analysis). To ensure RNA integrity samples should be received within 24 hours of collection. For monitoring of residual disease by RT-PCR, samples should be received in the laboratory on the day of collection. Aged samples (>48 hours) may be rejected, especially if BCR-ABL1 quantification is requested, as tests may not be reliable in such cases.

Solid tumour

For Next Generation Sequencing, please send 2 H&E stained slides and 8 unstained slides with the tumour area marked clearly on the stained slide and the % tumour assessment clearly stated on the request form.

All slides for molecular testing should be mounted on charged slides

Slides must be 10x 4µm thick sections (multiple sections per slide, as will fit). H&E stain sections 1 and 10

Unstained slides should be dried at 37oC for a minimum of 1 hour, or up to overnight before being transported to the GLH

For FISH testing – please cut 2µm thick sections (maximum 2x separated sections per slide). H&E stain section 1

For any other tests please send 2 unstained 4µm slides per test

Whole genome sequencing (WGS)

Please contact the laboratory at Cambridge for further advice and support on geneticslaboratories@nhs.net

Printable sample requirements sheet to be added