Sample requirements and transport

• For the majority of molecular genetics analysis tests, blood samples in EDTA tubes (2 x 4ml for adults, 2-5ml for children and 1-2ml for neonates) is required.
• Cytogenetic analysis, for example karyotyping or Fluorescent in situ hybridisation, a blood sample in Lithium Heparin (2-5ml for adults/children and 1-2ml for neonates) is required.
• Testing for facioscapulohumeral muscular dystrophy requires a larger volume of blood – minimum of 8ml in EDTA tube is requested

• These should be sent in transport media. If you require this please contact the laboratory. Please see the guidance for Solid Tissue Biopsy pages. 
• Amniotic fluid and chorionic villus samples should be transported to the laboratory urgently and should not be refrigerated.

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Please send a minimum of 5μg of DNA. DNA samples can be sent at room temperature.

FFPE sample obtained at biopsy or surgical resection, or from cytology samples

• Gene panel and direct mutation tests will be performed on FFPE samples obtained at biopsy or surgical resection, or from cytology samples
• Samples should be prepared by the local Pathology lab and forwarded to the SWGLH with minimal delay.
• The Pathologist’s assessment of neoplastic cell content of the sample is essential to ensure suitability for genomic testing.
• Sample requirements as follows:
  • For DNA or RNA extraction only
    • Sample with >20% neoplastic cells: send one tube (Eppendorf or Universal): containing 5 x 10µm sections (curls/scrolls)
    • OR Sample with <20% neoplastic cells: send 10 x 5µm slide mounted sections along with H&E with regions of >20% neoplastic cells highlighted.
  • For DNA and RNA extraction
    • Sample with >20% neoplastic cells: send two tubes (Eppendorf or Universal): each containing 5 x 10µm sections (curls/scrolls)
    • Sample with <20% neoplastic cells: send 20 x 5µm slide mounted sections along with H&E with regions of >20% neoplastic cells highlighted.
  • For FISH
    • Please send 2 x 4µm and 2 x 2µm sections on ‘APES’ or ‘sticky’ slides per test required with an accompanying H&E slide with the appropriate tumour rich area(s) marked.
• Indication M4.5 Blood samples for circulating tumour DNA analysis should be sent directly by the referring clinician to the Bristol Genetics Laboratory.

For further guidance, please see the guidance at the bottom of the page.

• DNA-based specimen identity testing may be used at Exeter Genomics Laboratory for the identification of samples of uncertain origin, mixed-up specimens and “floaters” in paraffin blocks. DNA-based specimen identity testing is performed using the PowerPlex 16 System (Promega).

Instructions for this type of sample are slightly different. Please see the relevant subpage here:

In special circumstances, a saliva sample may be acceptable. This will need to be discussed with the appropriate team to agree the process needed.

Please contact the laboratory if sample collection kits and/or instructions for collection are required (Oragene).

• Blood samples should be received by our laboratory within 5 days of venesection.
• For inherited cancer testing, blood should be sent to the SWGLH to arrive within 1-3 days of sample collection.
• For samples requiring RNA analysis there is a 72 hour cut-off for receipt of samples as reliable quantitation is not possible from follow-up samples older than 72 hours. Samples received that are older than 72 hours will not be processed and a repeat sample will be requested.
• Amniotic fluid and chorionic villus samples should be transported to the laboratory urgently.

• Do not freeze blood samples – if storage is required prior to dispatch, blood samples can be stored at 4ºC (39.2ºF).
• Amniotic fluid and chorionic villus samples should be transported urgently and should not be refrigerated.
• For inherited cancer testing, blood samples should be kept at room temperature or at 4oC and not be frozen before dispatch.

• Blood samples should be transported at ambient temperature.
• For inherited cancer testing, blood samples should be kept at room temperature or at 4oC and not be frozen before dispatch. They should be sent to the SWGLH to arrive within 1-3 days of sample collection.
• Amniotic fluid and chorionic villus samples should be transported to the laboratory urgently and should not be refrigerated.

If the sample is known to be high risk this should be handled with care.

This includes blood samples from patients who may be positive for the Hepatitis B antigen, HIV, infectious hepatitis, or who are jaundiced without obvious cause. Blood from febrile, undiagnosed patients, must also be handled carefully, especially if they have recently returned from travel overseas.

Please contact the laboratory in the first instance for advice.

When submitting these samples for laboratory investigations, forms and sample bottles must be clearly marked with a warning sticker. The samples must be sealed within two plastic bags, and the accompanying form must not come into contact with the sample.

The minimum labelling requirements for the sample container are:

• Full Name (forename and surname)
• One other unique identifier (Date of Birth/Unit No./NHS No.)
• The request form must also include the same identifiers

In addition the request form should include the following information:

• Patient Forename
• Patient Surname
• NHS Number
• 1st Line of Patient Address
• Patient Postcode
• Patient Date of Birth
• Referrer Name (surname and first initial)
• Referrer Facility
• Hospital Number (if applicable)
• National genomics test directory clinical indication code e.g. R53 Fragile X
• Full clinical details of the patient being tested
• Secure email address for return of reports
• Date and time sample was collected

For Non NHS England referrals please also provide billing information including any purchase order references.

1. The sample should be wrapped in enough tissue to absorb the entire contents of the tube in the event of a breakage.
2. Seal the tissue with tape and place it into a specimen bag and seal
3. Please place this in a transparent sample bag
4. Samples should then be placed in a sample box or padded envelope along with a copy of the referral information/paperwork attached, but not in the same compartment as the container
5. The outer sample packaging must comply with official standards, which are known as the ‘PI 650 for category B substances’.
6. The package should be clearly labelled ‘diagnostic specimen UN3373’.
7. Please also mark the packaging with ‘Pathological Specimen – Fragile With Care’.

For more advice, please see Packaging and transport requirements for patient samples – UN3373 on the Department of Transport website.

Please note: Blood samples in glass bottles are not accepted by the laboratory.

Important: please make sure you use the right colour bag before sending

Blue bag: for Haematology samples only

Blue sample transport bags are provided to Haematology departments.

If you are sending samples to Bristol Genetics Lab from a haematology department, please use a blue bag!

Green bag: for Histopathology samples (and others where specified)

Green sample transport bags are provided to Histopathology departments.

If you are sending samples to Bristol Genetics Lab from a Histopathology department, please use a green bag!

Other departments (excluding Haematology) may also send samples to Bristol Genetics Lab using green transport bags, e.g. Immunology and Biochemistry.

If you need to order more sample transport bags please email: SWGLHenquiries@nbt.nhs.uk

For the majority of routine priority specimens, Royal Mail can be used. For urgent specimens where there is no inter site transport it is recommended that an approved courier service be used.

The below guidance will help you with sending samples. Please check your individual test page/sample form to find out which laboratory your sample should be addressed to.

For Rare Disease tests please send the sample to your nearest Genetics Laboratory (in the South West this will be Bristol genetics Laboratory or Exeter Genomics Laboratory.

Please note all samples for the R14 (Rapid Whole Genome Sequencing) need to go to Exeter Genomics Laboratory.

I am based North of the region (Gloucestershire Royal Hospital to Weston General Hospital)

For NHS Trusts based in the north of our region (Gloucestershire Royal Hospital to Weston General Hospital) there is inter site transport, please contact your Pathology Logistics Lead for information.

I am based in the South of the region

For Trusts in the south of the region, Bristol Genetics Laboratory use the Cervical Screening (HPV) Transport service provided by DDL.

Who can I contact for help?

If you have any enquiries please contact: SWGLHenquiries@nbt.nhs.uk

Where do I send samples to?

Please address samples to:

Bristol Genetics Laboratory

Pathology Sciences Building

Southmead Hospital

Westbury-On-Trym

Bristol

BS10 5NB

Who can I contact for help?

If you have any enquiries please contact:

Where do I send samples to?

Exeter Genomics Laboratory

Level 3 RILD building

Royal Devon & Exeter NHS Foundation Trust

Barrack Road

Exeter