Sample Requirements and Packaging
- For the majority of molecular genetics analysis tests, blood samples in EDTA tubes (2-5ml for adults/children and 1-2ml for neonates) is required.
- For 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.
- Chorionic villus samples or products of conception should be sent in transport media if you require this please contact the laboratory.
- Testing for facioscapulohumeral muscular dystrophy requires a larger volume of blood - minimum of 8ml in EDTA tube is requested
- 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.
- For other types of sample please contact the laboratory.
If any of the above requirements are not adhered to, this may result in rejection of the sample.
Unless advised otherwise samples should be sent at room temperature. If there is a delay in sending most samples can be refrigerated at +4 degree Celsius for a few days without affecting quality.Amniotic fluid and chorionic villus samples should be transported to the laboratory urgently and should not be refrigerated.
Failure to adhere to this guidance or delays in transit could result in failure of the test.
The sample container should be leak-proof and must be placed in a transparent sample bag with the paperwork separated from the container. The outer sample packaging must comply with PI 650 for category B substances. The package should be clearly labelled 'diagnostic specimen UN3373'.
High Risk Specimens
If the sample is known to be high risk this should be clearly stated on the request form and sample container. Please contact the laboratory with any queries regarding the appropriateness of sending any potentially high risk samples.
Request Form Library
1. The editable request form is for use for the majority of Rare Disease clinical indications. It may also be used for phlebotomy and requests for DPYD.
2. For non-haematological cancers the request forms are:
- Solid tumour
- Circulating DNA
3. Haematological cancers
Bristol Haemato-Oncology Diagnostic Request Form
4. Request forms for Whole Genome Sequencing
- Curated on NHS England Resource Pages
5. Facioscapulohumeral muscular dystrophy (FSHD) Clinical Proforma
6. Combined HNF1B Patient and Clinical Information Sheet
7. Familial Chylomicronaemia (FCS) Genetic Testing Request Form
Sample Labelling and acceptance
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
Please note any samples that do not meet the above requirements may be rejected.
For Non NHS England referrals please also provide billing information including any purchase order references.
It is the responsibility of the clinician to obtain consent for genetic testing and storage. The laboratory assume this has been done upon receipt of the request form and do not check consent has been obtained. Please refer to the guidelines from the Joint Committee on Medical Genetics.
Receipt of the sample and request form establishes an agreement to perform genetic testing.
The following must be clearly stated on the referral form:-
- Test required
- Clinical features
- Relevant family history
- Mother’s details for prenatal testing requests
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.
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.
For the Trusts 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.
For Trusts in the south of the region Bristol Genetics Laboratory is currently validating use of the Cervical Screening Transport service provided by City Sprint.
If you have any enquiries please contact: firstname.lastname@example.org
Please address samples to:
Bristol Genetics Laboratory
Pathology Sciences Building
For Whole Exome Sequencing:
Exeter Genomics Laboratory
Level 3 RILD building
Royal Devon & Exeter NHS Foundation Trust