Eligibility criteria for the rare diseases can be found in the National Genomic Test Directory (NGTD)

• The Rare Disease tests are performed at both Bristol and Exeter laboratories dependent on the type of test request, as defined below.

Rare Disease Laboratory Tests

• Please ensure that the patient's identity is verified prior to taking the sample. 
• Most genomic tests can be performed on peripheral blood samples collected into EDTA tubes.
  • Please send 2 x 4ml for adults, 2-5ml for children and 1-2ml for neonates. 
  • For cytogenetic analysis, for example karyotyping of Fluorescent in situ hybridisation, a blood sample in Lithium Heparin (2 x 4ml for adults, 2-5ml for children and 1-2ml for neonates) is required.
  • 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.
  • 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 (FSHD) requires a larger volume of blood - minimum of 8ml in an EDTA tube is requested.
• In special circumstances, a saliva sample is acceptable. Please contact the SWGLH for saliva sample collection kit. For other diagnostic material, including extracted DNA (5µg minimum) or paraffin embedded blocks, please contact the SWGLH, details below
• We recommend that clinicians follow local Trust policy regarding consent for rare disease diagnostic testing.

•  All samples for rare disease genomic testing should be accompanied by a fully completed request form
• The request form should include as much clinical information about the patient or family member, family relationships and the requested test code (R number).
• The Electronic request form is for use for the majority of Rare Disease clinical indications. It may also be used for phlebotomy and requests for DPYD.

•  In most cases, samples and request forms will be sent by clinicians to their local Pathology reception before dispatch to one of the SWGLH using the using Pathology intersite transport services ​
• Samples may also be posted by Clinical teams or by local Pathology services by first class or courier
• Packaging should comply with UN3373 regulations for packaging and transportation of samples:
  • The sample should be wrapped in enough tissue to absorb the entire contents of the tube in the event of a breakage.
  • Seal the tissue with tape and place it into a specimen bag and seal.
  • Samples should then be placed in a sample box or padded envelope with the request form and the package marked ‘Pathological Specimen – Fragile With Care’
• See the sample requirement and transport pages for further details

• The GLH network aims to report rare disease genomic test results according to national guidelines:
  • Target Turnaround Times Table.
• Clinically urgent tests will be prioritised. Please note the reason for urgent testing on the request form and contact the laboratory by e-mail to notify requests in advance for prenatal diagnosis.

• Eligible tumours and the available tests are shown in the National Genomic Test Directory for Cancer (NGTD) Only tests specified by the National Genomic Test Directory are funded, please note the M-code for the required investigation. 
• Genomic testing for tumours is rapidly advancing. The SWGLH is implementing new technologies such as a large gene panel test that detect single nucleotide changes, copy number changes, and gene fusions. The strategy aims to provide timely results for multiple tumour types that are relevant for clinical care and entry into trials.

• Please ensure that the patient's identity is verified prior to taking the sample.
• 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.  

  SWGLH ctDNA Request Form.doc73.5 KB
• Further information in the form of SWGLH guidance documents for Clinician's and Pathologists can be found in the blocks at bottom of this page

•  In the instance of a Sarcoma please use this request form  

  SWGLH- Sarcoma Genomics Test Request Form v2.docx65.72 KB
• All samples for genomic testing for non-haematological tumours should be accompanied by a fully completed SWGLH form

• For  neuropathology requests please complete this request form

• The M-code should be included to identify which test is required.
• The request form should clearly state who the report should be sent to. Reports will be issued by email. Multiple email addresses may be included (e.g. the referring clinician, pathologist, and MDT coordinator)
• The request should be sent to your local Pathology lab to activate the preparation of samples for genomic testing.

•  As soon as possible after local processing and assessment, samples should be transported rapidly to the SWGLH Bristol Genetics Laboratory using one of the rapid transport routes that have been established from all SW Trusts
• Please refer to the SWGLH Sample Requirements and Transport page for further information

• We aim to report gene panel tests within 7-10 working days of sample receipt at the SWGLH to help ensure that results available to clinicians to guide selection of treatment for cancer.
• When special circumstances require a more urgent result, a rapid single gene test may be performed instead of a gene panel. Clinicians or Pathologists should contact the Bristol Genetics laboratory directly to access this service.

What is changing?

We’re introducing online letters for appointments at North Bristol NHS Trust this autumn. This means when you’re given an appointment at our hospitals, you’ll receive a text message or email with a secure link to view your appointment letter online instantly. 

If you haven’t given us a mobile phone number or email address, you’ll continue to receive paper letters.

Why are online letters for appointments being introduced?

We know how important it is that you receive details about your visit to hospital quickly and easily.

By giving you the option to view your appointment letters online, you can access your appointment information sooner on your smartphone, tablet or computer, even if you’re away from home.

If you’re able to view your appointment letters online, this helps our trust reduce the cost and environmental impact of posting paper letters.

When are online letters for appointments being introduced?

Patients will be able to begin viewing their appointment letters online for vascular, dietetics, respiratory physiology and pain management clinics in October. This option will be made available for clinics in more services in the near future.

I want to continue receiving paper letters, is this possible?

Yes, paper letters will still be available for patients who prefer to receive their appointment letter by post, and for those who haven’t given us a mobile phone number or email address.

You can tell us if you want to receive paper letters for your appointment by:

• Replying with ‘PRINT’ to any text messages about your appointment. This will update your letter preferences so that you will receive paper letters for future appointments.
• Managing your contact preferences in our online portal. To do this, login at nhs.my/nbt, go to the 'Settings' tab in the top right-hand corner. Under ‘Letter Settings’ change the option ‘View your appointment letters online?’ to ‘No’.

What happens if I don’t view my appointment letter online?

We want to ensure that all patients receive the information they need to attend their appointment. If you don’t view your appointment letter online, we will automatically send you a paper letter.

Does this affect all letters I receive from North Bristol NHS Trust?

No. Currently, we are only introducing online letters for when you’re given an appointment. Other letters about your care will continue to be posted to you.

I’m having difficulty viewing my appointment letter online, what should I do?

Please be reassured that if you don’t view your appointment letter online, we will automatically send you a paper letter.

You can also contact North Bristol NHS Trust on 0300 555 0103 to request a paper copy of your letter.

I’ve received a text message with a link to my appointment letter, but I don’t have a smartphone or regular access to the internet. What should I do?

If you don’t have a smartphone, but you want to view your appointment letter online, you can do this on another device which has an internet browser, for example a computer or tablet. To do this:

1. Go to the web address nhs.my/nbt and login with your personal information.
2. You will be asked to verify your mobile phone number and enter a code which will be sent by text message to your phone.
3. Once logged-in, click ‘Letters’ and select ‘View Letter’ for the letter you want to open.
4. Your letter will automatically download so that you can open and view it.
5. You may be asked if you want to update your letter preferences to view your appointment letters online in future if you’d prefer.

If you want to receive paper letters instead of viewing your appointment letter online, you can reply to text messages from North Bristol NHS Trust with ‘PRINT’ to update your letter preferences for future appointments.

We will automatically send you a paper letter if you don’t view your appointment letter online.

I’ve given you a temporary address, which postcode should I log-in with to view my letter online?

Please use the postcode from your temporary address to log-in and access your letter.

I’m a carer, can I access appointment letters for the person I care for online?

Yes, if you’ve arranged for your contact information to be added for the person you care for, you will be contacted when an appointment letter for them is available to view online. You should log-in to view the letter with the patient’s information.   

I want to receive paper appointment letters, but still receive appointment reminders by text message or email, is this possible?

Yes, you can opt out of viewing your appointment letters online but this will not affect you receiving reminders for your appointment by text message or email. There is a separate opt-out process to stop receiving appointment reminders.

If you've given us with your mobile phone number or email address, you will now receive a text message or email confirming an appointment when it is booked for you. This confirmation will be followed by reminders before your appointment. 

Text messages will come from +44 7860 039 092. This number is genuine and not a scam. 

To opt-out of receiving future appointment confirmations and reminders by text, you can reply with 'STOP'. 

You can also choose to receive your appointment information by text and/or email by updating their preferences for each NHS Trust through the DrDoctor portal at nhs.my/nbt. 

We may also contact you by text message or email about unforeseen changes or cancellations to your appointment, or in the event of a major incident at the hospital.

If you’re registered with a GP in England, you can view your appointment information and receive notifications from the NHS App. 

You will need to download the NHS App, check your email address and phone number are correct and enable push notifications.  

There are some specialist clinics that do not appear in the NHS App. For these clinics, we will continue to contact you about your appointment in the usual way: 

• Burns Care
• Transient Ischaemic Attack
• Clinical Psychology
• Fracture clinic for Trauma and Orthopaedics
• Cardiac Rehab
• Rheumatology RTC clinics
• Care of the Elderly Rapid access clinics
• Dietetics Coeliac group clinics
• Midwifery diabetes clinics 

You may receive a text message or email inviting you to complete an online questionnaire about your care. Text messages will come from +44 7860 039 092. This number is genuine and not a scam. 

The message will contain a link to a secure webpage where you will be asked to answer some questions.  

The questionnaire may be short, asking you for a “yes”, “no” or “unsure” answer, or more detailed with multiple questions asking you to explain how you are managing your condition to inform your care. 

It will not affect your appointment or care if you’re unable to complete the online questionnaire. 

Our video consultation service allows you to have a video call with your healthcare professional as an alternative to a face-to-face appointment, where medically appropriate.

When you are invited to a video consultation, you will receive a text message or email with a direct link to your video appointment. You will receive this message 1-2 hours before your appointment time.

If you have any questions about your appointment, please call the number provided in your appointment letter.

If you are interested in having video consultations, please speak to the team involved in your care.

What to expect

• A video consultation runs in the same way as a face-to-face appointment but through your mobile device or computer.
• When you are invited to a video consultation, you will receive a letter with the date and time of your appointment. The letter will also ask you to confirm we have the correct UK based mobile number for you.
• You will receive a direct link to your video appointment by text message or email 1-2 hours before your appointment time.
• Please follow the link and log in to the portal 10 minutes before your appointment time to familiarise yourself with platform.
• Please be aware that clinics may still run late.
• When you follow the link to your video appointment, the button to 'Join the call' will be inactive until 1 hour before your appointment time. You will then be able to join the video consultation.
• All text messages will come from +44 7860 039 092. This number is genuine and not a scam.

To get the most from your video consultation, we ask you to:

• Ensure you have access to a laptop or desktop computer, smartphone, or tablet.
• The video consultation portal works in Chrome, Safari and Edge internet browsers. Please note the portal does not work in Internet Explorer.
• Find a quiet area of your home to have the video call.
• Have your questions ready, as you would do at a face-to-face appointment in hospital.
• Be available for up to 45 minutes after your appointment time in case the clinic is running late.​

DrDoctor is a secure communication platform used by North Bristol NHS Trust (NBT) to communicate with our service users digitally, schedule appointments and provide important healthcare information.

You can check and update the mobile phone number and email address used to receive appointment information to through the NHS App, your GP or when you visit the hospital. 

Please do not update your contact details through the DrDoctor Portal as it will be overwritten with the information for the NHS digital information from the NHS App, your GP, and the hospital. You should also provide your updated details to the reception of the department you are visiting. 

DrDoctor adheres to strict privacy and security standards to protect your information and your data is only accessible to authorised healthcare professionals involved in your care.

Under UK law, you have the right to object to how your personal data is used for specific purposes. This means you can request your data not be used for certain reasons or activities.  

Please note you cannot object solely to the means or methods used to process your data, such as our preferred communication platform called DrDoctor and we are using the data to support your care.

If you choose to opt out of any of the reminders and notifications from DrDoctor, you will not receive any reminders from any service using DrDoctor. When your next appointment is arranged, you will automatically be opted in again as we are using this data to support your care. 
If you have previously used someone else's number on your healthcare record, they will receive communications regarding your care.

Important health notifications

We are committed to keeping you informed and ensuring your health and safety. As part of this commitment, we may contact you via direct SMS/text message through the DrDoctor Patient Engagement Portal to share important public health information. This could include updates on matters such as outbreaks of notifiable diseases (e.g. measles) or other health-related alerts that may affect you.

These messages are sent in line with our duty to protect public health. Our aim is to provide timely, accurate information while respecting your privacy.

Your personal information will only be used for essential communication and will be handled securely in accordance with the UK General Data Protection Regulation (UK GDPR) and the Data Protection Act 2018.

If you have any questions about how we use your information or wish to discuss your communication preferences, please contact us directly.

For more information on our privacy policy and data protection, please visit our Privacy Policy & Data Protection web page.

DrDoctor is a Digital Patient Engagement Platform and our chosen provider for the communication services outlined on this page. We use DrDoctor to help patients stay up to date with communications about their appointments and care using a secure online portal.

Find out more about DrDoctor

Text messages we send through DrDoctor will come from mobile phone number +44 7860 039 092.

This number is safe and secure and will send you text messages from North Bristol NHS Trust, University Hospitals Bristol and Weston NHS Foundation Trust, Sirona Care & Health and Avon and Wiltshire Mental Health Partnership NHS Trust.

Eligible haematological malignancies and the available tests are shown in the National Genomic Test Directory for Cancer (NGTD).

• The NGTD indicates several possible alternative tests for some indications. Regional policy about the best test for each indication is being devised by the SWGLH and the haematological malignancy Cancer Alliance Advisory Groups (CAG)

Where possible, samples for diagnostic or monitoring genomic tests should be collected alongside other samples for the regional Specialist Integrated Haematological Malignancy Service (SIHMDS).

• Please ensure that you verify the identity of the patient prior to taking the sample.
• Bone marrow aspirate is the preferred substrate for Haematological malignancy testing.
• Blood or other tissue may be suitable where sufficient (>20%) involvement is identified e.g. for acute leukaemia with a high circulating blast count. Pleural fluid or other tissue with a malignant infiltrate may also be suitable but should be discussed with the SWGLH, contact information below
• 1-2ml of bone marrow aspirate or 5-10ml of blood collected into EDTA is required for direct mutation, molecular monitoring or gene panel tests
• 1-2ml of bone marrow aspirate or 5-10ml of blood collected into lithium heparin or heparinised media is required for karyotype and FISH

 All samples for genomic testing for haematological malignancy should be accompanied by a fully completed 

Regional BHODS Request Form v3 (nbt.nhs.uk)

You will then need to transport samples and request form to the SWGLH

• To maintain clinically useful test turnaround times, samples should be transported urgently to the SWGLH for processing and testing.
  • 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.
• Samples will usually be sent internally to the local pathology specimen reception and, then onwards, to the SWGLH at the Bristol Genetics laboratory site, using the rapid transport routes that have been established from all SW Trusts.
• Refer to the Sample requirement and Test Pages for this information

Turnaround times (TATs) for genomic tests are continually refined through the ongoing review of testing standards by NHSE, the SWGLH and CAG working groups.

• As a guide, example current TATs are:
  • PML-RARA FISH <24 hours
  • BCR-ABL1 PCR, ALL FISH <3 days
  • Urgent karyotype/FISH <7 days
  • Urgent gene panel, direct mutation tests, CML monitoring <14 days
  • Routine karyotype, FISH, panel <21 days