You can search for a test via:

• The Willink Laboratory pages for Willink tests
• Searching through specific disease pages
• Using the search bar at the top of the page

Download our Genetic Testing Request form and return with appropriate sample to MCGM. Please refer to individual test pages for sample requirements and specific testing forms.

Please ensure that you have provided:

• Patient’s Name
• Patient’s Date of birth
• Patient’s NHS number
• Patient’s Full address and postcode
• Patient’s Gender
• Referring Clinician’s Name
• Referring Clinician’s Hospital and Department
• Referring Clinician’s telephone and fax numbers
• Test required
• Please provide any relevant clinical details
• Please ensure that any high risk samples are highlighted

Please read our acceptance criteria, the required sample types and guidance on transport and delivery before submitting samples for testing.

High risk samples must be clearly labelled as such with the specific risk identified where appropriate.

Please note that a number of tests require specific forms to be completed before testing can be initiated. These include:

• ALK testing
• BRAF testing in melanoma samples.
• BRCA1/2 testing
• EGFR testing
• Huntington Disease testing
• KRAS & BRAF testing in non-melanoma samples
• Lungcarta and Oncocarta testing
• NF1 and NF2 testing
• PIK3CA testing
• Rapid Genome (R14) Test
• Rare disease service testing

Please find further information on our useful forms page or contact us as detailed below.

For diagnostic mismatch repair IHC testing in colorectal cancer cases, please see our Histopathology Laboratory Service.

Step by Step Guide for Non Geneticists in Greater Manchester region to request Rapid Genome (R14)

An R14 genetic test is an urgent genetic test that can be requested for eligible acutely unwell children with a likely monogenic disorder. There are a number of steps to complete the testing request and this guide provides details of the pathway.

1. Check eligibility of your patient

• Majority of patients will be in NICU/PICU
• Clinical features and/or non genetic investigations are pathognomonic of a single gene disorder
• No biochemical test is available and molecular testing is required urgently to guide management
• Patients with acute developmental regression/Neurodegeneration that might be due to a treatable underlying condition.
• Early onset or syndromic epilepsy that is difficult to control (child may not be in PICU/NICU)
• On occasion an R14 test may be appropriate for an adult on intensive care or with an acute presentation highly suggestive of a monogenic disorder where a molecular diagnosis would guide their immediate clinical management
• R14 may also be offered to families where there is a current pregnancy at risk of the same undiagnosed rare disorder in an affected family member (e.g. sibling), for which the couple would consider prenatal testing or the immediate postnatal management would be changed by a genetic diagnosis

2. Liaise with Manchester Clinical Genetics

• Contact the Clinical Genetics Department at Saint Mary’s Hospital in Manchester by
  • Ring 0161 276 6506 and ask to speak to on call registrar
• Arrange an urgent referral via the MFT EPR, HIVE or email
• This step must be completed before contacting Exeter laboratory

3. Contact Exeter R14 team

• rduh.exeterexome@nhs.net. Cc e mail to mft.genomics@nhs.net

4. Inform Genomic Laboratory of outcome of Exeter decision

• Approval e mail received from Exeter R14 team copied to mft.genomics@nhs.net

5. Discuss with family

• This leaflet might be helpful R14 Patient Information Leaflet
• Ideally require trio participation – DNA samples from child with both parents to increase chance of making a diagnosis.

6. Complete R14 Record of discussion forms

• one ROD form for each individual – forms are located here.
• This is to be filed in the patient’s medical record once completed

7. Arrange EDTA samples for child and both parents

• 1-2ml EDTA from child, 4 ml EDTA from adults
• Samples should be sent to the Manchester Genetics Laboratory

North West Genomic Laboratory Hub – Manchester Site
St Mary’s Hospital
Hathersage Road
Manchester
M13 9WL

Tel: 0161 276 3269

• This is via the usual route used by your hospital

8. Complete the test request form:

• Rapid WGS Test Request Form
• The form should be completed electronically rather than handwritten
• Please provide as much clinical detail as possible and if a particular diagnosis is suspected.

9. Reply to the acceptance e mail from Exeter

• Please reply to the acceptance e mail from Exeter
• attach the completed test order form
• The e mail MUST be copied to mft.genomics@nhs.net and the Clinical Geneticist with whom the case was discussed.
• This is to ensure that both laboratories are aware of the referrals and are able to prioritise the sample processing.

10. Preliminary result returned to the referring clinician and the clinical geneticist in two weeks
11. Formal report received thereafter

Further information re R14 testing is available at https://www.exeterlaboratory.com/genetics/genome-sequencing/

The Willink Metabolic Unit has a request form (download our Willink Request Form) but will accept requests for tests written on other request forms or by letter from the referring doctor, provided that all the relevant information is given.

The information given should include:

• Patient name in full
• Identification number e.g. hospital number or NHS number
• Date of Birth
• Gender
• Consultant or referring doctor’s name
• Name and address to where reports should be sent
• Date and time of specimen
• Date and time of sending sample

Specimens sent from another laboratory must be identified with the referring laboratory number, which should also be on the request form.