Request Genetic Test
Guidance on requesting a genetic test, including sample requirements, submission details, and reporting timelines.
How to submit a request
Please complete the online request form. You will be asked to login or register.
Enter the patient’s details, then select and complete ONE of two questionnaires (SAIDs or hereditary amyloidosis) indicating if a single gene testing or the NGS gene panel analysis should be applied when processing the sample.
For carrier, predictive testing, or screening of a single gene, we recommend the Sanger sequencing method. For testing of a wider range of genes, especially for patients with suspected SAIDs, we recommend our NGS gene panel. (More about our testing.)
Please save your work at each stage of completing the forms to avoid losing your entries. Once completed, print the form to accompany the sample.
The sample: what we need
- 2-5 ml whole EDTA blood or a minimum of 50µL DNA sample.
- This must be clearly labelled with the patient’s full name and date of birth.
- This must be accompanied by a printed copy of the completed electronic questionnaire.
- Details must match across the label and the request form, otherwise it will be rejected.
If the sample is not sufficient for the laboratory to perform the test, we will contact the referring laboratory for a new sample.
The sample: where to send it
Post the blood/DNA sample and a printed copy of the patient request form to:
SPECIMEN RECEPTION
National Amyloidosis Centre
Royal Free London NHS Foundation Trust
Pond Street,
London
NW3 2QG, UK
You will receive an email acknowledging receipt of the samples.
The sample: when to send it
Our lab and reception desk are open Monday-Friday, 9am-5pm. For sample shipment, we recommend using special delivery during weekdays to avoid sample deterioration.
Turnaround times
We comply with the NHS Turnaround Time of up to 42 days for both Sanger and NGS gene panel requests.
All reports are emailed to the referring clinician/laboratory confidential nhs.net account, provided details are provided when requesting the test. Please check with your Pathology or Genetics Laboratory for copies of reports before contacting the National Amyloidosis Centre.
Requests for copies of reports on the day that your patient is in the clinic cannot normally be accommodated. As standard, we require at least 24-hour notice.
For more information on genetic test request, please refer to the user guide:
Contact details
If there are problems accessing the Sequencing Request site [nacgenetics.org], please contact Melanie Fuller, Genetic Secretary (melanie.fuller@nhs.net; Tel +44 (0)20 7433 2830).
If you need an urgent test results or interpretation, please contact Dorota Rowczenio, Head of the Genetics Lab (dorota.rowczenio@nhs.net).
If you have not received a genetic report, please contact Melanie Fuller, Genetic Secretary (melanie.fuller@nhs.net; Tel +44 (0)20 7433 2830).
Changes to methods
The performance of our methods is under constant review to ensure that we continue to provide a high-quality service. Occasionally we will change our method as part of the quality improvement. When we change methods, details of the change will be made on the patient reports.
Also, our users may be notified via email, multidisciplinary team meetings or in a letter depending on the change.
Please note, our policy is not to issue verbal results.