Molecular Genetic Testing
Genetic screening is a valuable tool in the diagnosis of
hereditary amyloidosis and inherited fever diseases (also called
hereditary autoinflammatory disorders). We provide Sanger sequencing analysis covering many of these
conditions (see table below).
Genetic testing can be requested by physicians prior to referral. This can help with deciding whether to proceed with referral and, as molecular genetic analysis takes several weeks, can help speed up the diagnostic process.
Normally, there will be a charge for genetic testing. This is currently £400 for one gene, £800 for two and £1200 for three or more. We require an invoice address at the time of request.
Requesting a test
To request molecular genetic screening the physician should follow the steps below.
Step 1: Connect to the following site where you will be asked to register or login:
Step 2: Enter the patient’s details and select and complete one of two questionnaires (hereditary fever syndromes or amyloidosis).
Step 3: Once the questionnaire is completed, you will see instructions for specimen collection and posting. Please print the Patient Request Form and post together with the bloods/DNA to Specimen Reception at the National Amyloidosis Centre. You will receive an email acknowledging receipt of the samples. A report will be posted to you when tests are completed and checked, generally in 4-6 weeks.
If you encounter any problems accessing this site please contact the Pathology Coordinator, Mrs Rose Coughlan, tel +44 (0)20 7433 2753; fax +44 (0)20 7433 2817.
Predictive genetic testing
Predictive genetic testing in asymptomatic individuals (for
example, family screening) must be discussed with one of our consultant
Requests for test results
Current turnaround time is at least 6-8 weeks. Please check with your Pathology or Genetics Laboratory for copies of reports before contacting the National Amyloidosis Centre as all reports are copied to the appropriate laboratory, if possible, at the time of issue. Please contact the Pathology Secretary if you have not received a report within 6-8 weeks of your request.
Please note, it is our policy not to issue verbal results or to email reports. Reports are sent by Royal Mail, and can additionally be faxed to a secure number by prior arrangement. Requests for copies of reports on the day that your patient is in clinic cannot normally be accommodated. We usually require at least 24 hours notice in which to fax a copy of a report.
As part of its commitment to quality, the National Amyloidosis laboratory participates annually in the external quality assurance scheme run by the European Molecular Genetics Quality Network (EMQN) for hereditary recurrent fever (HRF). Copies of the results of these external quality assessments are available on request. Currently there is no equivalent scheme for hereditary amyloidosis.
Please help us improve the service and direct compliments and complaints in writing to the Quality Manager, Alison Bybee.
See the National Amyloidosis Centre Overview for more in depth information on our services and The Registry for Hereditary Auto-inflammatory Disorders Mutations for information on hereditary fever genetics or The Registry for Mutations and Phenotypes in Hereditary Amyloidosis for information on hereditary amyloidosis genes.