The NAC is the world's largest and only centre in the UK specialising in diagnosis, research and management of amyloidosis and hereditary systemic autoinflammatory diseases (SAIDs).
Head of Service
Dorota Rowczenio PhD FRCPath
The Jack O’Neill Laboratory of Amyloidosis Research and Diagnosis at the NAC provides a comprehensive molecular diagnostic service for hereditary amyloidosis and systemic autoinflammatory syndromes (SAIDs). Our SAIDs and hereditary amyloidosis next generation sequencing (NGS) gene panels consist of up to date clinically relevant genes, as determined by our highly specialised clinical consultants.
The testing our laboratory performs is listed in the 2020/2021 National Genomic Test Directory:
- For hereditary systemic amyloidosis the clinical indications ID is R204
- For autoinflammatory syndromes (previously described as fever syndromes) the clinical indications ID is R15 (this is currently listed in the Primary immunodeficiency)
For carrier, predictive testing or screening of a single gene we recommend the Sanger sequencing method. For testing of a wider range of genes, in particular for patients with suspected SAIDs, we recommend our NGS gene panel. The NGS libraries are sequenced on the Illumina MiSeq platform. The sensitivity of both panels is sufficient to detect somatic variants (<10% of the minor allele frequency). This has enabled us to identify acquired mutations, in particular in patients with SAIDs.
Information for Users:
The Jack O'Neill Amyloidosis Laboratory is open from 9am - 5 pm Monday to Friday.
Reception desk is open from 9am - 5 pm Monday to Friday.
For sample shipment, we recommend you to use special delivery during weekdays to avoid sample deterioration.
All samples must be sent to the following address:
National Amyloidosis Centre
Division of Medicine
University College London Medical School
Royal Free Campus
Rowland Hill Street
London NW3 2PF
- 2-5 ml whole EDTA blood or a minimum of 50µL DNA sample.
Sample Rejection Criteria:
- If the details on the sample do not match those on the request form or the sample is unlabeled it will be rejected.
Sample Acceptance Criteria:
- Sample must be clearly labelled with patient’s full name and date of birth.
- All samples must be accompanied by clinical information i.e. completed electronic questionnaire (see below, Sequencing Request section)
Genetic Testing Limitation:
- Inadequate or poor sample quality may not be sufficient for the laboratory to perform the test in such a case we will contact the referring laboratory to provide a new sample
Requesting a genetic test
In order for our genetic team to process the sample, please register and complete the on-line request form using the link provided below. If you encounter any problems accessing this site please contact the Genetic Secretary, Melanie Fuller, Tel +44 (0)20 7433 2830.
We ask you to provide patient's clinical symptoms. This information is vital while making decisions on genotype-phenotype correlations.
Step 1: Click on the Sequencing Request button, you will be asked to register or login:
Step 2: Enter the patient’s details and select and complete one of two questionnaires (SAIDs or hereditary amyloidosis) indicating if a single gene testing or the gene panel analysis should be applied when processing the sample.
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 test is completed; generally in 4-6 weeks for Sanger sequencing, and up to 12 weeks for NGS gene panel request.
In case of an urgent test please contact the Head of the Genetics Lab Dorota Rowczenio
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, where details have been provided, at the time of issue.
Please contact our genetic secretary Melanie Fuller if you have not received a genetic report. Please note, it is our policy not to issue verbal results. Reports are either sent by Royal Mail or can be emailed to the referring clinician/laboratory confidential nhs.net account. Requests for copies of reports on the day that your patient is in clinic cannot normally be accommodated; we usually require at least 24 hour notice.
Charges for genetic request may occur (outside of England). Unless exempt, the following fees will be implemented: £150 for carrier and predictive testing of known mutations; £400 for screening of a single gene using the Sanger sequencing method; £700 for NGS gene panels for hereditary amyloidosis or SAIDs. You will be requested to provide a purchase order number. Please contact the genetic/pathology secretary for more information Melanie Fuller.
For any technical questions regarding the DNA testing please contact Dr Dorota Rowczenio Tel +44 (0)20 7433 2760.
Predictive genetic testing and clinical advice
Any clinical advice, also including predictive genetic testing in asymptomatic individuals (for example, family screening), must be discussed with one of our consultant staff. Please contact Professor Helen Lachmann.
Protection of Personal information:
All laboratory staff complete UCL and Royal Free London NHS Foundation Trust, mandatory training in the following topics:
- Information Security
- Fraud and Security
- Information Governance
As part of its commitment to quality, the National Amyloidosis laboratory participates annually in the external quality assurance schemes for Systemic Autoinflammatory Diseases, DNA sequencing NGS run by the European Molecular Genetics Quality Network (EMQN). 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, Hadija Trojer.
See the National Amyloidosis Centre Overview for more in depth information on our services and The Registry of 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.
List of genes in the Autoinflammatory and Amyloid Panel
caspase recruitment domain family member 14
ADA2, previous gene symbol CECR1
interleukin 1 receptor antagonist
interleukin 36 receptor antagonist
MEFV, pyrin innate immunity regulator
NLR family CARD domain containing 4
NLR family pyrin domain containing 12
NLR family pyrin domain containing 3
nucleotide binding oligomerization domain containing 2
OTU deubiquitinase with linear linkage specificity
phospholipase C gamma 2
proteasome subunit beta 8
proteasome subunit beta 4
proteasome subunit beta 9
proline-serine-threonine phosphatase interacting protein 1
RANBP2-type and C3HC4-type zinc finger containing 1
SH3 domain binding protein 2
solute carrier family 29 member 3
TNF alpha induced protein 3
TNF receptor superfamily member 1A
transmembrane protein 173
ubiquitin like modifier activating enzyme 1
List of Genes in the Hereditary Amyloidosis NGS Panel
Amyloid P component, serum
APCS, synonym SAP
Serum amyloid A1
Serum amyloid A2
Serum amyloid A4
fibrinogen alpha chain
leukocyte cell derived chemotaxin 2
myeloid differentiation primary response 88
transforming growth factor beta induced
TGFBI, synonym BIGH3
Oncostatin M Receptor