Centre for Amyloidosis and Acute Phase Proteins


Molecular Genetic Testing

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).

The Jack O’Neill Laboratory of Amyloidosis Research and Diagnosis at the NAC provides a comprehensive molecular diagnostic service for hereditary amyloidosis and 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.

Key staff
Head of ServiceDorota Rowczenio PhD FRCPathdorota.rowczenio@nhs.net
Quality ManagerHadija Trojerhadija.trojer@nhs.net
Genetics/Pathology SecretaryMelanie Fullermelanie.fuller@nhs.net

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 prepared using the TruSeq Custom Amplicon method and sequenced on the Illumina MiSeq platformThe sensitivity of our SAIDs panel is sufficient to detect somatic variants (<10% of the minor allele frequency). We have lately identified numerous patients with late onset SAIDs due to acquired mutations.

In order for our genetics team to process the sample, please register and complete the on-line questionnaire using the link provided below.  Our web link contains all the information needed to complete the application form prior to genetic testing.

Charges are £150 for carrier and predictive testing of known mutations, and £400 for screening of a single gene using the Sanger sequencing method.  NGS gene panels for hereditary amyloidosis or SAIDs are £700.  You will be requested to provide the purchase order number.

Our laboratory takes part in the European Molecular Genetics Quality Network (EMQN) External Quality Assessment (EQA) scheme for Hereditary Recurrent Fevers (HRF).

For any technical questions regarding the DNA testing please contact Dr Dorota Rowczenio tel  +44 (0)20 7433 2760.

Requesting a test

To request molecular genetic screening the physician should follow the steps below.  Before requesting a genetic test please ensure either EDTA blood or DNA sample is clearly labelled with full name and date of birth.

Step 1:  Select the following site where you will be asked to register or login:

Sequencing Request

Step 2:  Enter the patient’s details and select and complete one of two questionnaires (hereditary fever syndromes or 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 tests are completed and checked, generally in 4-6 weeks for Sanger sequencing, and up to 12 weeks for the next generation gene panel request.

If you encounter any problems accessing this site please contact the Genetics Secretary, Melanie Fuller, tel +44 (0)20 7433 2830; fax +44 (0)20 7433 2817.

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 Philip Hawkins or Dr Helen Lachmann.

Requests for test results

Current turnaround time is 6-8 weeks.  In case of an urgent test please contact the head of the Genetic Lab (Dorota Rowczenio) or the Genetics Secretary (Melanie Fuller).  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 Genetics 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.

Quality assurance

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, 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 Systemic Autoinflammatory Diseases (SAIDs) NGS Panel

Gene NameGene SymbolChromosomal Location
caspase recruitment domain family member 14CARD1417q25.3
adenosine deaminaseADA2, previous gene symbol CECR122q11.1
interleukin 1 receptor antagonistIL1RN2q14.1
interleukin 36 receptor antagonistIL36RN2q14.1
lipin 2LPIN218p11.31
MEFV, pyrin innate immunity regulatorMEFV16p13.3
mevalonate kinaseMVK12q24.11
NLR family CARD domain containing 4NLRC42p22.3
NLR family pyrin domain containing 12NLRP1219q13.42
NLR family pyrin domain containing 3NLRP31q44
nucleotide binding oligomerization domain containing 2NOD216q12.1
phospholipase C gamma 2PLCG216q24.1
proteasome subunit beta 8PSMB86p21.32
proteasome subunit beta 4PSMB41q21.3
proteasome subunit beta 9PSMB96p21.32
proline-serine-threonine phosphatase interacting protein 1PSTPIP115q24.3
SH3 domain binding protein 2SH3BP24p16.3
TNF receptor superfamily member 1ATNFRSF1A12p13.31
transmembrane protein 173TMEM1735q31.2
TNF alpha induced protein 3TNFAIP36q23.3

List of Genes in the Hereditary Amyloidosis NGS Panel

Gene NameGene SymbolChromosomal Location
Amyloid P component, serumAPCS, synonym SAP1q23.2
Apolipoprotein EAPOE19q13.32
Apolipoprotein A4APOA411q23.3
Apolipoprotein A1APOA111q23.3
Apolipoprotein A2APOA21q23.3
Apolipoprotein C2APOC219q13.32
Apolipoprotein C3APOC311q23.3
Serum amyloid A1SAA111p15.1
Serum amyloid A2SAA211p15.1
Serum amyloid A4SAA411p15.1
C-reactive proteinCRP1q23.2
fibrinogen alpha chainFGA4q31.3
Cystatin CCST320p11.21
leukocyte cell derived chemotaxin 2LECT25q31.1
myeloid differentiation primary response 88MYD883p22.2
transforming growth factor beta inducedTGFBI, synonym BIGH35q31.1
immunoglobulin kappa constantIGKC2p11.2