National Amyloidosis Centre

The National Amyloidosis Centre (NAC) is the only centre in the UK and the largest in the world specialising in diagnosis, management and research in amyloidosis and systemic autoinflammatory diseases (a group of rare monogenic disorders of the innate immune system marked by recurring episodes of fever and inflammation, caused by either germline or postzygotic mutations).

The Jack O’Neill Laboratory of Amyloidosis Research and Diagnosis (JONAL) is embedded within the NAC and provides a comprehensive molecular diagnostic service for both hereditary amyloidosis (transthyretin amyloidosis (ATTR) is the commonest) and systemic autoinflammatory diseases (SAIDs).  The laboratory offers single gene testing, or for a wider range of genes, in particular for patients with suspected SAIDs, we recommend NGS gene panel, which has sufficient depth for detection of low level mosaicism.

The laboratory is accredited to UKAS ISO 15189 standard and as part of its assurance of continuous quality, it takes part in three European Molecular Genetics Quality Network (EMQN) External Quality Assessment (EQA) schemes: for Hereditary Recurrent Fevers (HRF), Germline mutation testing using Next Generation DNA Sequencing and Sanger DNA sequencing.

Consultant staff working in the centre offer clinical advice including predictive genetic testing in asymptomatic individuals (such as family screening).

Advice for physicians on the process for requesting molecular genetic screening can be found on the centre’s website. Further information for referring physicians and appropriate contacts in the centre can be found here.

Information for patients giving an overview of the centre and what to expect from a visit can be read here.

The National Amyloidosis Centre (NAC) is the only centre in the UK and the largest in the world specialising in diagnosis, management and research in amyloidosis and systemic autoinflammatory diseases (a group of rare monogenic disorders of the innate immune system marked by recurring episodes of fever and inflammation, caused by either germline or postzygotic mutations).

The Jack O’Neill Laboratory of Amyloidosis Research and Diagnosis (JONAL) is embedded within the NAC and provides a comprehensive molecular diagnostic service for both hereditary amyloidosis (transthyretin amyloidosis (ATTR) is the commonest) and systemic autoinflammatory diseases (SAIDs).  The laboratory offers single gene testing, or for a wider range of genes, in particular for patients with suspected SAIDs, we recommend NGS gene panel, which has sufficient depth for detection of low level mosaicism.

The laboratory has successfully been assessed by UKAS to ISO 15189 standard and as part of its assurance of continuous quality, it takes part in three European Molecular Genetics Quality Network (EMQN) External Quality Assessment (EQA) schemes: for Hereditary Recurrent Fevers (HRF), Germline mutation testing using Next Generation DNA Sequencing and Sanger DNA sequencing.

Consultant staff working in the centre offer clinical advice including predictive genetic testing in asymptomatic individuals (such as family screening).

Advice for physicians on the process for requesting molecular genetic screening can be found on the centre’s website. Further information for referring physicians and appropriate contacts in the centre can be found the here.

Information for patients giving an overview of the centre and what to expect from a visit can be read here.

Information for patients giving an overview of the centre and what to expect from a visit can be read here.