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).

PLEASE CLICK HERE TO REQUEST GENETIC TEST

Key Staff

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 disorders (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 National Genomic Test Directory - https://www.england.nhs.uk/publication/national-genomic-test-directories/

• For hereditary systemic amyloidosis the clinical indications ID is R204
• For autoinflammatory disorders (previously described as fever syndromes)  the clinical indications ID is R413

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 Cryopyrin-associated periodic syndrome (CAPS) and Tumor necrosis factor receptor-associated periodic syndrome (TRAPS).

Our service is funded by NHS England. Charges may apply to private patients and genetic requests from Ireland, Wales and Scotland. For more information regarding charges please contact our pathology secretary Melanie Fuller

For any questions regarding genetic testing please contact Dr Dorota Rowczenio.

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.

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.

Protection of Personal information:

All laboratory staff complete Royal Free London NHS Foundation Trust, mandatory training in the following topics:

• Information Security
• GDPR
• Fraud and Security
• Information Governance
• Equality, Diversity and Inclusion Training