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).

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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 2021/2022 National Genomic Test Directory:

• 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 apply only to private patients and genetic requests from Ireland, Wales and Scotland. Charges are: £150 for carrier and predictive testing of known mutations, and £400 for screening of a single gene using Sanger sequencing method. NGS gene panels for hereditary amyloidosis or systemic autoinflammatory diseases (SAIDs) are £700.

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 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