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).
About the Jack O’Neill Laboratory of Amyloidosis Research and Diagnosis
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).
Request a genetic test
Register and complete the online request form now so our genetic team can process your sample.
Request nowKey Staff
| Role | Name | |
|---|---|---|
| Head of Service | Dorota Rowczenio PhD FRCPath | dorota.rowczenio@nhs.net |
| Quality Manager | Ania Baginska | anna.baginska@nhs.net |
| Genetics/Pathology Secretary | Melanie Fuller | melanie.fuller@nhs.net |
NGS Gene Panel Testing
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:
- 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, especially for patients with suspected SAIDs, we recommend our NGS gene panel.
The NGS libraries are sequenced on the Illumina HiSeq2000 platform. The sensitivity of both panels is sufficient to detect somatic variants with a minor allele frequency (MAF) below 5%. This has enabled the identification of low-frequency mosaic mutations, particularly in patients with autoinflammatory disorders such as CAPS (Cryopyrin-associated periodic syndrome) and VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome.
Costs
Our service is funded by NHS England. Charges may apply to private patients and genetic requests from Ireland, Wales and Scotland.
Questions
For urgent enquiries regarding test results or interpretation of genetic report contact Dr Dorota Rowczenio.
For any administrative information, please contact our pathology secretary Melanie Fuller.
For clinical advice, also including predictive genetic testing in asymptomatic individuals, contact Helen Lachmann.
Dr Dorota Rowczenio
Click to email. dorota.rowczenio@nhs.net
Melanie Fuller
Click to email. melanie.fuller@nhs.net
Professor Helen Lachmann
Click to email. helen.lachmann@nhs.net
List of Genes
The testing our laboratory performs is listed in the 2021/2022 National Genomic Test Directory.
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 Prof. Helen Lachmann.
Quality Assurance
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 feedback in writing to Quality Manager, Ania Baginska.
See 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.
Protection of Information
All lab staff complete Royal Free London NHS Foundation Trust mandatory training in Information Security, GDPR, Fraud and Security, Information Governance and Equality, Diversity, and Inclusion.
