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).
Service Overview
The Jack O’Neill National Amyloidosis Laboratory is the national test provider for two clinical indications: R204 hereditary amyloidosis and R413 systemic autoinflammatory diseases (SAIDs). The ‘R’ numbers refer to the NHSE Test Directory Clinical Indication ID.
The laboratory routinely performs the following tests:
- Sanger Sequencing - Predictive testing or screening of single genes.
- NGS gene panel - Wider range of genes in hereditary amyloidosis and systemic autoinflammatory diseases.
The former test is recommended for a carrier, predictive testing or screening of a single gene; to screen a wider range of genes, for patients with suspected hereditary amyloidosis and systemic autoinflammatory diseases we recommend NGS gene panels consisting of either 19 or 33 genes respectively, as listed on our website and the user guide.
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.
For comprehensive information regarding our diagnostic services, please refer to the user guide:
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 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.
For more information on quality assurance, please see the NAC user guide.
Please help us improve the service and direct feedback in writing to Quality Manager, Ania Baginska.
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.
