Hereditary amyloidosis is a genetic condition characterized by the abnormal deposition of amyloid proteins in various tissues and organs, leading to progressive damage. One notable form is hereditary transthyretin amyloidosis (ATTRv), which is caused by mutations in the transthyretin (TTR) gene. A significant founder variant, known as T80A (formerly T60A), has been identified in the northwest region of Ireland, particularly in County Donegal. This variant is associated with a higher prevalence of the disease in this area.
Referrals for DIAGNOSTIC Genetic Testing
- For individuals with a very high index of suspicion of amyloidosis then please send a purple top EDTA blood sample for diagnostic genetic testing. This can be requested through Epic as an R204 Hereditary systemic amyloidosis request.
- This accompanying proforma (from the National Amyloidosis Centre) MUST be completed and forwarded to the genetics lab at genetics on genetics.away@belfasttrust.hscni.net
- Requests for testing without this proforma will not be undertaken and a DNA storage report will be issued.
- Where symptomatic patients have a known family history then this should be stated on the referral and details of the family member included.
Referrals for PREDICTIVE Genetic testing should be directed to Clinical Genetics (REF 1021 on Epic)
- Predictive genetic testing is performed in individuals who are at risk of a genetic condition but who do not yet show any signs or symptoms. An appointment for genetic counselling will be offered to discuss the implications of the predictive genetic test and arrange any testing.
- In order to conduct predictive genetic testing, it is necessary to identify the specific genetic variant (s) in the patient’s affected relative.
- Referrals should therefore include information on the patient affected relative (name/DOB/HCN) or if, available a copy of the affected relatives genetic test report.
- Some individuals will have relatives who were not previously tested through the Northern Ireland Regional Genetics service (such as relatives tested directly through the National Amyloidosis Centre) or in the south of Ireland. It is helpful to indicate this on referrals to help in identifying the genetic test report on affected family members.
For further information on Hereditary amyloidosis please see:
National Amyloidosis Centre
Clinical and Genetic Evaluation of People with or at Risk of Hereditary ATTR Amyloidosis: An Expert Opinion and Consensus on Best Practice in Ireland and the UK
Hereditary systemic amyloidosis — Knowledge Hub
hATTR Amyloidosis | Patient Stories And Resources
Transthyretin Amyloidosis (ATTR-CM): Types, Causes, Treatment