Eurofins Clinical Diagnostics Ireland offers three test options for the diagnosis of genetic kidney disease

More than 850 million people worldwide are living with CKD, with ageing populations and rising rates of diabetes, obesity and hypertension/CVD contributing to the growing burden of disease. As CKD is asymptomatic in the early stages of disease, 30% of those affected remain undiagnosed. 98% of people are unaware that they have early-stage kidney disease, highlighting the importance of early detection and access to appropriate care in reducing the impact of CKD and improving patient outcomes.

Single Gene Test

The single gene test detects hereditary transthyretin amyloidosis (hATTR).  People with one or more pathogenic variations in the TTR gene produce an abnormal TTR protein throughout their lives, resulting in the deposition and accumulation of misfolded amyloid proteins. These deposits cause chronic disease and mainly affect the nerves and/or heart, and sometimes the kidneys, eyes and synovial tissues (tendons and ligaments).

Whole Exome Sequencing (WES)

Whole exome sequencing (WES) is a useful diagnostic tool for patients presenting with symptoms such as abnormal kidney morphology, kidney cysts, hydronephrosis, kidney agenesia/hypoplasia, and tubulopathy.

Specific Conditions

Autosomal dominant tubulointerstitial nephropathy (ADTKD) is caused by mutations in various genes, including MUC1. Eurofins Clinical Diagnostics has developed SharkVNTyper, a screening test that that can detect 27dupC (the most frequent variation of MUC1) with high sensitivity. If a variant is detected, it is confirmed by Snapshot PCR.

Eurofins Clinical Diagnostics Ireland exhibited at the European Renal Congress in 2026 in Glasgow, Scotland. The The European Renal Association recommends early screening according to the ABCDE approach:

Albuminuria (urine albumin-creatinine ratio (uACR)

Blood pressure

Cholesterol

Diabetes (Hba1c/glucose)

EGFR

Pharmacogenomic (PGx) testing is the a complementary test to genetic screening, which can be run alongside whole exome sequencing at a reduced cost. PGx results may help to reduce adverse side-effects from kidney medications and improve drug efficacy.

Find a local laboratory

Eurofins Biomnis Ireland Limited

Three Rock Road, Sandyford Industrial Estate, Dublin,D18 A4C0, Ireland