Haemochromatosis 

Haemochromatosis is more common in Ireland than anywhere else in the world, as one in five people carry one copy of the gene and one in every 83 Irish people carry two copies of the gene, predisposing them to develop iron overload.

‍This excess iron builds up in the liver, pancreas, joints, heart, or endocrine glands and becomes a free radical, converting normal reactive oxygen species into highly destructive hydroxyl radicals, which ravage cellular membranes, proteins, and DNA, ultimately leading to organ damage.

The degree of iron overload is assessed with a ferritin test. Screening leads to early diagnosis and treatment, preventing complications from developing from this common genetic disorder.

Coeliac disease

Coeliac disease is a chronic, immune-mediated, systemic disorder caused by intolerance to gluten — a protein present in rye, barley, wheat grains and oats — that affects genetically predisposed individuals. Screening tests for HLA-DQ2 and HLA-DQ8, found on chromosome 6. 

Incidence is estimated to be 1 in 100. Prospective data indicate that children with first-degree relatives with coeliac disease are at a significantly higher risk of developing the condition (1 in 10), which should prompt screening efforts in this population.

Cystic fibrosis (CF)

Ireland has the highest incidence of CF in the world, with roughly 1 in 2,100 babies born with the condition. Approximately 1 in 19 Irish people are carriers of the altered gene, and over 1,400 children and adults live with the condition, which is about three times the average rate of the EU and US.

It is most commonly diagnosed shortly after birth through newborn screening programmes (heel-prick test), usually within the first month of life. While most cases are identified by age 2, some individuals with milder symptoms or rarer mutations may not be diagnosed until childhood, adolescence, or adulthood.

Eurofins Clinical Diagnostics Ireland offers a high-throughput sequencing test that analyses all 522 known CFTR gene variants known to be associated with cystic fibrosis or adult-onset conditions, including deletions/duplications of the gene and the 5T polymorphism.