Haemochromatosis (HFE) 

Haemochromatosis is among the most common genetic disorders in Ireland. 1 in 5 Irish people are carriers of the HFE gene, which causes excessive absorption of iron from food. This results in high ferritin levels, known as ‘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. 

Screening facilitates early diagnosis and proactive treatment, preventing the development of complications.

Cystic Fibrosis (CF)

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

This test identifies all known pathogenic variations of the CFTR gene and can be conducted prenatally in the event of abnormal ultrasound findings and postnatally for children or atypically presenting adults. In addition, this test can be leveraged to investigate fertility disorders in men, wherein agenesis of the vas deferens facilitates the genetic diagnosis of male infertility. 

The 'Heel Prick' test

This test is a routine blood test performed on babies between 72 and 120 hours after birth. The range of tests conducted may vary between areas, but can include:

• Cystic Fibrosis
• Congenital Hypothyroidism (CHT)
• Phenylketonuria (PKU)
• Classical Galactosaemia
• Homocystinuria (HCU)
• Maple Syrup Urine Disease (MSUD)
• Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)
• Glutaric Aciduria Type 1 (GA1)
• Adenosine Deaminase Deficiency Severe Combined Immunodeficiency
• Severe Combined Immunodeficiency (SCID)
• Spinal Muscular Atrophy (SMA). 

Eurofins Clinical Diagnostics Ireland offers additional screenings such as Sickle Cell Anaemia & Thalassemia.