Eurofins Clinical Diagnostics Ireland offers genetic testing for rare paediatric disorders using advanced NGS technology, including:

• Angelman Syndrome
• Duchenne Muscular Dystrophy (DMD)
• Fabry Disease
• Gaucher Disease
• Phenylketonuria (PKU)

We also test for adult rare diseases such as Huntington's disease, Ehlers-Danlos syndrome, adult-onset leukodystrophies, and metabolic disorders like Alkaptonuria.