Biochemical Genetics Department


Biochemical Genetics Department

The Department of Biochemical Genetics (BG) at the Cyprus Institute of Neurology and Genetics (CING) was established in 1990 with the goal of becoming the reference centre in Cyprus for the laboratory investigation and monitoring of inherited metabolic disorders (inborn errors of metabolism). Approximately 1000 inborn errors of metabolism (IEM) have been identified to date and new ones are described every year. It is estimated that cumulatively they affect about one in every 500 newborns. Their clinical symptoms can present from intrauterine life through to adulthood, and can affect all systems (nervous, muscular, cardiovascular, skeletal, liver, kidney etc.). Symptoms can vary from life-threatening to intermittent, with the patient being completely normal between crises. Serious learning disabilities and other neurological deficits are common clinical manifestations of these disorders. The diagnosis of IEM is particularly challenging and the contribution of the laboratory is crucial. The prompt diagnosis of inherited metabolic disorders allows for effective treatment, where possible, better management and prevention.

Our mission is to provide biochemical testing and result interpretation of the highest quality and be of service to patients and families with inherited metabolic disorders in Cyprus and neighbouring countries.

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