Clinical Genetics & Genomics Department

List of Services

The Clinical Genetics Clinic provides a diagnostic service, management and genetic counselling for individuals or families with, or at risk of, disorders that may have a genetic basis. Individuals or families are referred to the Clinic by healthcare providers. 

Reasons for referral include but are not limited to the following:

  • Chromosomal abnormalities, which may cause among others birth defects, intellectual disability and/or reproductive problems.
  • Single gene disorders such as cystic fibrosis, Duchenne muscular dystrophy, familial Mediterranean fever and Huntington disease.
  • Birth defects with a genetic component such as neural tube defects, cleft lip and palate and skeletal dysplasias.
  • Other disorders of unknown aetiology.
  • Familial cancer and cancer-predisposing syndromes, such as inherited breast or colorectal cancer and neurofibromatoses.


Genetic counselling involves the exchange of information related to the clinical picture of the genetic disorder, prognosis, the therapeutic potential, and the risk of recurrence or transmission. It also provides families with supportive counselling and information regarding existing supportive services. Couples that face dilemmas during a pregnancy because of abnormal laboratory results, abnormalities in the antenatal ultrasound scan or at risk of transmitting hereditary conditions to the embryo are also referred for genetic counselling to our clinic. During this process their reproductive options are also explored. 

Our clinic collaborates closely with other departments at CING or abroad in order to provide the most up to date service.  Patient samples are often sent for genetic or other analyses and the results are used to confirm a diagnosis, to identify the underlying genetic aetiology and to facilitate genetic counselling.

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