Clinical Genetics & Genomics Department

Services

 

Families affected by, or at risk of, conditions with a potential genetic basis are referred to our department by a range of healthcare professionals. Our Department offers specialized clinical and genetic counselling services for a broad spectrum of genetic conditions, including adult genetics, cancer genetics, reproductive and prenatal as well as paediatric genetics.

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

  • Chromosomal abnormalities, which can result in birth defects, intellectual disabilities, and/or reproductive challenges.
  • 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.
  • Conditions of unknown aetiology.
  • Familial cancer and cancer-predisposing syndromes, such as inherited breast or colorectal cancer, and neurofibromatosis.
     

List of Services

1.    Diagnosis, Management and Genetic Counselling: Comprehensive evaluation of patients' personal and family medical histories, physical ...

ERN-ITHACA

ERN-ITHACA: European Reference Network for Rare Malformation Syndromes, Intellectual and Other Neurodevelopmental Disorders European Reference Networks ...

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