Clinical Genetics

The Genetics Clinic provides clinical care for children with genetic diseases. We provide clinical evaluation, genetic counseling, and genetic testing for children with suspected or confirmed genetic diseases. Genetic testing can identify fluctuations in proteins, genes, or chromosomes. Test results can either affirm or rule out a genetic condition and can ascertain the chances of the condition developing at a later stage or being passed on through generations.

The genetic evaluation aims to identify the genetic causes of diseases, which can help in directing management, providing knowledge about the disease and its prognosis, and understanding the inheritance and recurrent risk. Additionally, certain disorders might not manifest until a child reaches adulthood, and genetic evaluation can spot symptoms before they appear to apply prevention.

Among the numerous genetic and inherited conditions that we provide care for the following

  • Down syndrome and other chromosomal disorders
  • Genetic and inherited syndromes
  • Birth defects and congenital malformations
  • Developmental delay, intellectual disability, and behavioral disorders
  • Neurogenetic syndromes
  • Metabolic disorders
  • Mitochondrial disorders
  • Skeletal dysplasias and growth failure
  • Inherited and genetic hearing impairment and eye diseases