Some genetic conditions may only present or become more apparent in adulthood. Adult genetic consultations are offered to men and women who either have or are at increased risk of a genetic condition and are seeking a diagnosis, genetic testing, guidance on management, or more information and advice regarding the risk of recurrence in their children.

Reasons for consultation:
  • A personal or family history of a later onset genetic condition. These conditions are often neurological, neuromuscular, neuropsychiatric or cardiac (arrhythmias, sudden death, cardiomyopathy)
  • A known or suspected genetic condition becoming more apparent in adulthood e.g. connective tissue disorders, e.g. Ehlers Danlos syndrome, Marfan and other related syndromes.
  • Adult children with genetic conditions or syndromes who have outgrown paediatric practice and require coordination of healthcare into adulthood or ongoing healthcare surveillance.
What to expect:
Dr Liani will gather information from your family history and personal medical history. You will be examined for relevant clinical features (where indicated) before a discussion around the diagnosis or possible diagnosis. Dr Liani may advise further genetic or other investigations to determine the underlying cause, prognosis and recurrence risk. A management and follow up plan will be established together with your referring doctor.