ADULT GENETIC CONSULTATION
ADULT GENETICS
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.