Adult and paediatric conditions

• We can offer genetic testing and advice in relation to a range of different genetic conditions, including:

• Neurology: epilepsy, leukodystrophy, ataxia, brain malformations, peripheral neuropathy, intellectual disability, developmental delay.

• Cardiology: cardiomyopathy, arrhythmia, structural heart problems (congenital heart disease), aneurysmal/connective tissue conditions.

• Vision and Hearing: inherited retinal conditions, microphthalmia, early onset cataract, sensorineural hearing loss.

• Skin: ectodermal dysplasia, ichthyosis

• Lung: cystic fibrosis, pulmonary fibrosis, alpha-1 antitrypsin deficiency

• Liver: haemochromatosis, Wilson’s disease 

• Chromosome conditions: common deletion syndromes (eg 1p36, 22q11.2) and duplication syndromes (e.g. 17p11.2, 7q11.23), chromosomal translocations, and chromosome microarray results.

• Other conditions: metabolic, vascular, congenital malformation

• For some conditions, an in person consultation is required to complete the assessment. We have a clinic located at the Children’s Private Medical Group in Parkville and may recommend referral to that clinic if the Telehealth format is not suitable for you.