Cardiac and Rare Genetic Diseases

PathWest Department of Diagnostic Genomics offers a comprehensive range of molecular genetic and genomic tests, ranging from single gene analysis to genome-wide analysis. Our suite of diagnostic tests enables detection of sequence level changes, copy number variants, structural rearrangements and epigenetic changes. We provide genetic testing for a number of cardiac and rare diseases, including:

• Structural cardiac genetic disorders
• Conductive cardiac genetic disorders
• Aortopathies/vascular genetic disorders
• Gene panel or whole exome sequencing analyses (Covered by Medicare if stated Indications for Testing are met (Items 73358 or 73359))

For the full range of tests provided and information on sample requirements, please refer to the Online Test Directory.

For conditions not covered by Medicare, testing may be available upon appropriate consent.