Cardiovascular Genetics

The Cardiovascular Genetics Laboratory provides specialised genetic testing for inherited cardiometabolic, lipid and endocrine disorders. Testing on index patients, available by specialist request, is performed by massively parallel sequencing with targeted analysis for:

  • Familial hypercholesterolaemia (FH)
  • Hypertriglyceridaemia / Familial chylomicronaemia syndrome
  • Hypo- and hyper-alphalipoproteinaemia
  • Abeta- and hypo-betalipoproteinaemia
  • Maturity-Onset Diabetes of the Young (MODY)
  • Inherited lipodystrophies
  • Monogenic hyperaldosteronism/hypertension
  • Familial hypocalciuric hypercalcaemia (FHH)
  • Thyroid hormone resistance.

We also offer cascade screening (FH) and APOE genotyping (E2 allele only) by Sanger sequence analysis.

Please email the laboratory or phone (08) 6152 8128 for current services, pricing and turnaround times.



 Download a Form

Related Links and Resources 

 Familial Hypercholesterolaemia MBS Testing   Request Form

Dutch Lipid Clinic Network Score Online Calculator 

MBS Criteria for Familial Hypercholesterolaemia index case testing

MBS Criteria for Familial Hypercholesterolaemia cascade family testing 

 MODY Genetic Testing  Request Form MODY Probability Calculator 
 Familial Hypocalciuric Hypercalcaemia (FHH) Genetic Testing  Request Form  
 Cardiometabolic Disorders  Consent Form  


Last Updated: 22/11/2023