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.
Resources
Service |
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