People with suspected familial hypercholesterolaemia can now be referred for subsidised diagnostic genetic testing — a move which could ultimately save lives, pathologists say.

New items added to the MBS this month also mean that if heritable mutations associated with the condition are detected in a patient, cascade screening will be available for their close relatives.

The Royal College of Pathologists of Australasia, which applied to the Medical Services Advisory Committee for the items, noted that the cost of a test could be as much as $1200. 

“Diagnostic testing for familial hypercholesterolaemia is a complicated and expensive test which analyses over 1000 possible changes to identify the gene pattern causing high cholesterol in the family,” spokesman Associate Professor David Sullivan said.