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Characterisation of germline variants causing familial hypercholesterolaemia (which must include the LDLR, PCSK9 and APOB genes), requested by a specialist or consultant physician, for a patient:

(a) for whom no familial mutation has been identified; and

(b) who has any of the following:

(i) a Dutch Lipid Clinic Network score of at least 6;

(ii) an LDL-cholesterol level of at least 6.5 mmol/L in the absence of secondary causes;

(iii) an LDL-cholesterol level of between 5.0 and 6.5 mmol/L with signs of premature or accelerated atherogenesis

Applicable only once per lifetime

Fee: $1,200.00 Benefit: 75% = $900.00 85% = $1,095.50

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Detection of a familial mutation for a patient who has a first- or second-degree relative with a documented pathogenic germline gene variant for familial hypercholesterolaemia

Applicable only once per lifetime

Fee: $400.00 Benefit: 75% = $300.00 85% = $340.00

• Previous - Item 73352
• Next - Item 73354