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Characterisation of mitochondrial DNA deletion or variant for diagnostic purposes in a patient suspected to have mitochondrial disease, if:

(a) the characterisation is requested by the specialist or consultant physician managing the patient’s treatment; and

(b) the patient displays onset of one or more clinical features indicative of mitochondrial disease, including at least one or more of the following:

(i) meeting the clinical criteria of a probable indicator of mitochondrial disease on a relevant scoring system;

(ii) evident mitochondrial dysfunction or decompensation;

(iii) unexplained hypotonia or weakness, profound hypoglycaemia or ‘failure to thrive’ in the presence of a metabolic acidosis;

(iv) unexplained single or multi-organ dysfunction or fulminant failure (including, but not limited to, neuropathies, myopathies, hepatopathy, pancreatic and/or bone marrow failure);

(v) refractory or atypical seizures, developmental delays or cognitive regression, or progressive encephalopathy or progressive encephalomyopathy;

(vi) cardiomyopathy and/or cardiac arrythmias;

(vii) rapid hearing or painless visual loss or ptosis;

(viii) stroke-like episodes or nonvasculitic strokes;

(ix) ataxia, encephalopathy, seizures, muscle fatigue or weakness;

(x) external ophthalmoplegia;

(xi) hearing loss, diabetes, unexplained short stature, or endocrinopathy;

(xii) family history of mitochondrial disease; and

(c) the service is performed following a service to which items 73292, 73358, 73359, 73456 or 73457 applies for the same patient if the results were non-informative
Applicable 3 times per lifetime

Fee: $450.00 Benefit: 75% = $337.50 85% = $382.50

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