Medicare Benefits Schedule - Item 73457

Characterisation by whole genome sequencing, or either or both whole exome sequencing and mitochondrial DNA sequencing, of germline variants present in nuclear DNA and in mitochondrial DNA, of a patient with a strong suspicion of a mitochondrial disease, if:

(a) the characterisation is performed using a sample from the patient and a sample from each of the patient’s biological parents; and

(b) the request for the characterisation states that singleton testing is inappropriate; and

(c) the characterisation is requested by a specialist or consultant physician; and

(d) the characterisation is requested because of the 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

(e) the service is not a service associated with a service to which item 73358, 73359 or 73456 applies

Applicable only once per lifetime

Fee: $3,300.00 Benefit: 75% = $2,475.00 85% = $3,201.30

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