Document ID: chunk:federal_register_of_legislation:F2025C00183:clause:1_73460
Version: federal_register_of_legislation:F2025C00183
Segment Type: clause
Provision Reference: sch 1 cl 73460
Character Range: 398469–400821

73460              Characterisation of mitochondrial DNA deletion or variant for diagnostic purposes in a patient suspected to have mitochondrial disease, if:                                                                                                                                                                                                                                                                                                                                                                                                                          450.00
                   (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