Document ID: chunk:federal_register_of_legislation:F2025C00183:clause:1_73456
Version: federal_register_of_legislation:F2025C00183
Segment Type: clause
Provision Reference: sch 1 cl 73456
Character Range: 391129–393437

73456              Characterisation by whole genome sequencing, or by 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:                                                                                                                                                                                                                                                                                                 2,100.00
                   (a) the characterisation is requested by a specialist or consultant physician; and
                   (b) 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, or any of the above; and
                   (c) the service is not a service associated with a service to which item 73358, 73359 or 73457 applies
                   Applicable only once per lifetime