Document ID: chunk:federal_register_of_legislation:F2025C00183:clause:1_73457
Version: federal_register_of_legislation:F2025C00183
Segment Type: clause
Provision Reference: sch 1 cl 73457
Character Range: 393437–395989

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:                                                                                                                                                                                                                                                                                                   3,300.00
                   (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