Invoice

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-informativeApplicable 3 times per lifetime