Invoice

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