Invoice

Characterisation, via whole exome or genome sequencing and analysis, of germline variants known to cause monogenic disorders, if: (a) the characterisation is: (i) requested by a consultant physician practising as a clinical geneticist; or (ii) requested by a consultant physician practising as a specialist paediatrician, following consultation with a clinical geneticist; and (b) the patient is aged 10 years or younger and is strongly suspected of having a monogenic condition, based on the presence of: (i) dysmorphic facial appearance and one or more major structural congenital anomalies; or (ii) intellectual disability or global developmental delay of at least moderate severity, as determined by a specialist paediatrician; and (c) the characterisation is performed following the performance for the patient of a service to which item 73292 applies for which the results were non-informative; and (d) the characterisation is not performed in conjunction with a service to which item 73359 applies Applicable only once per lifetime