Document ID: chunk:federal_register_of_legislation:F2025C00183:clause:1_73358
Version: federal_register_of_legislation:F2025C00183
Segment Type: clause
Provision Reference: sch 1 cl 73358
Character Range: 308475–310132

73358              Characterisation, via whole exome or genome sequencing and analysis, of germline variants known to cause monogenic disorders, if:                                                                                                                                                                                                                                                                                                                                                                                                                                    2,100.00
                   (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