Medicare Benefits Schedule - Item 73358

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

Fee: $2,100.00 Benefit: 75% = $1,575.00 85% = $2,001.30

(See para PN.7.4 of explanatory notes to this Category)

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Intellectual disability or global developmental delay of at least moderate severity, to be determined by a specialist paediatrician according to Diagnostic and Statistical Manual of Mental Disorders (DSM) criteria.

Related Items: 73358 73359