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Analysis of chromosomes by genome-wide micro-array including targeted assessment of specific regions for constitutional genetic abnormalities in diagnostic studies of a person with developmental delay, intellectual disability, autism, or at least two congenital abnormalities (including a service in items 73287, 73289 or 73291, if performed)

- 1 or more tests.

Fee: $589.90 Benefit: 75% = $442.45 85% = $501.45

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Detection of mutation of the FMR1 gene where:

(a) the patient exhibits intellectual disability, ataxia, neurodegeneration, or premature ovarian failure consistent with an FMRI mutation; or

(b) the patient has a relative with a FMR1 mutation

1 or more tests

Fee: $101.30 Benefit: 75% = $76.00 85% = $86.15

(See para PN.0.23, PN.7.16 of explanatory notes to this Category)

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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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• Next - Item 73359

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 request for the characterisation states that singleton testing is inappropriate; and

(c) 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

(d) 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

(e) the characterisation is performed using a sample from the patient and a sample from each of the patient’s biological parents; and

(f) the characterisation is not performed in conjunction with a service to which item 73358 applies

Applicable only once per lifetime

Fee: $2,900.00 Benefit: 75% = $2,175.00 85% = $2,801.30

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

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• Next - Item 73360