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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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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

Characterisation of mitochondrial DNA deletion or variant for diagnostic purposes in a patient suspected to have mitochondrial disease, if:

(a) the characterisation is requested by the specialist or consultant physician managing the patient’s treatment; and

(b) the patient displays 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

(c) the service is performed following a service to which items 73292, 73358, 73359, 73456 or 73457 applies for the same patient if the results were non-informative
Applicable 3 times per lifetime

Fee: $450.00 Benefit: 75% = $337.50 85% = $382.50

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• Next - Item 73461