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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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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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Re-analysis of whole exome or genome data obtained in performing a service to which item 73358 or 73359 applies, for characterisation of previously unreported germline gene variants related to the clinical phenotype, if:

(a) the re-analysis 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 15 years or younger and is strongly suspected of having a monogenic condition; and

(c) the re-analysis is performed at least 18 months after:

(i) a service to which item 73358 or 73359 applies; or

(ii) a service to which this item applies

Applicable only twice per lifetime

Fee: $500.00 Benefit: 75% = $375.00 85% = $425.00

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Testing of a person (the person tested) for the detection of a single gene variant for diagnostic purposes, if:

1. the person tested has a biological sibling (the sibling) with a known monogenic condition; and
2. a service described in item 73358, 73359 or 73360 has identified the causative variant for the sibling’s condition; and
3. the results of the testing performed for the sibling are made available for the purpose of providing the detection for the person tested; and
4. the detection is:
   1. requested by a consultant physician practising as a clinical geneticist; or
   2. requested by a consultant physician practising as a specialist paediatrician, following consultation with a clinical geneticist; and
5. the detection is not performed in conjunction with a service to which item 73362 or 73363 applies

Applicable only once per variant per lifetime

Fee: $400.00 Benefit: 75% = $300.00 85% = $340.00

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Testing of a person (the person tested) for the detection of a single gene variant for the purpose of reproductive decision making, if:

1. the person tested has a first‑degree relative (the relative) with a known monogenic condition; and
2. a service described in item 73358, 73359 or 73360 has identified the causative variant for the relative’s condition; and
3. the results of the testing performed for the relative are made available for the purpose of providing the detection for the person tested; and
4. the detection is requested by a consultant physician or specialist; and
5. the detection is not performed in conjunction with item 73359, 73361 or 73363

Applicable only once per variant per lifetime

Fee: $400.00 Benefit: 75% = $300.00 85% = $340.00

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• Next - Item 73363

Testing of a person (the person tested) for the detection of a single gene variant for segregation analysis in relation to another person (the patient), if:

1. the patient has a known phenotype of a suspected monogenic condition; and
2. a service described in item 73358 or 73360 has identified a potentially causative variant for the patient; and
3. the person tested is a biological parent or other biological relative of the patient; and
4. a sample from the person tested has not previously been tested in relation to the patient for a service to which item 73359 applies; and
5. the results of the testing of the person tested for this service are made available for the purpose of providing the detection for the patient; and
6. the detection is:
   1. requested by a consultant physician practising as a clinical geneticist; or
   2. requested by a consultant physician practising as a specialist paediatrician, following consultation with a clinical geneticist; and
7. the detection is not performed in conjunction with item 73361 or 73362

Applicable only once per variant per lifetime

Fee: $400.00 Benefit: 75% = $300.00 85% = $340.00

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