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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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• Next - Item 73361

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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• Next - Item 73362

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

• Previous - Item 73362
• Next - Item 73364

Genomic testing and copy number variant analysis of genes known to be causative or likely causative of childhood hearing loss in a patient, if:
(a) the testing and analysis is requested by a specialist or consultant physician; and
(b) the patient has congenital or childhood onset hearing loss that presented before the patient was 18 years of age and is permanent moderate, severe, or profound (>40 dB in the worst ear over 3 frequencies) and classified as sensorineural, auditory neuropathy or mixed; and
(c) the patient is not eligible for a service to which item 73358 or 73359 applies; and
(d) the testing and analysis is not associated with a service to which item 73441 applies

Applicable once per lifetime

Fee: $1,200.00 Benefit: 75% = $900.00 85% = $1,101.30

(See para PN.0.23, PN.7.13 of explanatory notes to this Category)

• Previous - Item 73439
• Next - Item 73441

Genomic testing and copy number variant analysis of relevant genes known to be causative or likely causative of childhood hearing loss in a patient, if:
(a) the testing and analysis is requested by a specialist or consultant physician; and
(b) the patient has congenital or childhood onset hearing loss that presented before the patient was 18 years of age and is permanent bilateral moderate, severe, or profound (>40 dB in the worst ear over 3 frequencies) and classified as sensorineural, auditory neuropathy or mixed; and
(c) the testing and analysis is performed using a sample from the patient and a sample from each of the patient’s biological parents; and
(d) the patient is not eligible for a service to which item 73358 or 73359 applies; and
(e) the testing and analysis is not associated with a service to which item 73440 applies

Applicable once per lifetime

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

(See para PN.0.23, PN.7.13 of explanatory notes to this Category)

• Previous - Item 73440
• Next - Item 73442

Characterisation by whole genome sequencing, or by either or both whole exome sequencing and mitochondrial DNA sequencing, of germline variants present in nuclear DNA and in mitochondrial DNA of a patient with a strong suspicion of a mitochondrial disease, if:

(a) the characterisation is requested by a specialist or consultant physician; and

(b) the characterisation is requested because of the 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, or any of the above;

                   and

(c) the service is not a service associated with a service to which item 73358, 73359 or 73457 applies

Applicable only once per lifetime

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

• Previous - Item 73455
• Next - Item 73457

Characterisation by whole genome sequencing, or either or both whole exome sequencing and mitochondrial DNA sequencing, of germline variants present in nuclear DNA and in mitochondrial DNA, of a patient with a strong suspicion of a mitochondrial disease, if:

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

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

(c) the characterisation is requested by a specialist or consultant physician; and

(d) the characterisation is requested because of the 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

(e) the service is not a service associated with a service to which item 73358, 73359 or 73456 applies

Applicable only once per lifetime

Fee: $3,300.00 Benefit: 75% = $2,475.00 85% = $3,201.30

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• Next - Item 73458