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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

• Previous - Item 73360
• 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

• Previous - Item 73361
• 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

Testing for diagnostic purposes of a pregnant patient, for detection in the fetus of a gene variant or variants present in the parents, if:

(a) the gene variant or variants are:

(i) a variant or variants in the mitochondrial genome identified in the oocyte donating parent; or

(ii) autosomal recessive variants identified in both biological parents within the same gene; or

(iii) an autosomal dominant or X-linked variant identified in either biological parent; or

(iv) identified in a biological sibling of the fetus; and

(b) the causative variant or variants for the condition of the fetus’ first-degree relative have been confirmed by laboratory findings; and

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

(d) the service is not a service associated with a service to which item 73361, 73362, 73363 or 73462 applies

Fee: $1,600.00 Benefit: 75% = $1,200.00 85% = $1,501.30

• Previous - Item 73458
• Next - Item 73460

Testing of a person for the detection of a single gene variant, if:

(a) the person tested has a biological relative with a known pathogenic or likely pathogenic mitochondrial disease variant confirmed by laboratory findings; and

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

(c) the service is not a service associated with a service to which item 73361, 73362 or 73363 applies

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

• Previous - Item 73461
• Next - Item 73521