View Associated Notes
Category 6 - PATHOLOGY SERVICES
73434 - Additional Information
Detection of pathogenic or likely pathogenic gene variants, requested by a specialist or consultant physician, for any of the following:
(a) a patient with a suspected neuromuscular disorder;
(b) a relative of a patient with a pathogenic or likely pathogenic germline gene variant associated with a neuromuscular disorder (confirmed by laboratory findings);
(c) the reproductive partner of a patient with a recessive pathogenic or likely pathogenic germline gene variant associated with a neuromuscular disorder (confirmed by laboratory findings)
Applicable once per gene per lifetime
Fee: $392.00 Benefit: 75% = $294.00 85% = $333.20
(See para PN.7.11, PN.7.12 of explanatory notes to this Category)
Associated Notes
Category 6 - PATHOLOGY SERVICES
PN.7.11
Single gene testing for the diagnosis of heritable neuromuscular disorders - item 73434
Where a recessive variant has been identified using item 73434, reproductive partners should first be tested using item 73434, prior to gene sequencing under item 73427 where no relevant variant was detected by item 73434 and if considered appropriate, after genetic counselling.
Related Items: 73434
Category 6 - PATHOLOGY SERVICES
PN.7.12
Item 73434 minimum gene list
Testing for pathogenic or likely pathogenic gene variants associated with neuromuscular disorders (item 73434) should include, but is not limited to, any one of the following genes: DMPK, CNBP, HTT, PABPN1, C9orf72, AR, SMN1, PRNP, MTND1, MT-ND4, MT-ND4L, MT-ND6, MT-TK, MT-L1, MT-ATP6, FXN, ATN1; or all five of the following genes: ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7.
Related Items: 73434
Legend
- Assist - Addition/Deletion of (Assist.)
- Amend - Amended Description
- Anaes - Anaesthetic Values Amended
- Emsn - EMSN Change
- Fee - Fee Amended
- Renum - Item Number Change (renumbered)
- New - New Item
- NewMin - New Item (previous Ministerial Determination)
- Qfe - QFE Change