1585 – Genetic testing for the diagnosis of early-onset or familial neuromuscular disorders

New MBS item.

Diagnostic genetic testing of affected individuals:

Gene panel testing to identify pathogenic variants for inherited neuromuscular disorders, in patients where clinical criteria or a family history indicate genetic testing is warranted. The genes listed below may be considered “core genes” (currently tested in some Australian laboratories), that capture at least 90% of pathogenic variation. However, to increase the rate of capture, other genes may be added to these panels, depending on the patient and the laboratory conducting the test. Similarly, fewer genes on the panel would result in a reduced capture rate.

Muscular panel:

ACADVL, ACTA1, ANO5, B3GALNT2, BICD2, CACNA1S, CAPN3, CAV3, CHRND, CHRNE, CHRNG, CLCN1, COL12A1, COL6A1, COL6A2, COL6A3, CPT2, DES, DMD, DNAJB6, DNM2, DOK7, DYNC1H1, DYSF, EMD, FKRP, FLNC, GAA, GMPPB, GNE, LAMA2, LMNA, LMNA, LPIN1, MAGEL2, MTM1, MYH2, MYH3, MYH7, MYOT, NALCN, NEB, PIEZO2, POLG, POMGNT1, POMT1, POMT2, PYGM, RAPSN, RRM2B, RYR1, SCN4A, SEPN1, SGCA, SGCB, SMCHD1, TNNI2, TPM2, TRIM32, TRPV4, TTN, VCP, ZC4H2

Neuropathy panel: 

AARS, ABCD1, ANO10, ARSA, ATL1, ATM, ATP1A3, BSCL2, CACNA1A, CACNA1G, CYP7B1, DCX, EIF2B5, FGF14, FIG4, GBA2, GCH1, GDAP1, GFAP, GJB1, HSPB1, IGHMBP2, KCNA1, KIF1A, KIF5A, LITAF, MFN2, MPZ, NIPA1, NOTCH3, PAFAH1B1, PLP1, PMP22, PRKCG, PRRT2, PRX, REEP1, REEP2, RYR1, SACS, SGCE, SH3TC2, SLC52A2, SOD1, SPAST, SPG11, SPG7, SPTLC2, TARDBP, THAP1, TOR1A, TRPV4, TTR, TUBB3, TUBB4A, WNK1

Predictive genetic testing of family members:

Detection of a clinically-actionable pathogenic mutation, previously identified in a first-degree relative. Mutation-specific genetic testing is recommended for family members and appropriate relatives, following identification of causative mutation in an index case.

Prenatal genetic testing:

Prenatal genetic testing for a previously-clarified familial neuromuscular disorder should be offered for any future pregnancies, after appropriate counselling.

Type: Investigative

Neuromuscular disorders (NMDs) are a broad range of disorders affecting the peripheral nervous system, muscle and neuromuscular junctions that present with a high level of clinical and genetic heterogeneity, and overlapping phenotypes. A great proportion of NMDs present antenatally or in early infancy, and are associated with significant disability or life-threatening complications. While historically, treatment options for NMDs were poor, new developments offer curative interventions or improvements in the decrease of morbidity and mortality. NMDs tend to be genetic in origin, and can be inherited as autosomal dominant, autosomal recessive, X-linked, or mitochondrial traits. However, de novo pathogenic variants are relatively common. Therefore, novel treatments for NMDs are guided by the underlying molecular pathology and establishment of a definitive genetic diagnosis. NMDs can be roughly allocated into four categories: muscle disorders (such as Duchenne muscular dystrophy); motor neuron disorders (including spinal muscular atrophy); neuropathies (such as Charcot-Marie-Tooth disease); and neuromuscular junction disorders.

• PASC meeting: 
  • 5 to 6 December 2019
  • 17 April 2020
• ESC meeting: 10 to 11 June 2021
• MSAC meeting: 
  • 29 to 30 July 2021
  • 24 September 2021
  • 8 December 2021
  • 27 May 2022