Neuromuscular gene tests

Neuromuscular gene tests available in NATA accredited laboratories in Australasia.

One of the goals of the ANN is to promote continuous and rapid translation of new tests into standardised best practice and to coordinate a national collaborative diagnostic service and research network for neuromuscular disorders that is costeffective, maximises availability and minimises duplication of services.

As a first step, the ANN has prepared a list of neuromuscular gene tests that are available in NATA accredited laboratories.

This resource is for clinicians, health professionals and researchers ONLY – patients are to make contact in the first instance with their GP/Specialist.

This list is provisional and is not yet complete. If you are a laboratory director and you wish to have your details added, or for general queries/questions/comments, please contact Mark Davis. The ANN will endeavour to keep this list updated as new tests become available.

The current list of genes available for testing and the contact details for the corresponding laboratories are below. Fees may be charged by the testing laboratory, however this is to be discussed directly with the laboratory.

PLEASE NOTE: The ANN accepts no responsibility for the accuracy of the list, the information provided, how the information is used, test results and how results are interpreted or applied or for ensuring ongoing NATA accreditation by the testing laboratories.

Disease Gene Laboratory      
Central core disease RYR1 (gDNA & cDNA) P
CMT PMP22 duplication A1, B, P, S2
PMP22 sequencing P, S2
MPZ P, S2
GJB1 P, S2
MFN2 P, S2
DNM2 S2
DMD/BMD DMD duplication / deletion A1, B, P, S1
gDNA sequencing B, S1
cDNA sequencing P
DRPLA ATN1 A1, P
Distal arthrogryposis MYH3 P
TPM2 P
Distal myopathy (of Laing) MYH7 P
Emery-Dreifuss MD LMNA P, S1
Friedreich ataxia FXN A1, B, P, S2
FSH D4Z4 repeat deletion P, S2
HNPP PMP22 deletion A1, B, P, S2
HSN1 SPTLC-1 S2
HyperK periodic paralysis SCN4A P
HypoK periodic paralysis CACNL1A3 / SCN4A P
hIBM GNE P
IBMPFD VCP P
Kennedy’s disease AR A1, B, P, S2
LGMD1A TTID P
LGMD1C CAV3 P
LGMD2A CAPN3 P
LGMD2E SGCB P
LGMD2I FKRP P
LGMD2L ANO5 P
McArdle disease PYGM P
Mitochondrial disorders
KSS/CPEO Deletions P
MELAS MT-TL1 P
MERRF MT-TK P
NARP/MILS MT-ATP6 P
Motor neurone disease SOD1 P, S2
FUS P
TARDBP P, S2
Myofibrillar myopathy TTID P
DES P
CRYAB P
LDB3 P
Myotonia congenita CLCN1 P
Myotonic dystrophy (DM1) DMPK A1, B, P, S2
Myotonic dystrophy (DM2 – PCR) ZNF9 P
Myotubular myopathy MTM1 A1, P
Nemaline myopathy ACTA1 P
TPM2 P
TPM3 P
KBTBD13 P
OPMD PABPN1 A1, B, P
Paramyotonia congenita SCN4A P
Pompe disease GAA A2
SCA1 ATX1 A1, B, P, S2
SCA2 ATX2 A1, B, P, S2
SCA3 ATX3 A1, B, P, S2
SCA6 CACNA1A A1, B, P, S2
SCA7 ATX7 A1, B, P, S2
SCA17 TBP P
Spinal muscular atrophy SMN1 A1, B, P, S1

 

Laboratory contact details

A1 Genetics and Molecular Pathology, SA Pathology (Women’s and Children’s Hospital) – Contact: Kathie Friend: kathryn.friend@adelaide.edu.au, 08 8161 7107

A2 National Referral Laboratory, SA Pathology (Women’s and Children’s Hospital); Contact: Michael Fietz: Michael.Fietz@health.sa.gov.au, 08 8161 8062

Molecular Genetics Laboratory, Pathology Queensland; Contact: Val Hyland: Val_Hyland@health.qld.gov.au, 07 3647 8072

Neurogenetics Laboratory, Royal Perth Hospital; Contact: Mark Davis: mark.davis@health.wa.gov.au, 08 9224 3136

S1 Prince of Wales Hospital, South Eastern Sydney and Illawarra Area Health Service; Contact: Peter Taylor: Peter.Taylor2@sesiahs.health.nsw.gov.au

S2 Molecular Medicine Laboratory, Concord Repatriation General Hospital; Contact: Danqing Zhu: molmed@med.usyd.edu.au, 02 97677009