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: [email protected], 08 8161 7107

A2 National Referral Laboratory, SA Pathology (Women’s and Children’s Hospital); Contact: Michael Fietz: [email protected], 08 8161 8062

B Molecular Genetics Laboratory, Pathology Queensland; Contact: Val Hyland: [email protected], 07 3647 8072

P Neurogenetics Laboratory, Royal Perth Hospital; Contact: Mark Davis: [email protected], 08 9224 3136

S1 Prince of Wales Hospital, South Eastern Sydney and Illawarra Area Health Service; Contact: Peter Taylor: [email protected]

S2 Molecular Medicine Laboratory, Concord Repatriation General Hospital; Contact: Danqing Zhu: [email protected], 02 97677009