Diagnostic referrals accepted from Neurology, Paediatrics or Genetic Services.
Familial and carrier testing only through Genetic Services.
Genetic Health Service NZ can be contacted on 0800 476 123.
Neurology can be contacted on (09) 307 4949 ext. 25662.
General Paediatrics can be contacted on (09) 307 4949 ext. 22559.
Specimen Collection 4 mL Paediatric EDTA Blood (Preferred) 8 mL Adult EDTA Blood
For paediatric samples a minimum of 0.5ml blood EDTA can be processed. (Microcollect)
Transport all bloods at room temperature within 24-48 hours. If necessary specimens can be refrigerated overnight for transport at room temperature the following day.
For testing of other sample types please contact the laboratory prior to sending.
Turnaround Time: 6 weeks Contact Information
Contact Molecular Genetics via:
Lablink ext 22000
Mark Greenslade (Technical Head) ext 22010
Pippa Grainger (Section leader) ext 22014
The dystrophinopathies include a spectrum of muscle disease caused by mutations in the DMD gene, which encodes the protein dystrophin.
The severe end of the spectrum includes progressive muscle diseases that are classified as Duchenne/Becker muscular dystrophy when skeletal muscle is primarily affected and as DMD-related dilated cardiomyopathy when the heart is primarily affected.
Duchenne muscular dystrophy (DMD) usually presents in early childhood with delayed milestones, including delays in sitting and standing independently. Proximal weakness causes a waddling gait and difficulty climbing. DMD is rapidly progressive, with affected children being wheelchair bound by age 12 years. Cardiomyopathy occurs in all affected individuals after age 18 years. Few survive beyond the third decade, with respiratory complications and cardiomyopathy being common causes of death. Becker muscular dystrophy (BMD) is characterized by later-onset skeletal muscle weakness; individuals remain ambulatory into their 20s. Despite the milder skeletal muscle involvement, heart failure from dilated cardiomyopathy (DCM) is a common cause of morbidity and the most common cause of death. Mean age of death is in the mid-40s .
is the only gene in which mutations cause the dystrophinopathies. Molecular genetic testing of
can establish the diagnosis of a dystrophinopathy without muscle biopsy in most individuals with DMD and BMD. Virtually all males with DMD/BMD have identifiable
mutations. The number of individuals with
-associated DCM and identifiable
mutations is unknown. In the remaining cases, a combination of clinical findings, family history , serum CK concentration, and muscle biopsy with dystrophin studies confirms the diagnosis.
Molecular genetic testing for
For more information about the Molecular Genetics service:
Molecular Genetics information page