Improving the Diagnosis of Muscle Disease

The Institute for Neuromuscular Research at the Children’s Hospital Westmead conducts research to determine the causes and consequences of inherited muscle diseases. The goal of this research is to improve diagnosis, to better understand the mechanisms of these disorders, with the ultimate goal of developing effective therapies. To help with this research, we have established what is known as the Neurogenetics Biospecimen Bank in which we store tissues (muscle, fibroblast, and DNA) for the purpose of diagnosis and research.

When studying the characteristics of these samples, it is important for us to have a normal sample, which enables us to make a comparison.
A treating physician may request that muscle and/or skin biopsies are required to investigate symptoms you or your child may be experiencing.

To preserve muscle and fibroblast samples referred to the Institute for Neuromuscular Research, we store them at -196° C. If a diagnosis is not made during the initial investigation we re-analyse the stored biopsies as new techniques become available. We also store muscle biopsies in which routine histological analysis is reported as normal and an alternative diagnosis is made (for e.g. neuropathy). We use these samples as control specimens for direct comparison to muscle biopsies under investigation for a muscle disease.

We may need to collect 10ml of blood (approximately 2 teaspoons) from a vein in the arm to obtain a DNA sample. DNA may also be obtained from muscle and skin biopsies collected.

The muscle, fibroblasts and DNA are stored in the Neurogenetics Biospecimen Bank and may be provided to scientists within the Institute for Neuromuscular Research and their direct collaborators who are studying muscle disorders.

Catering to over 1000 patients and receiving referrals from Australia, New Zealand and Asia, the INMR continues to provide a world class diagnostic service. All requests for studies in the INMR laboratory need to be addressed to Prof Kathryn North by letter or email.  Please click here for information on how to arrange for a biopsy to be studied in the INMR laboratory or e-mail the Neurogenetics Unit Manager for further information.

Our analysis run occurs approximately every 6 weeks depending on quantity of samples for analysis. Please see the attached file for our list of standard tests available. Additional testing is available on an individual basis (needs to be discussed with Prof Kathryn North).

What we require:

To perform any studies on patient samples we must obtain consent for the use of the biopsy and permission to store data in our facility. Please see the attached information sheet and consent forms. We ask that you obtain consent from your patient and then return the completed forms to Ms Leigh Waddell. We are unable to perform any analysis without the return of completed consent forms.

Information Sheet Biospecimen Bank
Consent Form Biospecimen Bank
Consent Form 2 Storage Testing for Research Biospecimen Bank
Patient Clinical Information
We have designed a checklist of the relevant clinical information we require for our studies. Please fill out the attached form, providing as much information as possible, as this may assist us in directing the testing performed and further recommendations. It is also useful to forward on the patient’s last clinic letter.
Muscle Biopsy 
Frozen muscle specimen once routine histology is completed. Analysis will not begin until a routine histology report and consent forms are received at the Unit.
Specimen should be sent frozen and on dry ice. Please do not send fresh specimens. It is the responsibility of the requesting doctor to get the samples delivered safely to our laboratory, we are unable to provide any collection services. Please address the package to:
Ms Leigh Waddell
Institute for Neuroscience and Muscle Research
Neurogenetics Research Unit
The Children’s Hospital at Westmead
Dock 5, Redbank Road
T: +61 2 9845 1455

Fresh specimens will only be accepted upon prior approval from Unit staff, please contact 48 hours prior to specimen collection.
Skin Biopsy 
Fibroblast cultures should be grown to confluency, the flask filled to the top with media and sealed with cap and parafilm to prevent leakage. Cultures should be transported at room temperature.
DNA Samples for Sequence Analyses
Blood samples for DNA extraction can be sent at room temperature in EDTA tubes. Extracted DNA can also be transported at room temperature.  Proper coordination with our lab will ensure delivery without delay and hence quality of samples.
Please send patient clinical letters (as analysis will proceed upon the receipt of full clinical history for patient).  It is important to contact the Laboratory (02 9845 1455) at least 24 hours prior to sending specimens to ensure that staff are available to receive your specimen.
*** Please note that the Neurogenetics Research Unit is a research laboratory and testing is performed free of charge for research purposes rather than as a certified diagnostic service **