This partnership between Newcastle University and The Newcastle upon Tyne Hospitals NHS Foundation Trust Hospitals brings together and consolidates Newcastle’s distinguished, international and world-leading record in research and care for neuromuscular diseases.
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Patients with a suspected diagnosis of LGMD or overlapping clinical condition can be seen at Newcastle or have muscle or DNA sent for analysis:
- Protein analysis is performed within the Muscle Immunoanalysis Unit (MIU). Immunohistochemical and immunoblotting techniques are applied to skeletal muscle biopsy samples.
- Molecular genetic analysis of a panel of genes to identify disease causing variants. Classification of variants of uncertain clinical significance is also undertaken.
Referrals
Before sending any muscle samples to our service; A pre-referral form and copies of any relevant clinical information (pathology report, clinic letters, MRI report etc.) must be sent for review. This helps with triage and guides what testing is required.
Turnaround times
the unit aims to issue finalised reports within 84 days of sample receipt. Please contact the unit for the referral of clinically urgent cases.