Dubowitz Neuromuscular Centre
Great Ormond Street Hospital for Children NHS Foundation Trust
National Specialised Commissioning Team Referral Centre for Congenital Muscular Dystrophies and Congenital Myopathies
Head of Service: Prof. Francesco Muntoni
Four levels of service are offered for paediatric cases:
· Clinical
assessment: If you
wish to discuss the case before referral contact: Dr. Stephanie Robb. Tel: 020
7405 9200; bleep: 2175 or Prof. Francesco
Muntoni.
· Muscle
biopsy analysis (histological, histochemical,
immunohistochemical
and EM analysis). To discuss
the pathological features contact: Prof. Caroline Sewry or Dr. Rahul Phadke, Tel.
0845 155 5000 ext. 84393, Direct:
020 3448 4393
· Muscle biopsy slides for review
· DNA analysis (undertaken at Guy’s DNA Laboratory) contact Dr. Stephen Abbs, Tel: 020 7188 1714
Further information about the service can be found on our website and various documents including referral form can also be downloaded from the site at: http://www.ucl.ac.uk/ich/research-ich/dubowitz
The results and advice we are able to give you will be generated using a combined approach incorporating clinical information, muscle biopsy analysis and genetic analysis. The combination of these approaches is needed to offer an informed opinion because of the heterogeneity within this group of disorders.
If you require clarification on any points before sending samples please contact:
Tel: 020 3448 4235
Fax: 020 3448 4486
|
All samples (except for DNA analysis) and accompanying NSCT referral form should be sent to: Dr. Lucy Feng Dubowitz Neuromuscular Centre 1st Floor Department of Neuropathology Institute of Neurology Queen Square London WC1N 3BG Tel: 020 3448 4235 Fax: 020 3448 4486 Email: lucy.feng@gosh.nhs.uk |
DNA samples and accompanying NSCT referral form should be sent to: Dr. Stephen Abbs DNA Laboratory Genetics Centre 5th Floor Guys Tower Guys Hospital St Thomas' Street London SE1 9RT Tel: 020 7188 2582/1714 Fax: 020 7188 7273 |
Page last modified on 31 aug 12 11:04
