Download Referral form - Alder Hey Children`s Hospital

Dubowitz Neuromuscular Centre
Hammersmith Hospitals NHS Trust
Imperial College Referral Centre for Congenital Muscular Dystrophies
769869543
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Edition: 1.0
Imperial College – Referral Centre for Congenital Muscular
Dystrophy
Funded through the National Specialist Commissioning Advisory Group (NSCAG). Department of Health
Pre-referral form
Note: We cannot accept samples unless this is completed
Please provide us with a recent clinical letter & clinical photographs and copy of MRI
imaging if available
This is currently only a free service to patients living in England and Scotland. We are able to accept biopsies and
DNA samples from outside England and Scotland, but charges will have to be made (please enquire).
The results and advice we are able to give you will be generated using a combined approach incorporating
 clinical information
 specialised analysis of muscle biopsy
 analysis of DNA from a blood sample
The combination of these approaches is needed to offer an informed opinion because of the heterogeneity within this
group of disorders.
SERVICES AND INVESTIGATIONS REQUIRED
tick where appropriate
Three levels of service are offered. Please indicate which you require and then fill in ALL of the form.




Loci
 LAMA2


Clinical assessment
Biopsy analysis
DNA analysis (linkage & mutation analysis) only for cases confirmed at the protein level. See Note 1
 FKRP
 COL6
 SEPN1
Return form to: Dr. Lucy Feng, Dubowitz Neuromuscular Centre, L.Block, 3rd Floor, Hammersmith Hospital, Du Cane
Road, London W12 ONN. Tel: 020 8383 2126; Fax: 020 8746 2187. [email protected]. To discuss the clinical
features contact: Dr. Stephanie Robb: Tel: 020 8383 3305; bleep: 9266; Secretary Tel: 020 8383 2485.
[email protected]. Other enquiries to: Mrs. Phil Davies (NSCAG Administrator) Tel: 020 8383 2127,
[email protected] or Dr. Cecilia Jimenez-Mallebrera Tel: 020 8383 2127 [email protected]
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Biopsy Nº:
l eave blank for admin
DNA Nº:
EM Nº:
PATIENT INFORMATION
Hosp. Nº:
NHS Nº:
Male/Female:
Forename:
Surname:
D.O.B:
Address:
Patient Post Code (essential)
Referring clinician/clinical scientist:
Address for correspondence:
_______________________
Specific reason for referral:
SPECIMEN
 blood
1
see accompanying document “How to collect & send clinical samples”
DNA muscle biopsy skin biopsy
C.V.S
cell culture
DNA/blood samples must be sent directly to Guy’s Hospital (see document “How to
collect & send clinical samples” for Address)
DATE essential! & TIME OF BIOPSY:
TYPE OF BIOPSY:
 open
needle
fresh
frozen
ANATOMICAL SITE:
Has consent for storage of the sample been obtained?
Has consent for processing the sample for research been obtained?
Yes
Yes
No
No
CLINICAL INFORMATION tick where appropriate
 DECREASED FOETAL MOVEMENTS  POLYHYDRAMNIOS  HYPOTONIA
 CONGENITAL HIP DISLOCATION  CONTRACTURES, describe:
 DELAYED MOTOR MILESTONES  JOINT LAXITY  SKIN CHANGES, describe:
AGE AT ONSET:
AGE AT SITTING:
CURRENT FUNCTIONAL LEVEL:



AGE AT WALKING:
Ambulant and able to climb stairs
Uses wheelchair full time
Unable to climb stairs
MAXIMAL MOBILITY ACHIEVED (if different):
 MUSCLE WEAKNESS:
 BULBAR  FACIAL
(Describe pattern of weakness & age at onset):
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 PTOSIS
 RESPIRATORY
SCOLIOSIS RIGIDITY SPINE FEEDING DIFFICULTIES VENTILATORY SUPPORT
GASTROSTOMY RECURRENT CHEST INFECTIONS FAILURE TO THRIVE EPILEPSY
LEARNING DIFFICULTIES MENTAL RETARDATION  CARDIAC INVOLVEMENT
EYE INVOLVEMENT CONSANGUINITY AFFECTED FAMILY MEMBERS:
(indicate family relationship)
RESULTS OF BRAIN IMAGING (describe):
CK LEVELS:
AT AGE:
Normal upper limits in your lab:
MUSCLE WASTING (describe):
HYPERTROPHY (describe):
PRELIMINARY CLINICAL DIAGNOSIS AT REFERRAL:
Signed:
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Date:
07/05/2017