ࡱ>    '` pbjbjLULU 6.?.?v[$ P, L nPh !!!8==,=]O_O_O_O_O_O_O$ShUO9JC74=JCJCO!!O8tJtJtJJC!R!]OtJJC]OtJtJLJ6"!M!\ Wv,:?tJ@@>>>OOJI*>>>nPJCJCJCJC              Pre-referral form  This is currently only a free service to patients living in England and Scotland. We are able to accept referrals from outside England and Scotland, but charges will have to be made (please enquire). In addition to this form, you must also provide us with a recent clinical summary letter and biopsy report if available. Please include clinical photographs and copy of BRAIN OR MUSCLE MRI if available AND RELEVANT. Referrals received without the necessary information will not be PROCESSED. pLEASE nOTE: oUR address FOR REFERRING BIOPSY SAMPLES  Please telephone 020 020 3448 4235 if you require clarification on any points before sending samples see contacts below. Please note this referral form replaces any earlier versions which you hold on file and should accompany all samples being sent to us. Any additional updates will be advised by email. Further information about the service can be found on our website and various documents can also be downloaded from the site at:  HYPERLINK "http://www.ich.ucl.ac.uk/gosh/clinicalservices/neuromuscular_services/Homepage" http://www.ich.ucl.ac.uk/gosh/clinicalservices/neuromuscular_services/Homepage 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 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 wish to discuss the case before referral contact: Dr. Stephanie Robb. Tel: 020 7405 9200; bleep: 2175 or  HYPERLINK "mailto:RobbS@gosh.nhs.uk" RobbS@gosh.nhs.uk or Prof. Francesco Muntoni,  HYPERLINK "mailto:f.muntoni@ich.ucl.ac.uk" f.muntoni@ich.ucl.ac.uk. To discuss the pathological features contact: Prof. Caroline Sewry. Tel: 020 3448 4235, email:  HYPERLINK "mailto:c.sewry@nhs.net" c.sewry@nhs.net or Dr Rahul Phadke Tel: 020 3448 4393, email:  HYPERLINK "rahul.phadke@uclh.nhs.uk%20" rahul.phadke@uclh.nhs.uk Other enquiries to: Dr. Lucy Feng,  HYPERLINK "mailto:Fengl@gosh.nhs.uk" Fengl@gosh.nhs.uk or Administrator, Ann Morris  HYPERLINK "mailto:MorriA7@gosh.nhs.uk" MorriA7@gosh.nhs.uk Tel: 020 3448 4235, Fax: 020 3448 4485. Four levels of service are offered. Please indicate which you require and complete ALL of the form. ( ( Clinical assessment ( ( Muscle biopsy analysis (histological, histochemical and immunohistochemical analysis) ( ( Biopsy slides for review ( ( DNA analysis (linkage & mutation analysis) * Loci ( LAMA2 ( COL6A1/2/3 ( SEPN1 ( RYR1 ( ACTA1 ( FKRP ( Fukutin ( POMT1/2 ( POMGnT1 ( LARGE ( MTM1 %DNM2 ( BIN1 ( TPM2 ( TPM3 ( CFL2 ( NEB (exon 55+linkage) * DNA and Blood samples and completed NCG referral form should be sent directly to: DNA Laboratory, Genetic Centre, 5th Floor Guy's Tower, Guy's Hospital, St Thomas Street, London, SE1 9RT Tel: 020 7188 2582/1714 Fax: 020 7188 7273. All other samples and this accompanying form should be sent to: Dubowitz Neuromuscular Centre, Department of Neuropathology, 1st Floor, Institute of Neurology, Queen Square House, Queen Square, London WC1N 3BG - Tel: 020 3448 4235 or Fax: 020 3448 4485. PATIENT INFORMATION Hosp. N: NHS N: Male/Female: Forename: Surname: D.O.B: Address:  Referring clinician:  Address for correspondence:   Specific reason for referral: ( Is result required urgently? if so, please state time frame DETAILS OF SPECIMEN: see accompanying document on how to collect & send clinical samples ( blood (DNA (muscle biopsy OCT Block (skin biopsy (cell culture ( slides (C.V.S DATE OF BIOPSY: TYPE OF BIOPSY: ( open (needle (fresh (frozen SITE OF BIOPSY: PATHOLOGICAL FINDINGS:  Note: Please provide a copy of muscle biopsy report if available with this form. Also, when supplying a muscle sample for analysis, please be advised the frozen OCT block is preferred. DATE & TIME SAMPLE RECEIVED (by DNC, Muscle Pathology Lab) CLINICAL INFORMATION: (tick where appropriate) ( DECREASED FETAL MOVEMENTS ( POLYHYDRAMNIOS ( HYPOTONIA ( Baby born at term ( Baby born prematurely, weeks of gestation ( CONGENITAL HIP DISLOCATION ( CONGENITAL CONTRACTURES, describe: ( DELAYED MOTOR MILESTONES ( JOINT LAXITY ( SKIN CHANGES, describe: AGE AT SYMPTOM ONSET: AGE AT SITTING: AGE AT WALKING: CURRENT FUNCTIONAL LEVEL: ( Ambulant and able to climb stairs ( Uses wheelchair full time ( Unable to climb stairs MAXIMAL MOBILITY ACHIEVED (if different): ( MUSCLE WEAKNESS: ( PROXIMAL ( DISTAL ( AXIAL ( BULBAR ( FACIAL ( PTOSIS ( RESPIRATORY (Describe pattern of weakness & age at onset):   ( SCOLIOSIS ( SPINAL RIGIDITY (FEEDING DIFFICULTIES (VENTILATORY SUPPORT ( GASTROSTOMY (RECURRENT CHEST INFECTIONS (FAILURE TO THRIVE (EPILEPSY ( LEARNING DIFFICULTY ( CARDIAC INVOLVEMENT (EYE INVOLVEMENT ( MALIGNANT HYPERTHERMIA REACTION ( POSTNATAL CONTRACTURES, (describe): ( MUSCLE WASTING (describe): ( MUSCLE HYPERTROPHY (describe): ( EMG, (describe): ( BRAIN MRI, (describe): CK LEVELS: AT AGE: Normal upper limits in your lab: ( MUSCLE MRI, (describe):  PRELIMINARY CLINICAL DIAGNOSIS AT REFERRAL: GENETIC HISTORY: ( CONSANGUINITY ( OTHER AFFECTED FAMILY MEMBERS: ( PEDIGREE INCLUDED ( NAME AND RELATIONSHIP OF OTHER AFFECTED MEMBERS (include clinical and biopsy details if possible)  ADDITIONAL ENCLOSURES: ( DETAILED CLINIC LETTER (essential to ensure full interpretation of muscle biopsy findings) ( MUSCLE MRI (if available) on CD or via GOSH image exchange portal ( BRAIN MRI (if available) on CD or via GOSH image exchange portal ( CLINICAL PHOTOGRAPHS (if available/indicated) Signed: Date:     Dubowitz Neuromuscular Centre  FILENAME GOSH NCG referral form Nov 2011 Great Ormond Street Hospital for Children NHS Trust NCG National Referral Centre for Congenital Muscular Dystrophies and Myopathies Head of Service: Prof. Francesco Muntoni Page  PAGE 1 of  NUMPAGES 4  FILENAME \p C:\Documents and Settings\rachel.tomkys\Local Settings\Temporary Internet Files\OLK5\GOSH NCG referral form Nov 2011.doc  DATE \@ "dd/MM/yyyy" 02/11/2011  FILENAME \p C:\Documents and Settings\rachel.tomkys\Local Settings\Temporary Internet Files\OLK5\GOSH NCG referral form Nov 2011.doc  DATE \@ "dd/MM/yyyy" 02/11/2011 Dubowitz Neuromuscular Centre  FILENAME GOSH NCG referral form Nov 2011 Great Ormond Street Hospital for Children NHS Trust NCG National Referral Centre for Congenital Muscular Dystrophies and Myopathies Head of Service: Prof. Francesco Muntoni Page  PAGE 1 of  NUMPAGES 4  FILENAME \p C:\Documents and Settings\rachel.tomkys\Local Settings\Temporary Internet Files\OLK5\GOSH NCG referral form Nov 2011.doc  DATE \@ "dd/MM/yyyy" 02/11/2011 Patient Post Code (essential) _______________________ National Referral Centre for Congenital Muscular Dystrophies and Myopathies Funded through the National Commissioning Group (NCG). 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