ࡱ>    *bjbjSS 611*U. ^ ^ $P  DHF`\rNN$4>b4v4 EEEEEEE$IZLEm7.,$4m7m7ENF;;;m76NE;m7E;;:A,X@eA]ֳ8-A EF0HF7A.La9LeAeA&LA(405|;5d6]444EE:444HFm7m7m7m7L444444444^ ~:     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). 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. 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) *** ( ( Collagen 6 FACS analysis on fibroblast cultures **** Gene ( LAMA2 ( COL6A1/2/3 ( SEPN1 ( RYR1 ( ACTA1 ( TPM2 ( TPM3 ( FKRP ( POMT1/2 ( POMGnT1 ( Fukutin ( LARGE ( CHKB ( MTM1 ( DNM2 ( BIN1 ( CFL2 ( ISPD ( GMPPB ( B3GALNT2 (NEB (via panel testing) ( Panel Diagnostic test for congenital myopathies (see gene list) *****  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 (CVS DATE OF BIOPSY (Essential): TYPE OF BIOPSY: ( open (needle (fresh (frozen (OCT block preferred) SITE OF BIOPSY: PATHOLOGICAL FINDINGS: (Please enclose copy of report) DATE & TIME SAMPLE RECEIVED (by DNC, Muscle Pathology Lab)________________________________________  PRELIMINARY CLINICAL DIAGNOSIS AT REFERRAL: 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 Unable to climb stairs Uses wheelchair full time 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 (FAILURE TO THRIVE ( GASTROSTOMY (RECURRENT CHEST INFECTIONS (VENTILATORY SUPPORT (CARDIOMYOPATHY ( CARDIAC CONDUCTION DEFECT ( LEARNING DIFFICULTY (EPILEPSY ( MICROCEPHALY ( BRAIN MRI (describe): (STRUCTURAL EYE INVOLVEMENT (PTOSIS (OPHTHALMOPLEGIA ( MALIGNANT HYPERTHERMIA REACTION ( POSTNATAL CONTRACTURES, (describe): ( MUSCLE WASTING (describe): ( MUSCLE HYPERTROPHY (describe): ( EMG (describe): ( MUSCLE MRI (describe):  CK LEVELS: AT AGE: Normal upper limits in your lab: 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: 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. It may not be possible to process Referrals without the necessary KEY clinical information (LISTED BELOW). This form should accompany all patient referrals, together with a detailed referral letter summarising the clinical history and results of investigations, as a minimum. For Collagen VI FACS analysis please view clinical criteria for collagen 6 FACS analysis from our website:  HYPERLINK "http://www.gosh.nhs.uk/medical-conditions/clinical-specialties/neuromuscular-information-for-parents-and-visitors/about-us/muscle-biopsy-service/" http://www.gosh.nhs.uk/medical-conditions/clinical-specialties/neuromuscular-information-for-parents-and-visitors/about-us/muscle-biopsy-service/ If possible, muscle biopsy slides and MRI images should be forwarded at the time of referral so that they can be reviewed in advance of the consultation. This facilitates the diagnostic process for families. ( DETAILED CLINIC LETTER (mandatory) ( MUSCLE MRI on CD or via the GOSH Image Exchange Portal* (if available/indicated) ( BRAIN MRI on CD or via the GOSH Image Exchange Portal (if available/indicated) ( CLINICAL PHOTOGRAPHS (if available/indicated) ( MUSCLE BIOPSY REPORT (if available/indicated) *Muscle and brain MRI images may be forwarded via the GOSH Image Exchange Portal. Clinical photographs may aid diagnosis if the patient is not being seen here. Signed: Date:     Dubowitz Neuromuscular Centre  FILENAME NSCT National Service referral form Ed 17 Final 2014 Great Ormond Street Hospital for Children NHS Foundation Trust NSCT National Referral Centre for Congenital Muscular Dystrophies and Myopathies Head of Service: Prof. Francesco Muntoni Page  PAGE 4 of  NUMPAGES 4  FILENAME \p W:\NM Biopsy\FORMS\NCG\NCG Referral Form - GOS address\NCG referral form Ed 22 Jun 2012 AM SR2.doc  DATE \@ "dd/MM/yyyy" 04/06/2014  FILENAME \p W:\NM Biopsy\FORMS\NSCT\NCG Referral Form - GOS address\NSCT National Service referral form Ed 17 Final 2014.doc  DATE \@ "dd/MM/yyyy" 04/06/2014 Dubowitz Neuromuscular Centre  FILENAME NCG referral form Ed 22 Jun 2012 AM SR2.doc 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 W:\NM Biopsy\FORMS\NCG\NCG Referral Form - GOS address\NCG referral form Ed 22 Jun 2012 AM SR2.doc  DATE \@ "dd/MM/yyyy" 04/06/2014 National Service Referral Form for Congenital Muscular Dystrophies and Myopathies *Referrals for clinical assessment should be sent to: Professor Francesco Muntoni, Dr Anna Sarkozy or Dr Adnan Manzur, Level 10, Nurses Home, Great Ormond Street Hospital, London WC1N 3JH. If you wish to discuss the case before referral contact: Dr. Anna Sarkozy Tel: 020 7405 9200 ext 7888 or  HYPERLINK "mailto:anna.sarkozy@gosh.nsh.uk" anna.sarkozy@gosh.nsh.uk or Prof. Francesco Muntoni,  HYPERLINK "mailto:f.muntoni@ucl.ac.uk" f.muntoni@ucl.ac.uk. **All pathology samples, muscle biopsy slides and fibroblasts cultures with completed referral form should be sent to: Dubowitz Neuromuscular Centre, 1st Floor Department of Neuropathology, Institute of Neurology, Queen Square House, Queen Square, London WC1N 3BG Tel: 020 3448 4235 or Fax: 020 3448 4486 or email  HYPERLINK "mailto:lucy.feng@gosh.nhs.uk" lucy.feng@gosh.nhs.uk TELEPHONE THE LABORATORY PRIOR TO DISPATCHING THE SAMPLES To discuss the pathological features contact: Prof. Caroline Sewry email:  HYPERLINK "mailto:c.sewry@nhs.net" c.sewry@nhs.net or Dr. Rahul Phadke email  HYPERLINK "mailto:rahul.phadke@uclh.nhs.uk" rahul.phadke@uclh.nhs.uk Tel: 020 3448 4393 *** DNA and Blood samples, with completed 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. If you wish to discuss the case before referral contact: Dr. Anna Sarkozy Tel: 020 7405 9200 ext 7888 or  HYPERLINK "mailto:anna.sarkozy@gosh.nsh.uk" anna.sarkozy@gosh.nsh.uk **** Referrals for collagen 6 FACS analysis must be discussed prior to dispatching with Dr. Anna Sarkozy Tel: 020 7405 9200 ext 7888 or  HYPERLINK "mailto:anna.sarkozy@gosh.nsh.uk" anna.sarkozy@gosh.nsh.uk *****Panel diagnostic test congenital myopathies tests for sequence variants+deletion/duplication of the following genes: ACTA1, BIN1, CFL2, DNM2, KBTBD13, MTM1, MYH2, MYH3, MYH7, MYH8, NEB, RYR1, SEPN1, TNNI2, TNNT1, TNNT3, TPM2, TPM3, ECEL1, ORAI1, STIM1, STIM2. Referrals for panel gene testing for congenital myopathies must be discussed prior to dispatching with Dr. Anna Sarkozy Tel: 020 7405 9200 ext 7888 or  HYPERLINK "mailto:anna.sarkozy@gosh.nsh.uk" anna.sarkozy@gosh.nsh.uk DNC Biopsy No.: (To be completed by DNC lab) Patient Post Code (Essential) _______________________ Has consent for storage of the sample been obtained? (Yes (No Has consent for using the sample for research been obtained? 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