Dubowitz Neuromuscular CentreNSCT National Service referral form Ed18-final FMAS_RP-formated6

Great Ormond Street Hospital for Children NHS Foundation Trust
NSCT National Referral Centre for Congenital Muscular Dystrophies and Myopathies

Head of Service: Prof. Francesco MuntoniPage 1 of 7

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).

FOUR LEVELS OF SERVICE ARE OFFERED.TICK AS APPROPRIATE

Clinical assessment

Muscle biopsy/slides analysis

histological, histochemical, immunohistochemical and EM

Collagen 6 FACS analysis on fibroblast cultures

DNA analysis

(full list of genes analysed listed in next page, please tick as appropriate)

Referrals for clinical assessments should be sent to: Prof F Muntoni or Dr A Sarkozy at Level 9, Nurses Home, Great Ormond Street Hospital, London WC1N 3JH. If you wish to discuss the request, please contact Dr. A Sarkozy Tel: 020 7405 9200 ext 6674 or Prof. F Muntoni at .

Referrals for muscle biopsy/slides analysis and Collagen 6 FACS analysis 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 . If you wish to discuss the pathological features, please contact: Prof. C Sewry email: or Dr. R Phadke email Tel: 020 3448 4393. Referrals for Collagen 6 FACS analysis must be discussed prior to dispatching with Dr. A Sarkozy Tel: 020 7405 9200 ext 6674 or

~ Please, telephone the laboratory prior to dispatching the samples ~

~Site of the biopsy must be clearly indicated on the form~

Referrals for DNA analysis should be sent directly to: DNA Laboratory, Genetic Centre, 5th Floor Tower Wing, Guy's Hospital, St Thomas Street, London SE1 9RT – Tel: 020 7188 2582/1714 Fax: 020 7188 7273. If you wish to discuss the request, please contact Dr. A Sarkozy Tel: 020 7405 9200 ext 6674, or Dr Rachael Mein at the Viapath laboratory, .

~ DNA referralsmust include detailed clinic letters andMB report (if available)~

REFERRALS WITH INCOMPLETE REFERRAL FORMS WILL NOT BE ACCEPTED

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, MRI review in selected cases and genetic analyses. The combination of these approaches is needed to offer an informed opinion because of the heterogeneity within this group of disorders. Supporting information should be provided at time of referral to speed up gatekeeping process

NEXT GENERATION SEQUENCING GENE PANELS (@July 2016):

Congenital myopathies:

ACTA1, CCDC78, BIN1, KLHL41, CFL2, KLHL40, DNM2, ECEL1, SLC35A3, KBTBD13, MYBPC1, KBTBD13,PIEZO2, MTM1, MYH2, VPS33B, MYH3, LAMP2, MYH7, VMA21, MYH8, STAC3, NEB, LMOD3, ORAI1, MEGF10, RYR1, EPG5, SEPN1, STIM1, STIM2, TNNI2, TNNT1, TNNT3, TPM2,TPM3. TTN analysis is in development (available on specific requests, to be discussed with Dr Sarkozy).

Congenital muscular dystrophies:

B3GALNT2, GMPPB, B3GNT1, GTDC2, CHKB, ISPD, COL12A1, ITGA7, COL4A1, ITGA9, COL4A2, LAMA2, COL6A1, LARGE, COL6A2, MICU1, COL6A3, PLEC, DAG1, POMGNT1, DOLK, POMT1, DPM1, POMT2, DPM2, SGK196, DPM3, SIL1, FKRP, TMEM5, FKTN

PLEASE NOTE: Sanger sequencing of single/multiple genes and COL6A1 intronic variant is not routinely offered. For specific queries, please contact Dr Mein or Dr Sarkozy.


PATIENT INFORMATION

Hosp. Nº: NHS Nº: Male/Female: ______

Forename: Surname: D.O.B: ______

Address: ______

Referring clinician: ______

Address for correspondence:

Specific reason for referral:

PRELIMINARY CLINICAL DIAGNOSIS AT REFERRAL:

Is result required urgently? If so, please state reason and 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):______

SITE OF BIOPSY (Essential): ______

TYPE OF BIOPSY: openneedlefreshfrozen (OCT block preferred)

PATHOLOGICAL FINDINGS (please enclose report)______

CLINICAL INFORMATION: (tick where appropriate)

ONSET: AGE:______SYMPTOMS AT ONSET:______

______

 DECREASED FETAL MOVEMENTS  POLYHYDRAMNIOS  WEEKS OF GESTATION ______

 HYPOTONIA  CONGENITAL HIP DISLOCATION  JOINT LAXITY AT BIRTH

 CONGENITAL CONTRACTURES (describe):______

 DELAYED MOTOR MILESTONES

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):______

AGE AT LOSS OF AMBULATION:______

MUSCLE WEAKNESS:PROXIMAL UPPER LIMBS DISTAL UPPER LIMBS

PROXIMAL LOWER LIMBS DISTAL LOWER LIMBS AXIAL BULBAR FACIAL

PTOSIS OPHTALMOPLEGIA

(Describe pattern of weakness & age at onset): ______

______

FEEDING DIFFICULTIES FAILURE TO THRIVE GASTROSTOMY

SCOLIOSIS  SPINAL RIGIDITY  SKIN FEATURES (describe)______

 JOINT LAXITY POSTNATAL CONTRACTURES, (describe): ______

CARDIOMYOPATHY  CARDIAC CONDUCTION DEFECT

RESPIRATORY (FVC value, recurrent chest infections, FVC value, ventilatory support): ______

______

 MUSCLE WASTING (describe):______

 MUSCLE HYPERTROPHY (describe): ______

 MUSCLE MRI (describe/enclose report): ______

______

STRUCTURAL EYE INVOLVEMENT  Cataracts MALIGNANT HYPERTHERMIA REACTION

LEARNING DIFFICULTY EPILEPSY  MICROCEPHALY

 BRAIN MRI (describe/enclose report):______

______

EMG /NCV(describe/enclose report, specify if SFEMG done): ______

______

ADDITIONAL FINDINGS:______

CK LEVELS:______AT AGE:______Normal upper limits in your lab:______

GENETIC TESTS: ______

______

WAS THIS PATIENT ENROLLED IN RESEARCH STUDIES? (if yes, please detail):______

FAMILY HISTORY:

CONSANGUINITYOTHER AFFECTED FAMILY MEMBERS:

NAME AND RELATIONSHIP OF OTHER AFFECTED MEMBERS (include clinical and biopsy details if possible)

 ETHNICITY

PEDIGREE :

The referral includes:

DETAILED CLINIC LETTERS(mandatory)

MUSCLE BIOPSY REPORT (mandatory)

MUSCLE MRIImages on CD/via GOSH Image Exchange Portal

BRAIN MRI Imageson CD/via GOSH Image Exchange Portal

CLINICAL PHOTOGRAPHS (if available/indicated)

Signed:Date:

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