REFERRAL FOR FOCUSED EXOME ANALYSIS AND MDT REVIEW

Please send completed form with sample to;Leeds Genetics Laboratories, Ashley Wing,St James’ Hospital, Beckett Street, LS9 7TFAND email copy to jh.livingston@nhs.net

PATIENT DETAILS: block capitals or ID label

Surname: ______________ First name: ______________

DOB: __________ NHS: ___________________ Sex: M / F

Address: _______________________________________

__________________________ Postcode: ____________

Ethnicity: _____________________ Consanguinity: Y / N

FOR LAB USE:

Lab No: _____________ PED: ______________

Tubes/Vol: _________ Date received: ________

CASE DETAILS

Age at presentation: _______

Reason for referral: ___________________________________________________________________________

___________________________________________________________________________________________

___________________________________________________________________________________________

___________________________________________________________________________________________

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Clinical features:

Developmental delay Learning impairment Regression (specify _____________________)

Encephalopathy Behavioural change Epileptic seizures (specify ________________)

Visual impairment Hearing impairment Dysmorphism (specify __________________)

Motor disorder ( hypotonia hypertonia spasticity dystonia ataxia other _____________________)

Non-neurological features (specify _____________________________________________________________)

Issues in pregnancy/neonatal period: ____________________________________________________________

Past medical history: __________________________________________________________________________

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FAMILY HISTORY

Other affected family member: Y / N (details _______________________________________________________

___________________________________________________________________________________________)

History of neurodevelopmental condition: Y/N (details _______________________________________________)

History of neurodegenerative condition: Y/N (details ________________________________________________)

Other relevant family history: ___________________________________________________________________

PREVIOUS INVESTIGATIONS

Lactate: _____________ Ammonia: _____________ Amino acids: _____________ Organic acids: _____________

VLCFA: ______________ White cell enzymes: _____________

CSF investigations: ___________________________________________________________________________

Muscle biopsy: _________________ Skin biopsy: _________________ Resp chain enzymes: ________________

Molecular genetic testing: _____________________________________________________________________

Other: _____________________________________________________________________________________

PREVIOUS IMAGING

CT head: Y (details __________________________________________________________________)

MRI head: Y (details __________________________________________________________________)

PLEASE SEND IMAGING FOR MDT REVIEW WHEN SENDING SAMPLE EITHER;

a) Via PACS FAO Dr JH Livingston, Paediatric Neurology, Leeds Teaching Hospitals Trustb) On an encrypted CD FAO Dr JH Livingston, Department of Paediatric Neurology, F Floor Martin Wing,

Leeds General Infirmary, Great George Street, LS1 3EX

Web: www.leedsth.nhs.uk/genetics