· Web viewREFERRAL FOR FOCUSED EXOME ANALYSIS AND MDT REVIEW PATIENT DETAILS: block capitals or...
Transcript of · Web viewREFERRAL FOR FOCUSED EXOME ANALYSIS AND MDT REVIEW PATIENT DETAILS: block capitals or...
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 [email protected]
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: ___________________________________________________________________________
___________________________________________________________________________________________
___________________________________________________________________________________________
___________________________________________________________________________________________
___________________________________________________________________________________________
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: __________________________________________________________________________
___________________________________________________________________________________________
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