Download Oxford Inherited Eye Disease Referral Proforma for NGS Panel Testing

Oxford Inherited Eye Disease Referral Proforma for NGS Panel Testing
1. Patient Details:
Forename:
DOB:
Address:
Surname:
NHS No.:
Your Ref:
Post Code:
CLINICAL DETAILS
DIAGNOSIS:
Confirmed by EDTS (please circle) :
Yes
No
Age at onset:
Syndromic features (please tick)
Hearing Loss
Cardiac
Neurological
Skeletal
Endocrine
Dermatological
Learning Difficulties
Other (please specify)
Location of Disease (optional)
FAMILY HISTORY DETAILS
Family History (please tick)
Simplex
Dominant
X-linked
Recessive
Mitochondrial
Male to male transmission
Reduced penetrance
Consanguinity
Oxford Inherited Eye Disease NGS Referral Proforma v.1. (19/06/2015)
Family Pedigree
2. Test Request Details: (please tick)
Panel 1 – RP and RP-like phenotypes
Panel 2 – Syndromic retinal dystrophies
Panel 3 – Macular phenotypes
Panel 4 – Non-progressive conditions
Panel 5 – Stationary congenital night blindness
Panel 6 – Optic nerve disease
Panel 6+ – Optic nerve disease plus LHON mtDNA Mutations
3. Referral Details:
Referrer Details 1
Name:
Designation: (please tick) Ophthalmologist
Address for report:
Clinical Geneticist
Genetic Counsellor
Post code:
Address for invoice:
Post code:
Referrer Details 2
Name:
Designation: (please tick) Ophthalmologist
Address for report:
Clinical Geneticist
Genetic Counsellor
Post code:
Address for invoice:
Post code:
In submitting this sample the clinician confirms that genetic counselling has
been undertaken and consent for testing has been obtained.
Signature:
Name:
Please send DNA (1µg) or EDTA blood (5mls) to:
Oxford Regional Genetics Laboratories
Churchill Hospital
Old Road
Headington
Oxford
OX3 7LJ
Oxford Inherited Eye Disease NGS Referral Proforma v.1. (19/06/2015)
Date: