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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: