Genetics - general
The Clinical Genetics department is based at UHB and offers genetic assessment, investigations, diagnosis and counselling
Please include in your referral
• the patient's history (including detailed family history where relevant and available).
• clinical findings
• any safeguarding concerns
• need for interpreter or other special needs if relevant
• if the patient you are referring is pregnant, please make this clear in your referral.
If you are referring a relative of a person who has a confirmed genetic diagnosis or has been seen in genetics before, it is essential to include the name and date of birth for us to assess whether the referred patient needs to be seen in genetics and ideally a copy of their genetic investigation.
Genetic testing is usually only possible in a person with the condition (where there is not a known genetic mutation in the family).
The following conditions should not be referred to genetics:
- Hypermobility of joints (former EDS type 3) - see Joint Hypermobility section of Remedy.
- Haemochromatosis - consider referral to haematology. See Guidelines for primary care.
- Familial hypercholesterolaemia - refer to lipid clinic.
- Clotting disorders - consider referral to haematology. See Guidelines for primary care.
Referrals should be make via eRS. If considered inappropriate by the genetics service then referrals may be returned.
There is currently no Advice and Guidance service for genetics available on eRS but advice about appropriate referrals can be obtained by contacting the genetics service as below:
Bristol Regional Genetics Service
St Michael's Hospital
Tel: 0117 342 5107- Telephones are manned 9am to 5pm, Monday to Friday.
(Please note - requests for advice or clinic appointments are no longer available via FAX)