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Regional Genetics Service
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Address |
Northern Ireland
Regional Genetics Laboratories
A Floor
Belfast City Hospital
Belfast Hospitals
Trust
Lisburn Road
BELFAST
BT9 7AB |
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Contact 1 |
Dr. Colin Graham |
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Contact 2 |
Diane Beattie |
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Contact 3 |
Peter Logan |
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Telephone 1 |
028 9026 3885 |
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Telephone 2 |
028 9032 9241 ext 3173 |
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Fax: |
028 9023 6911 |
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Email 1 |
colin.graham@belfasttrust.hscni.net |
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Email 2 |
diane.beattie@belfasttrust.hscni.net |
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Email 3 |
peter.logan@belfasttrust.hscni.net |
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Home page |
http://www.bll.n-i.nhs.uk/medgen2/medgencontents.htm |
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Services offered: 07/07/08
update part 1
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Disease |
OMIM |
UKGTN service* |
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Breast/ovarian cancer; BRCA1 and BRCA2 |
113705, 600185 |
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Cystic Fibrosis |
219700 |
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Cerebellar
ataxias (SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA) |
164400, 183090, 109150, 183086, 164500, 125370 |
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Duchenne/Becker
Muscular Dystrophy |
310200 |
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Familial Hypercholesterolaemia (LDLR, APOB and APOE) |
#143890, #144010, *606945, +107730 |
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Fragile X disease;
FMR1 |
309550 |
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Hereditary non
Polyposis Colon Cancer |
120435 120436
158320, 609309 |
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Huntington's
Disease |
143100 |
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Myotonic Dystrophy |
160900 |
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Prader
Willi syndrome
Angelman syndrome |
176270
105830 |
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Zygosity Analysis |
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*Services offered outside
main commissioning area geographical
boundaries under the UK
specialist Genetic Testing Network - enquire to the laboratory on
costs.
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