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Address |
Clinical Bochemistry
London UCL Hospitals
60
Whitfield St
London W1T 4EU |
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Contact 1 |
Dr Gill Rumsby |
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Contact 2 |
Dr Emma Williams |
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Contact 3 |
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Telephone 1 |
0845 155 5000 ext2955 |
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Telephone 2 |
0845 155 5000 ext 2961 |
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Fax: |
020 7380 9584 |
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Email 1 |
gill.rumsby@uclh.nhs.uk |
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Email 2 |
Emma.l.williams@uclh.nhs.uk |
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Email 3 |
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Home page |
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Services offered:
29/07/08 update
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Disease |
OMIM |
UKGTN service* |
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Primary hyperoxaluria type 1 |
259900/604285 |
Yes |
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Primary hyperoxaluria type 2 |
260000/604296 |
Yes |
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Congenital adrenal hyperplasia
(11beta-hydroxylase deficiency) |
202010/610613 |
Yes |
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Cytochrome
C oxidase deficiency (Sco1, Sco2, Surf1) |
Sco1
220110/603644
Sco2
220110/604272
Surf1
220110/185620 |
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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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