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Aberdeen
Regional Genetics Service
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Address |
Molecular Genetics,
Department of Medical Genetics,
Polwarth
Building,
University of Aberdeen,
Foresterhill,
Aberdeen
AB25 2ZD |
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Contact 1 |
Dr KF Kelly |
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Contact 2 |
Ms C
Clark |
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Contact 3 |
Dr C
Bell |
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Telephone 1 |
01224
553888 |
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Telephone 2 |
01224
559972 |
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Fax: |
01224
559390 |
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Email 1 |
kfkelly@nhs.net |
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Email 2 |
carolineclark4@nhs.net |
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Email 3 |
christinebell2@nhs.net |
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Home page |
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Services offered:
20/August/2009 update
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Disease |
OMIM |
UKGTN service* |
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Arrhythmogenic right ventricular cardiomyopathy (ARVC) PKP2 |
602681 |
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Breast Cancer (BRCA1) screen and known mutation |
113705 |
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Breast Cancer (BRCA2) MLPA only |
600185 |
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Cystic fibrosis CFTR |
219700 |
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Factor V Leiden |
227400.0001 |
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Familial hypercholesterolaemia
LDLR sequence; common mutations in ApoB, PCSK9 |
143890,107730,
607786 |
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Fragile X FMR1 |
309550 |
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Glucocorticoid remediable aldosternonism GRA
(hyperaldosteronism) |
103900 |
YES |
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Haemochromatosis |
235200 |
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Hereditary motor sensory neuropathy (HMSN, Charcot Marie Tooth,
X-linked)) Hereditary liability to pressure
palsy (HLPP) |
118220, 304040, 162500 |
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Long QT syndrome (KCNQ1, KCNH2,
SCN5A, KCNE1, KCNE2) |
607542, 152427, 600163, 176261, 603796 |
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Myotonic dystrophy
type 1 |
160900 |
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Myotonic dystrophy
type 2 |
602668 |
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Overgrowth syndrome RNF135 mutations |
611358 |
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Prothrombin
20210G-A |
176930.0009 |
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Telomere
deletion/duplication |
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Torsion dystonia
DYT1 |
605204 |
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QF-PCR
(chromosomes 13,18 21) |
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X-linked West syndrome ARX mutation |
300382 |
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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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