|
Aberdeen
Regional Genetics Service
|
Address |
Molecular Genetics,
Department of Medical Genetics,
Polwarth
Building,
University of Aberdeen,
Foresterhill,
Aberdeen
AB25 2ZD |
|
Contact 1 |
Dr KF Kelly |
|
Contact 2 |
Ms C
Clark |
|
Contact 3 |
Dr C
Bell |
|
Telephone 1 |
01224
553888 |
|
Telephone 2 |
01224
559972 |
|
Fax: |
01224
559390 |
|
Email 1 |
kfkelly@nhs.net |
|
Email 2 |
carolineclark4@nhs.net |
|
Email 3 |
christinebell2@nhs.net |
|
Home page |
|
|
|
|
Services offered: 27/04/08
update
|
Disease |
OMIM |
UKGTN service* |
|
Arrhythmogenic right ventricular cardiomyopathy (ARVC) PKP2 |
602681 |
|
|
Breast Cancer (BRCA1) screen and known mutation |
113705 |
|
|
Breast Cancer (BRCA2) MLPA only |
600185 |
|
|
Cystic fibrosis CFTR |
219700 |
|
|
Factor V Leiden |
227400.0001 |
|
|
Familial adenomatous polyposis (FAP) (screen and known mutation) |
175100 |
|
|
Fragile X FMR1 |
309550 |
|
|
Glucocorticoid remediable aldosternonism GRA
(hyperaldosteronism) |
103900 |
YES |
|
Haemochromatosis |
235200 |
|
|
Hereditary motor sensory neuropathy (HMSN, Charcot Marie Tooth,
X-linked)) Hereditary liability to pressure
palsy (HLPP) |
118220, 304040, 162500 |
|
|
HOCM Familial hypertrophic cardiomyopathy (TNNT2, MYH7) |
160760, 191045 |
|
|
Long QT syndrome (KCNQ1, KCNH2,
SCN5A, KCNE1, KCNE2) |
607542, 152427, 600163, 176261, 603796 |
|
|
MYH polyposis
(limited screen) |
604933 |
|
|
Myotonic dystrophy
type 1 |
160900 |
|
|
Myotonic dystrophy
type 2 |
602668 |
|
|
Prothrombin
20210G-A |
176930.0009 |
|
|
Telomere
deletion/duplication |
|
|
|
Torsion dystonia
DYT1 |
605204 |
|
|
QF-PCR
(chromosomes 13,18 21) |
|
|
|
Zygosity analysis |
|
|
|
|
|
|
*Services offered outside
main commissioning area geographical
boundaries under the UK
specialist Genetic Testing Network - enquire
to the laboratory on
costs.
|
|
|