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Edinburgh
Molecular Genetics Service
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Address |
South East Scotland Genetic Service
David Brock Building
Western General Hospital
Crewe Road
Edinburgh
EH4 2XU
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Contact 1 |
Dr
Jon Warner |
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Contact 2 |
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Contact 3 |
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Telephone 1 |
+44
(0) 131 537 1116 |
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Telephone 2 |
+44
(0) 131 537 1270 |
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Fax: |
+44
(0) 131 537 1153 |
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Email 1 |
edinburgh.dna@luht.scot.nhs.uk |
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Email 2 |
jon.warner@luht.scot.nhs.uk |
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Email 3 |
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Home page |
http://www.nhslothian.scot.nhs.uk/ourservices/genetics/laboratory/ |
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Services offered:
07/04/10 update
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Disease |
OMIM |
UKGTN service*
(Approved, Pending, N/A) |
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Achondroplasia; FGFR3 |
100800 |
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Alpha 1 Antitrypsin deficiency; AAT [SERPINA1] |
107400 |
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Cerebellar ataxias (SCA1, SCA2, SCA3, SCA6, SCA7, SCA8 and DRPLA) |
164400 183090 109150 183086 164500 608768 125370 |
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Cystic Fibrosis; CFTR |
219700 |
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Di George Syndrome |
188400 |
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Fragile X syndrome; FMR1 |
309550 |
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Friedreich's Ataxia 1; FRDA |
229300 |
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Hereditary Haemorrhagic Telangiectasia 1 & 2 (ENG, ACVRL1 [ALK1]) |
187300 600376 |
YES |
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HNPCC (MSH2, MSH6) |
120435 600678 |
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Huntington
Disease; HD |
143100 |
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Hyertrophic Cardiomyopathy, Familial (MYH7, MYBPC3, MYL2, TNNI3,
TNNT2, TPM1) |
192600 115197
608758 191044
115195 115196 |
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Myotonic Dystrophy; DMPK |
160900 |
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Ornithine Transcarbamylase
Deficiency; OTC |
311250 |
YES |
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QF-PCR
(chromosomes 13, 18, 21, X, Y) |
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Rett syndrome;
MECP2 |
312750 |
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Spinal and Bulbar
Muscular Atrophy, X-linked 1; SMAX1 |
313200 |
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Spinal Muscular
Atrophy (SMA1, SMA2, SMA3) |
253300 253550
253400 |
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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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