|
Services offered:
17/08/2006 update by AGD
|
Disease |
OMIM |
UKGTN service* |
|
Achondroplasia; FGFR3 |
100800 |
|
|
Alpha 1 Antitrypsin deficiency; AAT [SERPINA1] |
107400 |
|
|
Cerebellar ataxias (SCA1, SCA2, SCA3, SCA6, SCA7, SCA8 and DRPLA) |
164400 183090 109150 183086 164500 608768 125370 |
|
|
Cystic Fibrosis; CFTR |
219700 |
|
|
Di George Syndrome |
188400 |
|
|
Fragile X
syndrome; FMR1 |
309550 |
|
|
Friedreich's Ataxia 1; FRDA |
229300 |
|
|
Hereditary Haemorrhagic Telangiectasia 1 & 2 (ENG, ACVRL1 [ALK1]) |
187300 600376 |
YES |
|
HNPCC (MSH2, MSH6) |
120435 600678 |
|
|
Huntington
Disease; HD |
143100 |
|
|
Myotonic Dystrophy; DMPK |
160900 |
|
|
Ornithine Transcarbamylase
Deficiency; OTC |
311250 |
YES |
|
QF-PCR
(chromosomes 13, 18, 21, X, Y) |
|
|
|
Rett syndrome;
MECP2 |
312750 |
|
|
Spinal and Bulbar
Muscular Atrophy,
X-linked 1; SMAX1 |
313200 |
|
|
Spinal Muscular
Atrophy (SMA1, SMA2, SMA3) |
25330 253550
253400 |
|
|
X-linked disorders
with known map locations (Over 300
microsatellite markers available) |
|
|
|
Zygosity analysis |
|
|
|
|
|
|
*Services offered outside main commissioning area
geographical
boundaries under the UK specialist Genetic Testing Network -
enquire
to the laboratory on costs.
|