|
Services offered:
29/09/2006 update
|
Disease |
OMIM |
UKGTN service* |
|
Breast/ovarian
cancer (BRCA1 and BRCA2) |
113705, 600185 |
YES |
|
Charcot-Marie-Tooth type 1A (pmp22 duplication
testing) |
118220, 601097 |
|
|
Charcot-Marie-Tooth X-linked (connexin 32) |
302800 |
|
|
Cystic Fibrosis |
219700 |
|
|
Duane-radial ray
(Okihiro) syndrome (SALL4) |
607323, 607343 |
|
|
Duchenne/Becker
Muscular Dystrophy |
310200, 300376 |
|
|
Fragile X
disease; FMR1 |
309550 |
|
|
Haemochromatosis |
235200 |
|
|
Holt-Oram
syndrome (TBX5, SALL4) |
142900, 601620,
607343 |
YES |
|
HNPP |
162500, 601097 |
|
|
Huntington
disease |
143100 |
YES |
|
LHON |
535000 |
|
|
Myotonic
Dystrophy |
160900 |
YES |
|
Prader Willi/Angelman
syndrome |
176270, 105830 |
|
|
QFPCR for rapid
aneuploidy screening |
|
|
|
UPD 7 |
|
|
|
UPD 14 |
608149 |
YES |
|
UPD15 |
176270, 105830 |
|
|
|
|
|
*Services
offered outside main commissioning area geographical
boundaries under the UK specialist Genetic Testing Network -
enquire
to the laboratory on costs.
|