|
Services offered:
14/05/2007 updated by WK
|
Disease |
OMIM |
UKGTN service* |
|
Angelman syndrome |
105830 |
No |
|
Breast / ovarian
cancer (BRCA1) |
113705 |
No |
|
Breast / ovarian
cancer (BRCA2) |
600185 |
No |
|
CADASIL |
125310 |
Yes |
|
Congenital
Lymphoedema (Milroy’s disease) |
153100 |
Yes |
|
Fragile X
syndrome |
309550 |
No |
|
Huntington
disease |
143100 |
No |
|
Incontinentia
pigmenti |
308300 |
Yes |
|
Long QT syndrome
(predictives only) |
192500/603830 |
No |
|
Lymphoedema
distichiasis |
153400 |
Yes |
|
Marfan syndrome |
154700 |
Yes |
|
Myotonic
dystrophy type I |
160900 |
No |
|
Myotonic
dystrophy type II / PROMM |
602668 |
Yes |
|
Noonan syndrome |
163590 |
Yes |
|
Prader-Willi
syndrome |
176270 |
No |
|
Sotos syndrome |
117550 |
Yes |
|
UPD 14 |
608149 |
No |
|
*Services
offered outside main commissioning area geographical
boundaries
under the UK specialist Genetic Testing Network - enquire
to the
laboratory on costs.
|