|
Services offered:
16/04/2009
updated by WK
|
Disease |
OMIM |
UKGTN service* |
|
Angelman syndrome |
105830 |
No |
|
Beckwith-Wiedemann syndrome |
130650 |
Yes |
|
Breast / ovarian cancer (BRCA1) |
113705 |
No |
|
Breast / ovarian cancer (BRCA2) |
600185 |
No |
|
CADASIL |
125310 |
Yes |
|
Congenital Lymphoedema (Milroy’s disease) |
153100 |
Yes |
|
Costello syndrome |
218040 |
Yes |
|
Fragile X syndrome |
309550 |
No |
|
Hemihypertrophy |
130650 |
Yes |
|
Huntington
disease |
143100 |
No |
|
Incontinentia pigmenti |
308300 |
Yes |
|
LEOPARD syndrome |
151100 |
Yes |
|
Li-Fraumeni
syndrome |
151623 |
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 (PTPN11) |
163590 |
Yes |
|
Noonan syndrome (extended screen) |
Various |
Yes |
|
Prader-Willi syndrome |
176270 |
No |
|
Silver-Russell syndrome |
180860 |
Yes |
|
Sotos syndrome |
117550 |
Yes |
|
UPD 14 |
608149 |
No |
|
Wilms
Tumour |
194070 |
Yes |
*Services offered
outside main commissioning area geographical
boundaries under
the UK specialist Genetic Testing Network -
enquire to the
laboratory on costs. |