|
Services offered:
April 08 update
|
Disease |
OMIM |
UKGTN service* |
|
Alexander disease |
203450 |
Yes |
|
Canavan
disease |
271900 |
Yes |
|
Cystic fibrosis |
219700 |
|
|
Fragile X syndrome |
300624 |
|
|
Haemochromatosis |
235200 |
|
|
Factor V (Leiden) |
227400.0001 |
|
|
Prothrombin
20210G>A |
176930.0009 |
|
|
HNPCC
– MSH2 |
120435 |
Yes |
|
HNPCC
– MLH1 |
120436 |
Yes |
|
HNPCC
– MSH6 |
600678 |
Yes |
|
HNPCC
tumour studies (MSI & MLH1 promoter methylation) |
n/a |
Yes |
|
FAP |
175100 |
Yes |
|
MYH
associated polyposis |
608456 |
Yes |
|
PTEN
hamartoma-tumour syndrome |
601728 |
Yes |
|
Peutz-Jegher
syndrome |
175200 |
Yes |
|
Juvenile Polyposis
syndrome |
174900 |
Yes |
|
|
|
|
|
|
|
|
|
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|
|
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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.
|