|
Services offered:
18/08/06 update by Dr Lisa Thompson
|
Disease |
OMIM
Gene,
Disease |
UKGTN service* |
|
Alpha thalassaemia |
141800 141850
(604131) |
YES |
|
Beta thalassaemia |
141900
(603902) |
YES |
|
Delta-beta thalassaemia |
142000
(141749
142470 142335) |
YES |
|
Factor V Leiden |
176860
(227400) |
YES |
|
Gibert’s syndrome |
191740
(143500) |
|
|
Glucose-6-phosphate dehydrogenase deficiency |
305900
(305900) |
YES |
|
Haemoglobin structural variants |
141800 141900 141850 (142309) |
YES |
|
Hereditary Persistence of Fetal Haemoglobin (HPFH) |
141900 142200 142000 142250
(141749 142470 142335) |
YES |
|
Prothrombin 20210 (factor II) |
176930
(176930) |
YES |
|
Sickle cell disease |
141900
(603903) |
YES |
|
Thalassaemias |
141900 141800 141850 142000
(604131) |
YES |
|
|
|
|
*Services offered outside
main commissioning area geographical
boundaries under the UK
specialist Genetic Testing Network - enquire
to the laboratory on
costs.
|