|
Disease |
OMIM |
UKGTN service* |
|
Alpha-1 antitrypsin deficiency |
107400 |
|
|
Aneuploidy screen, chromosomes 13,18, and 21,
also X and Y if indicated (prenatal and
postnatal) |
|
|
|
Angelman Syndrome |
105830 |
YES |
|
Breast / ovarian cancer (familial) |
113705 |
YES |
|
CADASIL |
600276 |
YES |
|
Cystic Fibrosis |
219700 |
|
|
CHARGE |
214800 |
YES |
|
DRPLA (Dentatorubral-pallidolusian atrophy) |
125370 |
|
|
Duchenne / Becker Muscular Dystrophy
|
310200 300276 |
YES |
|
Factor V Leiden |
227400 |
|
|
Fragile X: A |
309550 |
|
|
Friedreich Ataxia |
229300 |
|
|
Haemochromatosis |
235200 |
|
|
Incontinentia Pigmenti |
308300 |
YES |
|
Lesch-Nyhan
Syndrome |
308000 |
YES |
|
MTHFR (Methylenetetrahydrofolate reductase
mutation) |
607093 |
|
|
Molar Pregnancy |
231090 |
|
|
Nephronophthisis (Familial juvenile) |
256100 |
YES |
|
Prader Willi Syndrome |
176270 |
|
|
Prothrombin
(20210A mut) (Factor II) |
176930 |
|
|
Severe Myoclonic Epilepsy of Infancy (SMEI) |
607208 |
YES |
|
Spinal and Bulbar Muscular Atrophy |
313200 |
|
|
X-inactivation |
|
|
|
Y-deletion screen |
|
|
|
|
|
|