|
Disease |
OMIM |
UKGTN service*
(Approved, Pending, N/A) |
|
Achondroplasia/Hypochondroplasia |
100800/146000 |
yes |
|
Breast/ovarian cancer : familial |
113705 |
no |
|
Cardio Facio
Cutaneous
Syndrome |
115150 |
yes |
|
Catecholaminergic
Polymorphic Ventricular Tachycardia |
604772 |
yes |
|
Congenital Adrenal Hyperplasia |
201910 |
yes |
|
Costello Syndrome |
218040 |
yes |
|
Cystic Fibrosis (rare mutation testing) |
219700 |
yes |
|
Doyne
Honeycomb Retinal Dystrophy |
126600 |
yes |
|
Duchenne/Becker
Muscular Dystrophy |
310200 |
yes |
|
Fetal
sexing (non invasive prenatal diagnosis) |
- |
yes |
|
Fragile X disease |
309550 |
yes |
|
Gastro Intestinal
Stromal Tumours |
606764 |
yes |
|
Hereditary non
Polyposis Colon Cancer |
114500 |
no |
|
Huntington's Disease/DRPLA |
143100/607462 |
yes |
|
Late Onset Retinal Dystrophy |
605670 |
yes |
|
Lowe's syndrome |
309000 |
yes |
|
Macular Dystrophy |
169150 |
yes |
|
Neurofibromatosis type2 |
101000 |
yes |
|
Norrie Disease |
310600 |
yes |
|
Prader Willi/Angelman syndrome/UBE3A |
176270/105830/601623 |
yes |
|
Pseudoachondroplasia |
17715 |
yes |
|
Rare disease service |
- |
yes |
|
Retinoblastoma |
180200 |
yes |
|
Retinitis Pigmentosa |
300389/180380/170710 |
yes |
|
Shwachman
Diamond Syndrome |
260400 |
yes |
|
Sorsby’s
Fundus Dystrophy |
136900 |
yes |
|
Steroid Resistant
Nephrotic Syndrome |
600995 |
yes |
|
X-linked Hydrocephalus |
308840 |
yes |