|
Disease |
OMIM |
UKGTN service* |
|
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 |