|
Disease |
OMIM |
UKGTN service* |
|
Autosomal
Dominant Polycystic Kidney Disease (types 1 and
2) - Adult
Linkage only |
601313 173910
|
YES |
|
ARX |
300432, 308350 |
YES |
|
Autosomal
Recessive Polycystic Kidney disease, Infantile
(linkage and mutation screening) |
263200
|
YES |
|
Cystic Fibrosis
|
219700 |
|
|
Deafness, non-syndromic
sensorineural; DFNB1 (GJB2 / GJB6) |
220290 |
YES |
|
Duchenne / Becker
Muscular Dystrophy |
310200 300376 |
|
|
Ectodermal
Dysplasia - Anhydrotic |
305100 224900 |
YES |
|
Familial
Adenomatous Polyposis Coli
|
175100
|
|
|
Familial breast /
ovarian cancer
|
114480
|
|
|
Fascio scapulo
humoral Dystrophy |
158900
|
YES |
|
Fetal sexing
|
|
|
|
Fragile X (A)
disease |
309550 |
|
|
Fragile X (E)
disease |
309548 |
YES |
|
Friedreich’s
ataxia |
229300 |
|
|
HNPCC |
120435 120436
158320 |
|
|
Huntington disease |
143100 |
|
|
Infantile spasms
syndrome, X-linked (ISSX) |
308350 |
YES |
|
Lissencephaly
(LIS-1 gene) |
607432 |
YES |
|
Lissencephaly -XL
(DCX gene) |
300121 300067 |
YES |
|
MUTYH (multiple
colorectal adenomas) |
604933 |
YES |
|
Myotonic
Dystrophy 1 |
160900 |
|
|
Neurofibromatosis
Type 1 |
162200 |
YES |
|
Optic atrophy,
autosomal dominant (OPA1) |
165500 |
YES |
|
Parkinsons disease,
Young onset |
168600 |
YES |
|
PROMM (Myotonic
dystrophy 2) |
116955 |
YES |
|
Rett Syndrome |
312750 |
YES |
|
Spinal Cerebellar
Ataxia types 1, 2, 3 (Machado joseph), 6 & 7 |
164400 183090
109150 183086 164500 |
|
|
Tuberous
Sclerosis Type 1/2 |
191100 191092 |
YES |
|
Xq28 XLMR
syndrome; duplications of MECP2 gene |
300260 |
YES |
|
|
|
|