|
Disease |
OMIM |
UKGTN service* |
|
Adrenoleukodystrophy (X-linked) |
300100 |
YES |
|
Aneuploidy (13,18,21,XY) |
|
|
|
Breast/ovarian cancer : familial BRCA1+2
(known familial mutations only) |
113705
600185 |
|
|
CADASIL |
125310 |
YES |
|
Charcot Marie Tooth disease(PMP22
duplication, PMP22 sequencing, MPZ sequencing,
connexin 32 sequencing, mitofusin sequencing) |
118200 |
YES |
|
Connexin 26 (sequencing) and
Connexin 30 (common deletion) |
12100,604418 |
|
|
Cystic Fibrosis |
219700 |
YES |
|
DRPLA |
125370 |
YES |
|
Duchenne / Becker Muscular Dystrophy
|
310200 300276 |
YES |
|
DYT1 |
605204 |
YES |
|
Familial Adenomatous Polyposis coli (Known
familial mutations only) |
175100 |
|
|
Fetal Sexing |
|
|
|
Fragile X
disease (FraxA+E) |
309548, 309550 |
YES |
|
Friedreich Ataxia (inc point mutations) |
229300 |
YES |
|
Gilbert’s
syndrome |
143500 |
YES |
|
Hereditary liability to pressure palsy
(PMP22 deletion, PMP22 sequencing) |
162500 |
YES |
|
Haemochromatosis |
235200 |
YES |
|
Pancreatitis - hereditary
(PRSS1) |
167800 |
YES |
|
Pancreatitis - idiopathic (SPINK1) |
167790 |
|
|
Hereditary Non Polyposis Colon Cancer |
114500 |
|
|
Huntington's
Disease |
143100 |
YES |
|
JAK2 (V617F) |
|
|
|
Lebers
Hereditary Optic Neuropathy |
535000 |
YES |
|
Leri-Weill dyschondrosteosis/
Langer mesomelic dysplasia (SHOX MLPA) |
127300,312865,
400020 |
|
|
MCAD |
201450 |
YES |
|
MECP2 sequencing + MLPA |
300005 |
|
|
Mitochondrial disorders (m.3243A>G, m.8344A>G,
m.8993T>C/G, large scale rearrangements) |
540000, 545000, 551500, 530000, 557000, 256000 |
YES |
|
Myotonic
Dystrophy type I |
160900 |
YES |
|
Myotubular Myopathy
(sequencing) |
310400 |
|
|
Nail Patella
Syndrome |
161200 |
YES |
|
Neuroferritinopathy |
606159 |
YES |
|
OPMD |
164300 |
|
|
Pantothenate Kinase Associated Neurodegeneration(aka
Hallervorden Spatz disease |
234200 |
YES |
|
Peutz-Jegher
syndrome |
175200 |
YES |
|
Prader Willi
/ Angelman syndrome |
176270 / 105830 |
YES |
|
Spinal and
Bulbar Muscular Atrophy |
313200 |
YES |
|
Spinocerebellar ataxias (SCA1, 2,
3,6,7 and 17). |
164400, 183090, 109150, 183086, 164500,
607136 |
YES |
|
Spinal
muscular atrophy (including carrier testing) |
253300 |
YES |
|
Telomere
deletion/duplication analysis |
|
|
|
Uveal Melanoma (MLPA analysis) |
|
|
|
Uniparental disomy – chromosome 7 and 14 |
|
YES |
|
Zygosity analysis |
|
YES |
|
|
|
|