|
Disease |
OMIM |
UKGTN service* |
|
Achondroplasia |
100800 |
|
|
Adenomatous Polyposis coli; APC and MYH |
175100, 608456 |
YES |
|
Adult Polycystic Kidney disease (linkage only) |
173910 |
|
|
Alport syndrome,
X-linked (linkage only) |
301050 |
|
|
Androgen insensitivity/Testicular feminisation (linkage only) |
300068 |
|
|
Arc syndrome; VPS33B |
208085 |
|
|
Beckwith Wiedemann syndrome |
130650 |
YES |
|
Birt Hogg Dubé; FLCN |
135150 |
|
|
Breast/ovarian cancer; BRCA1 and BRCA2 |
113705, 600185 |
YES |
|
Cerebellar
ataxias (SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA) |
164400, 183090, 109150, 183086, 164500, 125370 |
|
|
Charcot Marie Tooth disease; PMP22, MPZ(Po) and
CX32(GJB1) |
118200, 601097, 159440, 304040 |
|
|
Chimaerism
monitoring:
Bone marrow/lineage specific |
|
|
|
Cystic Fibrosis |
219700 |
|
|
Deafness;
CX26(GJB2) and CX30(GJB6) |
121011, 604418 |
|
|
Duchenne/Becker
Muscular Dystrophy |
310200 |
|
|
Gorlin syndrome |
109400 |
YES |
|
Haemachromatosis;
HFE |
235200 |
|
|
Hereditary
liability to pressure palsies (HNPP) |
162500 |
|
|
Hereditary non
Polyposis Colon Cancer |
120435 120436
158320, 609309 |
YES |
|
Fragile X disease;
FMR1 and FMR2 |
309550, 309548 |
|
|
Gastric cancer,
familial; ECAD/CDH1 |
192090 |
YES |
|
Huntington's
Disease |
143100 |
|
|
Laron syndrome;
GHR (p.R274T detection only) |
600946 |
|
|
Leukemia: ALL,
AML, CLL, CML: Fusions
BCR/ABL
AML1/ETO
TEL/AML1
CBFB/MYH11
PML/RARA
FLT3-ITD |
151410
133435
151385
121360, 160745
102578
136351 |
|
|
Marfan disease
(linkage only) |
154700 |
|
|
Myeloproliferative
diseases (MPD); JAK2 |
147796 |
|
|
Myotonic Dystrophy |
160900 |
|
|
Paragangliomas,
familial; SDHB and SDHD |
168000,115310 |
YES |
|
Pituitary dwarfism III; PIT1 and PROP1 |
173110, 601538 |
YES |
|
Prader
Willi syndrome
Angelman syndrome |
176270
105830 |
|
|
Renal cell
cancer, papillary |
164860 |
YES |
|
Spinal and Bulbar
Muscular Atrophy |
313200 |
|
|
Spinal Muscular
Atrophy |
253300 |
|
|
Sotos syndrome |
117550 |
YES |
|
Uniparental disomy |
|
|
|
Von-Hippel Lindau
disease |
193300 |
YES |
|
Warburg Micro
syndrome; RAB3GAP |
600118 |
|
|
Wolfram Syndrome
(DIDMOAD); WFS1 |
606201 |
YES |
|
X-inactivation |
|
|
|
Zygosity Analysis |
|
|
|
|
|
|