|
Disease |
OMIM |
UKGTN service* |
|
Achondroplasia |
100800 |
|
|
Adenomatous Polyposis coli; APC and MYH |
175100, 608456 |
YES |
|
Alstrom syndrome |
203800 |
|
|
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 including lineage specific chimaerism |
|
|
|
Congenital adrenal
hyperplasia |
201910 |
|
|
Cystic Fibrosis |
219700 |
|
|
Deafness;
CX26(GJB2) and CX30(GJB6) |
121011, 604418 |
|
|
Duchenne/Becker
Muscular Dystrophy |
310200 |
|
|
Familial AML CEBPA
mutation analysis |
116897 |
|
|
Familial platelet
disorder with predisposition to acute myeloid
leukaemia (FPD/AML) RUNX1 mutation analysis |
601399 |
|
|
Fragile X disease;
FMR1 and FMR2 |
309550, 309548 |
|
|
Free fetal DNA
analysis for fetal sexing |
N/A |
YES |
|
Friedreich’s
ataxia |
229300 |
|
|
Gastric cancer,
familial; ECAD/CDH1 |
192090 |
YES |
|
Gorlin syndrome |
109400 |
YES |
|
Haemachromatosis;
HFE |
235200 |
|
|
Hereditary
liability to pressure palsies (HNPP) |
162500 |
|
|
Hereditary non
Polyposis Colon Cancer |
120435 120436
158320, 609309 |
YES |
|
Hereditary Leiomyomatosis and Renal Cell Cancer
/ Multiple Cutaneous and Uterine Leiomyomata (Fumarate
hydratase) |
605839, 150800,
136850 |
|
|
Huntington's
Disease |
143100 |
|
|
Infantile
neuroaxonal dystrophy (INAD) |
256600 |
|
|
Laron syndrome;
GHR (p.R274T detection only) |
600946 |
|
|
Leukemia:
BCR-ABL1
AKD mutation
analysis in BCR/ABL1
RUNX1-RUNX1T1
(AML1/ETO)
ETV6-RUNX1
(TEL-AML1)
CBFB-MYH11
PML-RARA
FLT3-itd mutations
NPM1 mutations
CEBPA mutations
KIT D816V mutation
analysis
JAK2 V617F |
151410
133435
151385
121360, 160745
102578
136351
164040
116897
164920
147796 |
|
|
Marfan disease
(linkage only) |
154700 |
|
|
Multiple endocrine
neoplasia |
|
|
|
Multiple pterygium
syndrome |
|
|
|
Myeloproliferative
neoplasms (MPN) JAK2 V617F |
147796 |
|
|
Myotonic Dystrophy |
160900 |
|
|
Niemann Pick type
C |
|
|
|
Noonan syndrome |
|
|
|
Paragangliomas,
familial; SDHB SDHC and SDHD |
168000,115310 |
YES |
|
Pituitary dwarfism III; PIT1 and PROP1 |
173110, 601538 |
YES |
|
Progressive familial intrahepatic cholestasis
(PFIC) |
|
|
|
Prader
Willi syndrome
Angelman syndrome |
176270
105830 |
|
|
Renal cell cancer,
papillary |
164860 |
YES |
|
Russell-Silver
syndrome |
180860 |
|
|
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 |
|
|
|
|
|
|