|
Disease |
OMIM |
UKGTN service* |
|
ADENOMATOUS
POLYPOSIS OF THE
COLON; APC |
175100 |
YES |
|
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO
21-HYDROXYLASE DEFICIENCY |
201910 |
YES |
|
AICARDI-GOUTIERES SYNDROME 1;
AGS1 |
225750
606609 |
YES |
|
AICARDI-GOUTIERES SYNDROME 2; AGS2 |
610181
610326 |
YES |
|
AICARDI-GOUTIERES SYNDROME 3; AGS3 |
610329
610330 |
YES |
|
AICARDI-GOUTIERES SYNDROME 4; AGS4 |
610333
606034 |
YES |
|
AICARDI-GOUTIERES SYNDROME 5; AGS5 |
610905
606609 |
YES |
|
ALSTROM SYNDROME;
ALMS |
203800
606844 |
YES |
|
BREAST CANCER; BRCA1 & BRCA2 |
114480
113705
600185 |
YES |
|
CENTRAL CORE DISEASE OF MUSCLE; CCD; RYR1 |
117000
180901 |
|
|
COCKAYNE SYNDROME, TYPE A, CSA, ERCC8; COCKAYNE
SYNDROME TYPE B, CSB, ERCC6 |
216400
609412
133540
609413 |
|
|
COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE;
MUTY HOMOLOG (E. COLI); MUTYH |
608456
604933 |
YES |
|
COLORECTAL
CANCER, HEREDITARY NONPOLYPOSIS; HNPCC; MLH1;
MSH2 |
114500
120436
120435 |
YES |
|
CYSTIC FIBROSIS; CF;
CRTR |
219700
602421 |
YES |
|
GAP JUNCTION PROTEINS,
BETA-2 AND BETA-6 ; GJB2 AND GJB6; DEAFNESS,
CONNEXIN 26 AND CONNEXIN 30-RELATED |
121011
604418 |
YES |
|
GENETIC IDENTITY |
- |
YES |
|
GONADAL DYSGENESIS, XY FEMALE TYPE; GDXY;
SRY GENE SEQUENCING |
306100
480000 |
|
|
HEMOPHILIA A; COAGULATION
FACTOR VIII |
306700 |
YES |
|
HUNTINGTON DISEASE;
HD |
143100 |
YES |
|
ICHTHYOSIS, X-LINKED;
STS DEFICIENCY |
308100 |
YES |
|
LI-FRAUMENI SYNDROME; LFS; TP53 |
151623
191170 |
YES |
|
MALIGNANT HYPERTHERMIA,
SUSCEPTIBILITY TO, 1; MHS1; RYR1 |
145600
180901 |
YES |
|
MECKEL SYNDROME TYPES 1 AND 3; MKS1
& MKS3 |
249000
609883
607361
609884 |
YES |
|
MELANOMA, CUTANEOUS MALIGNANT;
CMM; CDKN2A; TP16 |
155600
600160 |
YES |
|
MISMATCH REPAIR CANCER SYNDROME
(TURCOT SYNDROME), PMS2 ASSOCIATED |
276300
600259 |
Please contact
laboratory |
|
MULTIPLE ENDOCRINE NEOPLASIA, TYPE I ; MEN1 |
131100
118930 |
YES |
|
MULTIPLE ENDOCRINE
NEOPLASIA, TYPE II; MEN2A; TYPE IIB; MEN2B; RET |
171400
164761
162300 |
YES |
|
OCULOPHARYNGEAL MUSCULAR DYSTROPHY;
OPMD; PABPN1 |
164300
602279 |
YES |
|
OPTIC ATROPHY 1; OPA1; KJER-TYPE |
165500
605290 |
|
|
POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE;
ARPKD; PKHD1 |
263200
606702 |
YES |
|
SANDHOFF DISEASE; HEXB |
268800
606873 |
|
|
SEX DETERMINATION; AMELOGENIN; SRY |
300391
410000
480000 |
YES |
|
TORSION DYSTONIA 1, AUTOSOMAL DOMINANT; DYT1;
TOR1A |
128100
605204 |
YES |
|
VON HIPPEL-LINDAU SYNDROME; VHL |
193300
193300 |
YES |
|
Y CHROMOSOME MICRODELETIONS |
- |
YES |