|
Services offered: 19/11/07
update by David Baty
|
Disease |
OMIM |
UKGTN service* |
|
Acral peeling skin syndrome |
609796 |
|
|
ADPKD |
173900 |
|
|
ARPKD |
263200 |
|
|
Azoospermia (Y
microdeletions) |
|
|
|
BCIE |
113800 |
|
|
Biotinidase
deficiency |
609019 |
|
|
Cerebral cavernous
malformations |
116860 |
YES |
|
CF |
219700 |
|
|
Common trisomies |
|
|
|
Crigler-Najjar
syndrome type I/II |
218800 |
YES |
|
Deafness,
recessive non-syndromic |
121011 |
|
|
EBS |
131760 |
YES |
|
EPPK |
144200 |
|
|
Gilbert syndrome |
143500 |
|
|
Hereditary
haemochromatosis |
235200 |
|
|
HNPCC |
114500 |
|
|
Hypokalaemic
periodic paralysis |
170400 |
YES |
|
IBS |
146800 |
|
|
Ichthyosis
vulgaris |
146700 |
|
|
Lamellar
ichthyosis |
242300 |
|
|
Lymphoma |
|
|
|
Marfan syndrome |
154700 |
|
|
MCAD |
201450 |
|
|
MEN1 |
131100 |
|
|
MEN2/FMTC |
171400 / 155240 /
162300 |
|
|
Mitochondrial
disorders |
535000/540000
545000 |
|
|
MYH polyposis |
604933 |
|
|
Myotonic dystrophy |
160900 |
|
|
NF1 |
162200 |
|
|
OPMD |
164300 |
|
|
Pelizaeus
Merzbacher disease |
312080/60884 |
YES |
|
Peutz Jegher
syndrome |
602216 |
|
|
Phaechromocytoma (SDHB/SDHD) |
171300 |
|
|
Proximal
symphalangism |
185800 |
|
|
Retinoblastoma |
182000 |
|
|
Torsion dystonia |
128100 |
|
|
Thrombophilia |
|
|
|
VHL |
193300 |
|
*Services offered outside
main commissioning area geographical
boundaries under the UK
specialist Genetic Testing Network - enquire
to the laboratory on
costs.
|