Disease

OMIM

UKGTN service*

Alpha-1-antitrypsin deficiency

 107400

Angelman syndrome

 105830

 Yes

Autoimmune polyendocrinopathy type 1

 240300

 Yes

Becker muscular dystrophy

300376 

 Yes

Bone marrow transplant chimerism monitoring

Breast cancer: BRCA1 and BRCA2

Known family mutations only

 113705

600185

Coffin Lowry syndrome

 303600

 Yes

Connexin 32, X linked dominant Charcot Marie Tooth disease…

 302800

Congenital adrenal hypoplasia

 300200

Cornelia de Lange syndrome

 122470

Cystic fibrosis

 602421

 Yes

DRPLA

 125370

 Yes

Duchenne muscular dystrophy

 310200

 Yes

Dystonia, primary torsion

 128100

 Yes

Facioscapulohumeral muscular dystrophy

158900

Yes

Familial adenomatous polyposis

Known family mutations only

 175100

FLT3 analysis in AML

 136351

Fragile X syndrome

 300624

 Yes

Friedreich ataxia

 229300

 Yes

Haemochromatosis

 235200

 Yes

Haemolytic uremic syndrome

 235400/134370

120920/217030

 Yes

Haemophilia A

 306700

HMSN type1A

 118220

 Yes

HNPCC: MLH1 and MSH2

Known family mutations only

 120436/609309

HNPP

 162500

 Yes

Huntington's disease

 143100

 Yes

Identity testing

Limb girdle muscular dystrophy type 1B

Lamin A/C

 159001

 NCG

Limb girdle muscular dystrophy type 1C

Caveolin 3

607801

NCG

Limb girdle muscular dystrophy type 2A

Calpain 3

253600

NCG

Limb girdle muscular dystrophy type 2C

SGCG

253700

NCG

Limb girdle muscular dystrophy type 2D

SGCA

608099

NCG

Limb girdle muscular dystrophy type 2E

SGCB

604286

NCG

Limb girdle muscular dystrophy type 2F

SGCD

601287

NCG

Limb girdle muscular dystrophy type 2I

FKRP

607155

NCG

Microsatellite instability studies

MCADD deficiency

 607008

MYH associated polyposis (MAP)

 604933

 yes

Myotonic dystrophy type 1

 160900

 Yes

Myotonic dystrophy type 2

 602668

 Yes

Neuroferritinopathy

 606159

 Yes

Prader willi syndrome

 176270

 yes

Rett syndrome

 312750

Simpson-Golabi-Behmel syndrome

 312870

 Yes

Spinal muscular atrophy (types 1, 2 and 3)

 253330/253550

/253400

 Yes

Spinocerebellar ataxia types 1, 2, 3, 6, 7 and 17

 164400/183090/

109150/183086/

164500/607136

 Yes

Spinal and bulbar muscular atrophy

 313200

 yes

X-inactivation studies

Zygosity testing