Disease

OMIM

UKGTN service*

(Approved, Pending, N/A)

 Alpha-1-Antitrypsin

613490 (107400)

  N/A

 Amnio-PCR / QF-PCR

 N/A

  N/A

 Angelman Syndrome

 105830

  N/A

 Ashkenazi Jewish Carrier Screen

(Familial Dysautomia, Canavan Disease, Tay-Sachs, Fanconi Anaemia Bloom Syndrome, Niemann Pick Disease, Mucolipidosis IV, Glycogen Storage Disease.)

 See individual disease entries

  N/A

Becker Muscular Dystrophy

 300376

  N/A

 Bloom Syndrome

 210900

  N/A

 Canavan Disease

 271900

  N/A

Chorionic Villus PCR- QF-PCR

N/A

  N/A

 Coeliac Disease

 212750

  N/A

 Cystic Fibrosis – 7 Ashkenazi mutations

 219700

  N/A

 Cystic Fibrosis – 32 mutations

 Cystic Fibrosis – Poly T

 219700,  277180

  N/A

 Di George syndrome - MLPA

 188400

  N/A

 DNA extraction and storage

 N/A

  N/A

 Duchenne Muscular Dystrophy

 310200

  N/A

 Factor II Prothrombin -

 176930

  N/A

 Factor V Leiden

 612309

  N/A

 Familial Dysautonomia

 223900

  N/A

 Familial Hypercholesterolaemia

(20 commom mutation in LDLR, APOB & PCSK9)

 143890, 107730,

607786

  N/A

 Fanconi Anaemia ( IVS4+4A>T common Ashkenazi mutation)

 227645

  N/A

 Gaucher Disease Type 1

 230800

  N/A

Glycogen Storage Disease Type 1a

232200

 N/A

 Haemochromatosis

 235200

  N/A

HLA typing – low resolution

 N/A

  N/A

HLA B27

 N/A

  N/A

HLA B51

 N/A

  N/A

Kenney-Caffey Syndrome

244460

  N/A

Microdeletion syndromes – MLPA

 See individual syndromes

  N/A

MTHFR – common C677T mutation

 607093

  N/A

Mucolipidosis type IV

252650

  N/A

Niemann Pick Disease type A (3 common Ashkenazi mutations)

 257200

  N/A

Paternity testing

 N/A

  N/A

Prader-Willi Syndrome

 176270

  N/A

QF-PCR – Trisomy analysis

 N/A

  N/A

Sanjad-Sakati Syndrome

241410

  N/A

Smith-Magenis Syndrome - MLPA

182290

  N/A

Spinal Muscular Atrophy (del / dup analysis of SMN1)

 600354

  N/A

Tay Sachs Disease

272800

  N/A

Telomere Screen – deletions / duplications by MLPA

 N/A

  N/A

Thrombophilia Risk Factors (Factor V Leiden, Prothrombin 20210 & MTHFR 677 SNPs)

227400, 176930,

607093

N/A

Uni-Parental Disomy – chromosomes 7, 11, 12, 14, 15 & 16

N/A

  N/A

Williams Syndrome - MLPA

 194050

  N/A

Y chromosome deletion

 N/A

  N/A