Regional Genetics Service

Address

GSTS Pathology

DNA Laboratory

5th Floor Tower Wing,

Guy’s Hospital

London SE1 9RT

Contact 1

 Dr David Ellis

Contact 2

 Mrs Elaine White (Administrator)

Contact 3

 Dr Pam Renwick (for PGD  enquiries)

Telephone 1

 020 718 82582

Telephone 2

 020 718 82582

Telephone 3

 020 718 81667

Fax:

 020 718 87273

Email 1

 David.ellis@gsts.com

Email 2

 Elaine.white@gsts.com

Email 3

 Pamela.renwick@gstt.nhs.uk

Home page

 www.gsts.com

 

 

Services offered: 25/10/2010 update

Disease

OMIM

UKGTN service*

(Approved, Pending, N/A)

Alport syndrome

(X linked; COL4A5)

301050

YES

Alport syndrome (recessive; COL4A3, COL4A4)

203780

YES

Alzheimer disease: familial, type 3 (PSEN1)

 104311

YES

Amyotrophic Lateral Sclerosis type 1 (SOD1)

105400

YES

Breast / ovarian cancer, familial (BRCA1; BRCA2)

113705

600185

YES

Brown-Vialetto-Van Laere syndrome (C20ORF54)

211530

Pending

Central Core Disease (RYR1)

117000

Pending

Centronuclear myopathy, autosomal recessive (Bin1)

255200

Pending

Centronuclear myopathy, autosomal dominant (DNM2)

160150

Pending

Centronuclear myopathy, XL recessive (MTM1)

310400

Pending

Congenital muscular dystrophy, type 1A (LAMA2; merosin deficient)

156225

YES

Congenital muscular dystrophy, type 1C (FKRP)

606612

YES

Congenital muscular dystrophy (Large-related) type 1D (Large)

608840

YES

Cystic Fibrosis

219700

YES

Duchenne / Becker Muscular Dystrophy

310200 300276

YES

Familial dysautonomia (Riley Day syndrome)

223900

YES

Fanconi Anaemia (FACA, FACC)

227650;  227645

YES

Fragile X disease (FRAXA;  FRAXE)

309550

 

Fukuyama congenital muscular dystrophy (fukutin)

253800

YES

Huntington Disease

143100

YES

Infantile spasm syndrome, X Linked

(ARX)

300419

YES

Medium Chain CoA Dehydrogenase Deficiency (ACADM)

201450

YES

Muscle Eye Brain disorder (POMGNT1)

253280

YES

Nemaline Myopathy 1

(TPM3)

609284

Pending

Nemaline myopathy 3

(ACTA1)

161800

Pending

Nemaline myopathy 4

(TPM2)

609285

Pending

Nemaline myopathy 7

(CFL2)

610687

Pending

Niemann Pick disease C1 & C2 (NPC1, NPC2)

257220

607625

Pending

Osler-Redndu-Weber disease  (hereditary hemorrhagic telangiectasia type 1) (ENG)

187300

YES

Primary Pulmonary Hypertension (BMPR2)

178600

YES

Primary Pulmonary Hypertension, HHT-related (ACVRL1)

600376

YES

Rigid spine syndrome (SEPN1)

602771

 YES

Spastic paraplegia 3a

(ATL1)

182600

YES

Spastic paraplegia 4

(SPAST)

182601

YES

Spastic paraplegia 6

(NIPA1)

600363

YES

Spastic paraplegia 31

(REEP1)

610250

YES

Spinal Muscular Atrophy (SMN1)

253300

YES

Spinal Muscular Atrophy X linked (UBE1)

301830

Pending

Spinal Muscular atrophy with respiratory distress (IGHMBP2)

604320

YES

Tay Sachs disease

(HEXA)

606869

Pending

Ullrich syndrome (COL6A1,2,3)

254090

YES

VACTERL with Hydrocephalus syndrome, X linked (FANCB)

314390

YES

Walker-Warburg syndrome (POMT1, POMT2)

236670

YES

*Services offered outside main commissioning area geographical

boundaries under the UK specialist Genetic Testing Network - enquire to the laboratory on costs.