Disease

OMIM

UKGTN service*

Achondroplasia

100800

YES

Antley-Bixler; POR

207410

NSCAG

Adenomatous polyposis coli; APC

175100

Breast/Ovarian cancer; BRCA1, BRCA2

113705, 600185

Charcot-Marie-Tooth disease type 1A/ HNPP/ X-linked CMT; GJB1

118220, 304040, 162500

Cleidocranial dysplasia; RUNX2

119600, 600211

NSCAG

Congenital Myasthenic Syndromes; CHRNA, CHRNB, CHRND, CHRNE, RAPSYN, CHAT, COLQ

100690, 100710, 100720, 100725, 118490, 603033, 118490, 603034, 608931, 608930, 601462, 601592

NSCAG

Craniofacial disorders including Apert, Beare-Stevenson, Crouzon, Jackson-Weiss, Muenke, Pfeiffer & Saethre-Chotzen syndromes

123500, 101400, 101200, 101600, 602849, 123790, 123150

NSCAG

Craniofrontonasal syndrome; EFNB1

304110

NSCAG

Cystic Fibrosis

219700, 602421, 277180

Duchenne / Becker muscular dystrophy

310200, 300376

Endocrine conditions due to calcium-sensing receptor; CASR (hypercalcaemia & hypocalcaemia)

239200, 146200, 145980, 601198, 601199

YES

Fragile X disease; FMR1

 309550

Huntington disease

143100

Familial Hypertrophic Cardiomyopathy; MYH7, MYBPC3, TNNT2

160760, 191045, 600958

Hyperparathyroidism Jaw Tumour syndrome; HRPT2

607393, 145001

YES

Hypochondroplasia

146000

YES

Hypoparathyroidism; AIRE, GATA3, GCM2, PTH

607358, 146255, 131320, 603716, 168450

YES

Hereditary nonpolyposis colon cancer (HNPCC)

120435, 120436, 609309

YES

Identity testing

Juvenile polyposis syndrome; SMAD4, BMPR1A

174900

YES

Long QT syndrome; KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2

192500, 607542, 152427, 603830, 601144, 600163, 176261, 603796, 220400

YES

Mitochondrial diseases (mtDNA, POLG, Twinkle, mtDNA depletion)

530000, 165500, 557000, 540000, 545000, 551500, 535000, 256000, 157640, 174763, 606075, 251900, 203700, 251880, 609560

YES

MEN1 & FIHP

131100, 145000

YES

MEN2 & FMTC

162300, 171400, 155240

YES

MYH polyposis (limited screen)

604933

YES

Myotonic Dystrophy

160900

Pallister-Hall, Grieg Cephalopolysyndactyly syndrome, Preaxial polydactyly type IV, Preaxial polydactyly type A1; GLI3

146510, 175700, 174700, 174200

YES

Parital foramina & Boston-type craniosynostosis; MSX2

168500, 604757, 123101

NSCAG

Prader-Willi & Angelman syndromes, including UBE3A

176270, 105830, 601623

YES

Robinow syndrome & Brachydactyly type B1; ROR2

268310, 113000

YES

Russell Silver syndrome

180860

YES

Spinal and bulbar muscular atrophy

313200

YES

Spinal muscular atrophy; SMN1

253300, 253550, 253400, 600354

Synpolydactyly type II, Brachydactyly type D & type E; HOXD13

186000, 113200, 113300, 142989

Treacher Collins-Franceschetti syndrome; TCOF1

154500

YES

Von Hippel Lindau syndrome; VHL

193300

YES

X-linked periventricular nodular heterotopia, Otopalatodigital syndromes types 1 & 2, Melnick-Needles syndrome, Frontometaphyseal dysplasia; FLNA

300049, 304120, 311300, 309350, 305620

YES

UPD14 & 16

608149, -

YES