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PGD Team

PGD Team

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List of conditions for which PGD has been carried out

Disorder

Disorder

MIM Number

Gene

Gene

MIM Number

Myotonic Dystrophy Type 1 (DM1) 160900 DMPK 1 605377
Neurofibromatosis type 1 (NF1) 162200 NF1 613113
Neurofibromatosis type 2 (NF2) 101000 NF2 607379
Crouzon Syndrome 123500 FGFR2 176943
Deafness Autosomal recessive 1A (DFNB1A) 220290 GJB2 121011
Retinoblastoma (RB1) 180200 RB1 614041
Breast-ovarian cancer familial susceptibility to, 1 (BROVCA1) 604370 BRCA1 112705
Breast-ovarian cancer familial susceptibility to, 2 (BROVCA2) 612555 BRCA2 600185
Multiple endocrine neoplasia type II B(MEN2B) 162300 RET 164761
Tuberous Sclerosis 2( TSC2) 613254 TSC2 191092
Lynch Syndrome 120435 MSH2 609309
Lynch Syndrome 120435 MLH1 120436
Hereditary Diffuse Gastric Cancer (HDGC) 137215 CDH1 192090
Familial adenomatous Polyposis 1 (FAP1) 175100 APC 611731
Paraganglioma 4 (PGL4) 1115310 SDHB 185470
Li-Fraumeni Syndrome 151623 TP53 191170
Carney Complex Type1 (CNC1) 160980 PRKARIA 188830
Sickle Cell Anemia 603903 HBB 141900
Beta Thalassemia 603902 HBB 141900
Treacher Collins Syndrome (TCS1) 154500 TCOF1 606847
Spinal Muscular Atrophy Type I (SMA1) 253300 SMN1 600354
Cystic fibrosis 219700 CFTR 602421
Marfan Syndrome (MFS) 154700 FBN1 134797
Von Hippel Lindau Syndrome (VHL) 193300 VHL 608537
Charcot Marie Tooth Disease Type 1A (CMT 1A) 118220 PMP22 601097
Fascioscapulohumeral muscular dystrophy 1A (FSHD 1A) 158900 D4Z4 606009
Leopard Syndrome 1 151100 PTPN11 176879
Mucopolysaccharidosis Type II (Hunter Syndrome) 309900 IDS 300823
HLA typing can also be carried out in conjunction with testing for single gene disorders

Page last modified on 31 jan 13 10:51