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
