PGT-M conditions
This table shows all PGT-M conditions currently approved and awaiting consideration by the HFEA.
Please note that we are updating this database, and some approved conditions may not be displayed. If you are unsure if a condition has been approved or not, please contact pgtm@hfea.gov.uk.
Download full approved condition list.
| Condition name | Status | OMIM number | Documents |
|---|---|---|---|
| Pyrodoxine-dependent seizures (EPD) | approved | 266100 | |
| Pyruvate dehydrogenase E1-alpha deficiency X-linked | approved | 312170 | |
| Pyruvate Dehydrogenase E1-beta Deficiency | approved | 614111 | |
| Pyruvate Dehydrogenase, Alpha-1 (PDHA1) | approved | 312170 | |
| Radioulnar synostosis with amegakaryocytic thrombocytopenia type 1 (RUSAT1) | approved | 605432 | |
| Radioulnar synostosis with amegakaryocytic thrombocytopenia type 2 (RUSAT2) | approved | 616738 | |
| Rapp-Hodgkin Syndrome (RHS) | approved | 129400 | |
| Recurrent Digynic Triploidy | approved | ||
| Recurrent hydatidiform mole (HYDM1) | approved | 231090 | |
| Recurrent infections with encephalopathy, hepatic dysfunction and cardiovascular malformations (FADD deficiency) | approved | 613759 | |
| Renal cell carcinoma, papillary, 1 (RCCP1) | approved | 605074 | |
| Renal Coloboma Syndrome | approved | 120330 | |
| Renal Cysts and Diabetes (RCAD) | approved | 137920 | |
| Renal-Hepatic-Pancreatic Dysplasia 1; RHPD1 | approved | 208540 | |
| Renal-Hepatic-Pancreatic Dysplasia 1; RHPD1 | awaiting approval | 208540 | |
| Renal-Hepatic-Pancreatic Dysplasia 2; RHPD2 | approved | 615415 | |
| Renpenning Syndrome 1; RENS1 | approved | 309500 | |
| Retinal macular dystrophy 2 | approved | 608051 | |
| Retinitis Pigmentosa (autosomal dominant) | approved | 180100 | |
| Retinitis Pigmentosa (RP3) (x-linked) | approved | 300029 | |