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 |
|---|---|---|---|
| Senior-Loken Syndrome type 8 (SLSN8) | approved | 616307 | |
| Senior-Loken Syndrome type 9 (SLSN9) | approved | 616629 | |
| Severe / Profound Global Developmental Delay and Epilepsy (GRM7 gene) | approved | 604101 | |
| Severe Combined Immune Deficiency (x-linked) (SCIDX1) | approved | 300400 | |
| Severe Combined Immunodeficiency – autosomal recessive | approved | 600802 | |
| Severe Combined Immunodeficiency (SCID) | approved | 601457 | |
| Severe Combined Immunodeficiency (SCID) (Adenosine Deaminase (ADA) deficient) | approved | 102700 | |
| Short-Rib Thoracic Dysplasia, types 2 - 11, 13 and 14 | approved | 611263, 613091, 613819, 614376, 263520, 614091, 615503, 266920, 615630, 615633, 616300, and 616546 | |
| Shwachman-Diamond syndrome (SDS) | approved | 260400 | |
| Sialic Acid Storage Disorder (ISSD) | approved | 269920 | |
| Sickle Cell Anaemia* | approved | 603903 | |
| Simpson Golabi Behmel Syndrome Type 1 | approved | 312870 (to detect affected males) | |
| Simpson-Golabi-Behmel Syndrome Type 2 | approved | 300209 | |
| Simpson-Golabi-Behmel Syndrome, Type 1; SGBS1 | awaiting approval | 312870 | |
| Simpson-Golabi-Behmel Syndrome, Type 1; SGBS1 | approved | 312870 | |
| Sjogren Larsson Syndrome (SLS) | approved | 270200 | |
| Small-fibre neuropathy (SFN) | approved | 133020 | |
| Smith Lemli Opitz Syndrome (SLOS) | approved | 270400 | |
| SOPH Syndrome (Short Stature, Optic Nerve Atrophy, Pelger-Huet anomaly) | approved | 614800 | |
| Sorsby Fundus Dystrophy; SFD | awaiting approval | 136900 | |
