PGD conditions
This table shows all PGD 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 pgd@hfea.gov.uk.
| Condition name | Status | OMIM number | Documents |
|---|---|---|---|
| Scapuloperoneal spinal muscular atrophy (SPSMA) | approved | 181405 | |
| Schwannomatosis type 1 | approved | 162091 | |
| Schwannomatosis type 2 | approved | 615670 | |
| Seizures, Cortical Blindness, Microcephaly Syndrome (SCBMS) | approved | 616632 | |
| Sengers Syndrome | approved | 212350 | |
| Senior Loken Syndrome 6 | approved | 610189 | |
| Senior-Loken Syndrome (SLSN) types 1, 3, 4, 5, 7, 8 and 9 | awaiting approval | 266900, 606995, 606996, 609254, 613615, 616307 and 616629 respectively | |
| 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 | |
| Sjogren Larsson Syndrome (SLS) | approved | 270200 | |
| Small-fibre neuropathy (SFN) | approved | 133020 | |