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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

Download full approved condition list.

Condition name Status OMIM number Documents
Pyogenic Arthritis, Pyoderma Gangrenosum and Acne Syndrome (PAPA) approved 604416
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 Tubular Dysgenesis (RTD) awaiting consideration 267430
Renal-Hepatic-Pancreatic Dysplasia 1; RHPD1 approved 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