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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

Condition name Status OMIM number Documents
Joubert syndrome type 8 approved 612291
Joubert syndrome type 9 approved 612285
Junctional Epidermolysis Bullosa (Herlitz type) approved 226700
Juvenile Polyposis Syndrome (JPS) approved 174900
Kabuki Syndrome Type 1 approved 147920
Kabuki Syndrome Type 2 approved 300867
Kearns Sayre Syndrome (KSS)/ Pearsons Marrow-Pancreas Syndrome (PMPS) approved 530000, 557000
Krabbe Disease approved 245200
L–2-Hydroxyglutaric aciduria approved 236792
Lacrimo-auriculo-dento-digital syndrome (LADD) approved 149730
Langers Mesomelic Dysplasia (LMD) approved 249700
Larsen Syndrome approved 150250
Laryngo-onycho-cutaneous (LOC) Syndrome approved 245660
Leber congenital amaurosis (LCA) approved 204000, 204100
Leber congenital amaurosis type 10 approved 611755
Leber congenital amaurosis type 12 approved 610612
Leber congenital amaurosis type 13 approved 612712
Leber congenital amaurosis type 14 approved 613341
Leber congenital amaurosis type 15 approved 613843
Leber congenital amaurosis type 16 approved 614186