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PGT-M conditions

The page below lists all PGT-M conditions currently authorised and awaiting consideration by the HFEA.

When publishing genetic conditions on the authorised list, we aim to be as consistent as possible with the OMIM database. However, many conditions may have several different names and we would recommend searching the list using the OMIM number for the condition as this is less likely to change throughout time.

If a condition does not appear on the list, it does not necessarily mean the condition has specifically not been authorised, it may mean that we have never before received an application from a UK centre to perform PGT-M for this condition and it has therefore never been considered by the HFEA.

Please note that we are always processing new applications to add genetic conditions to the list from UK centres licensed to perform PGT-M. This may mean that some authorised conditions may not be displayed. If you are unsure if a condition has been authorised or not, or would like any further information please contact the PGTM team at pgtm@hfea.gov.uk.

Click here for a downloadable list: approved condition list. Please note that the website page below is updated more regularly and is therefore more accurate than the downloadable list.

Condition name Status OMIM number Documents
Juvenile Polyposis Syndrome (JPS) approved 174900
Kabuki Syndrome 1 (KABUK1) approved 147920
Kabuki Syndrome 2 (KABUK2) approved 300867
Kearns Sayre Syndrome (KSS) approved 530000
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive; KIDAR, approved 242150
Keratosis Follicularis Spinulosa Decalvans, X-Linked (KFSDX) approved 308800
Kniest Dysplasia approved 156550
Knobloch Syndrome 1 (KNO1) approved 267750
Krabbe Disease (KRB) approved 245200
L–2-Hydroxyglutaric Aciduria (L2HGA) approved 236792
Lacrimo-auriculo-dento-digital syndrome (LADD) approved 149730
Langers Mesomelic Dysplasia (LMD) approved 249700
Larsen Syndrome (LRS) approved 150250
Laurin-Sandrow Syndrome (LSS) approved 135750
Leber Congenital Amaurosis 1 (LCA1) approved 204000
Leber Congenital Amaurosis 10 (LCA10) approved 611755
Leber Congenital Amaurosis 12 (LCA12) approved 610612
Leber Congenital Amaurosis 13 (LCA13) approved 612712
Leber Congenital Amaurosis 14 (LCA14) approved 613341
Leber Congenital Amaurosis 15 (LCA15) approved 613843