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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
Hypophosphatasia (Infantile/perinatal lethal) approved 241500
Hypophosphatasia, Adult (HPPA) approved 146300
Hypophosphatasia, Childhood (HPPC) approved 241510
Hypophosphatemic Rickets (x-linked dominant) (XLHR) approved 307800
Hypospadias (severe) approved
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (IHPRF1) approved 615419
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 (IHPRF2) approved 616801
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (IHPRF3) approved 616900
Hypotonia, Parastremmatic Dwarfism approved 168400
Hypotrichosis - Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant; KIDAD approved 148210
Hypotrichosis-Lymphedema-Telangiectasia Syndrome; HLTS approved 607823
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome; HLTRS approved 137940
Ichthyosis (x-linked) (XLI) approved 308100
Ichthyosis 4B (Harlequin) (ARC14B) approved 242500
Ichthyosis follicularis-alopecia-photophobia Syndrome; IFAP Syndrome 1 With or Without Bresheck Syndrome; (IFAP1) approved 308205
Ichthyosis with confetti approved 609165
Ichthyosis, cyclic, with epidermolytic hyperkeratosis (ICEHK) approved 607602
Ichthyosis, Spastic Quadriplegia, and Impaired Intellectual Development (ISQMR) approved 614457
Ichythosis hystrix of Curth-Macklin approved 146590
Idiopathic Arterial Calcification of Infancy approved 208000