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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
Neuronopathy Distal Hereditary Motor, Type 7A (HMN7A) approved 158580
Neuronopathy Distal Hereditary Motor, Type 7B (HMN7B) approved 607641
Neuronopathy Distal Hereditary Motor, Type IX (HMN9) approved 617721
Neuronopathy, Distal Hereditary Motor, Type IIB (HMN2B) approved 608634
Neuronopathy, distal hereditary motor, type VIII (HMN8) approved 600175
Neuropathy, Congenital Hypomyelinating 1, Autosomal Recessive (CHN1) (also known as Charcot Marie-Tooth Disease, Type 4E (CMT4E)) approved 605253
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive (CHN1) approved 605253
Neuropathy, Congenital Hypomyelinating, 2, Autosomal Recessive (CHN2) approved 618184
Neuropathy, Congenital Hypomyelinating, 3, Autosomal Recessive (CHN3) approved 618186
Neuropathy, distal hereditary motor, type IIA (HMN2A) approved 158590
Neuropathy, Hereditary Motor and Sensory, Russe Type (HMSNR) (also known as Charcot-Marie-Tooth Disease, Type 4G (CMT4G)) approved 605285
Neuropathy, Hereditary Sensory and Autonomic, Type V; HSAN5 approved 608654
Neuropathy, Hereditary Sensory and Autonomic, Type VII; HSAN7 approved 615548
Neuropathy, Hereditary Sensory and Autonomic, Type VIII; HSAN8 approved 616488
Neuropathy, Hereditary, with Liability to Pressure Palsies; HNPP approved 162500
Niemann-Pick Disease Type A approved 257200
Niemann-Pick disease Type C1 and D approved 257220
Night Blindness, Congenital Stationary, Type 1A (CSNB1A) approved 310500
Night Blindness, Congenital Stationary, Type 2A (CSNB2A) approved 300071
non-Herlitz Junctional Epidermolysis Bullosa approved 226650