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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
Mitochondrial Complex I Deficiency, Nuclear type 37 (MC1DN37) approved 619272
Mitochondrial Complex I Deficiency, Nuclear Type 4 (MC1DN4) approved 618225
Mitochondrial Complex I Deficiency, Nuclear Type 5 (MC1DN5) approved 618226
Mitochondrial Complex I Deficiency, Nuclear Type 6 (MC1DN6) approved 618228
Mitochondrial Complex I Deficiency, Nuclear Type 7 (MC1DN7) approved 618229
Mitochondrial Complex I Deficiency, Nuclear Type 8 (MC1DN8) approved 618230
Mitochondrial Complex I Deficiency, Nuclear Type 9 (MC1DN9) approved 618232
Mitochondrial Complex II Deficiency approved 252011
Mitochondrial Complex III Deficiency approved 124000
Mitochondrial Complex IV Deficiency approved 220110
Mitochondrial Complex V (ATP synthase) Deficiency, Nuclear Type 2 (MC5DN2) approved 614052
Mitochondrial Complex V (ATP synthase) Deficiency, Nuclear Type 5 (MC5DN5) approved 618120
Mitochondrial Complex V Deficiency approved 604273
Mitochondrial DNA Depletion Syndrome 13 (MTDPS13) approved 615471
Mitochondrial DNA Depletion Syndrome 15 (MTDPS15) approved 617156
Mitochondrial DNA Depletion Syndrome 2 (myopathic type) (MTDPS2) approved 609560
Mitochondrial DNA Depletion Syndrome 3 (MTDPS3) approved 251880
Mitochondrial DNA depletion syndrome 4A (Alpers type) (MTDPS4A) approved 203700
Mitochondrial DNA Depletion Syndrome 5 (MTDPS5) approved 612073
Mitochondrial DNA Depletion Syndrome 6 (MTDPS6) approved 256810