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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 pgtm@hfea.gov.uk.

Condition name Status OMIM number Documents
Adult Syndrome approved 103285
Adult-onset vitelliform macular dystrophy approved 153700
Agammaglobulinaemia (x-linked) approved 300755
Agammaglobulinemia and isolated hormone deficiency approved 307200
Aicardi Goutieres syndrome Types 2, 3, 4, 5 and 6 approved 610181, 610329, 610333, 612952, 615010
Aicardi-Goutieres Syndrome 1 (AGS1) approved 225750
Alagille Syndrome approved 118450
Alexander Disease (ALX) approved 203450
Allan-Herndon-Dudley Syndrome approved 300523
Alpha Thalassaemia/mental retardation Syndrome* (ATRX) approved 301040
Alpha Thalassemia approved 141800
Alpha-1-antitrypsin deficiency approved +107400 (where two Z alleles are inherited)
Alpha-Mannosidosis approved 248500
Alport Syndrome approved 301050
Alport Syndrome approved 203780
Alport Syndrome (Autosomal Dominant) approved 104200
Alzheimer's Disease - early onset approved 104300
Alzheimer's Disease - early onset (Types 3 and 4) approved 607822, 606889
Amyotrophic Lateral Sclerosis (ALS) 6 approved 608030
Amyotrophic Lateral Sclerosis 1 (ALS1) approved 105400