Skip to main content

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.

Download full approved condition list.

Condition name Status OMIM number Documents
Epidermolysis bullosa simplex, with muscular dystrophy (EBS-MD) approved 226670
Epidermolysis bullosa simplex, with pyloric atresia (EBSPA) approved 612138
Epidermolysis Bullosa, Junctional 2B, Severe (JEB2B) approved 619784
Epidermolysis Bullosa, Junctional, 3B, severe (JEB3B) approved 619786
Epidermolysis Bullosa, Junctional, 6, with pyloric atresia (JEB6) approved 619817
Epidermolysis Bullosa, Junctional, 7, with interstitial lung disease and nephrotic syndrome (JEB7) approved 614748
Epidermolysis bullosa, junctional, with pyloric stenosis or pyloric atresia approved 226730
Epidermolysis bullosa, lethal acantholytic approved 609638
Epidermolytic hyperkeratosis (EHK) approved 113800
Epiphyseal Dysplasia, Multiple, 1 (EDM1) approved 132400
Epiphyseal Dysplasia, Multiple, 2 (EDM2) approved 600204
Epiphyseal Dysplasia, Multiple, 3 (EDM3) approved 600969
Epiphyseal Dysplasia, Multiple, 4 (EDM4) approved 226900
Epiphyseal Dysplasia, Multiple, 6 (EDM6) approved 614135
Epiphyseal Dysplasia, Multiple, 7 (EDM7) approved 617719
Episodic Ataxia Type 2 (EA2) approved 108500
Episodic Kinesigenic Dyskinesia type1 (EKD1) approved 128200
Facioscapulohumeral Muscular Dystrophy (FSHD1) approved 158900
Facioscapulohumeral Muscular Dystrophy Type 2 (FSHD2) approved 158901
Factor XIII deficiency approved 613225