Table 4. Monogenic diseases diagnosed by PGT-M
Dominant Autosomal Diseases	Recessive Autosomal Diseases	X-Linked Diseases
Familial adenomatous polyposis	Sickle-cell anemia	Duchenne muscular dystrophy
Huntington's disease	Spinal muscular atrophy	Becker muscular dystrophy
Breast cancer (BRCA1/BRCA2) mutations	Joubert syndrome	Chronic granulomatous disease
Retinoblastoma	Osteogenesis imperfecta	Fragile X syndrome
Kell antigen system	Gaucher disease	X-linked adrenoleukodystrophy
Myotonic dystrophy	Fanconi syndrome
Peutz-Jeghers syndrome	Propionic acidemia
Dilated cardiomyopathy	Cystic fibrosis
Lynch syndrome	Homocystinuria
Crouzon syndrome	Usher syndrome
Polycystic kidney disease	Familial dysautonomia
Brugada syndrome	Methylmalonic acidemia
Multiple endocrine neoplasia	Alpha-1 antitrypsin deficiency
Hereditary multiple osteochondromas
Source: Sullivan-Pyke & Dokras, 2018.