The effectiveness of expanded carrier screening based on next-generation sequencing for severe monogenic genetic diseases

Table 3 Carrier frequencies of top 10 recessive diseases

Number	Disease	Gene*	Cases	Carrier frequency^a (%)
1	DFNB1A	GJB2	484	12.95
2	α-thalassemia	HBA1/HBA2	186	4.98
3	Wilson disease	ATB7B	108	2.89
4	DFNB4	SLC26A4	78	2.09
5	SMA	SMN1	77	2.06
6	β-thalassemia	HBB	68	1.82
7	PCD	SLC22A5	66	1.77
8	Phenylketonuria	PAH	64	1.71
9	Krabbe disease	GALC	37	0.99
10	MMA	MMUT	36	0.96
Total			1204	32.22

^*DFNB1A, Autosomal Recessive Deafness 1A; DFNB4, Autosomal Recessive Deafness 4; SMA, Spinal Muscular Atrophy; PCD, Primary Carnitine Deficiency; and MMA, MUT-Related Methylmalonic Acidaemia
^aPercentage of 3737 individuals screened

ISSN: 1479-7364