Targeted long-read sequencing facilitates effective carrier screening for complex monogenic diseases including spinal muscular atrophy, α-/β-thalassemia, 21-hydroxylase deficiency, and fragile-X syndrome

Table 2 At-risk couples identified for the 5 genes in the LRS panel

Disease	Gene	Inheritance pattern	Family	Variants	Gender	Panel	At-risk couples
SMA	SMN1	AR	CS01	Deletion; Deletion	M; F	LRS, NGS	3
α-Thalassemia	HBA1, HBA2	AR	CS02	--^THAI; HBA2:c.427T > C	M; F
α-Thalassemia	HBA1, HBA2	AR	CS03	--^SEA; --^SEA	M; F
21-OHD	CYP21A2	AR	CS04	c.293-13C/A > G; c.293-13C/A > G	M; F	LRS	4
FXS	FMR1	XL	CS05	CGG 23 / 59 repeats	F
			CS06	CGG 36 / 79 repeats	F
			CS07	CGG 29 / 140 / 168 repeats	F
Total							7

ISSN: 1479-5876