Table 1.

The diagnostic yield of next generation sequencing in suspected mitochondrial disease.

	Genes analysed	Publication	Size of cohort	Biochemical confirmation	Age group	mt-DNA analysis	Diagnostic rate	Proportion of mitochondrial diagnoses
Panel	<500	Calvo et al. [22]	60	+	P	Included*	22 (13)	100% (13)
		DaRe et al. [23]	148	+/-	P and A	Included*	9% (13)	46% (6)
		Legati et al. [24]	125	+/-	P and A	Included*	15% (19)	100% (19)
	>500	Calvo et al. [25]	42	+	P	Included*	31% (13)	100% (13)
		Vasta et al. [26]	26	+/-	P	Excluded prior	23% (6)	67% (4)
		Lieber et al. [27]	84	+/-	P and A	Included*	7% (6)	67% (4)
		Panel summary	485				14% (70)	84% (59)
WES	20,000	Haack et al. [30]	10	+	P	Included*	70% (7)	100% (7)
		Taylor et al. [31]	53	+	P	Excluded prior	54% (28)	100% (28)
		Ohtake et al. [32]	104	+	P	Excluded prior	43% (45)	60% (27)
		Wortmann et al. [33]	109	–	P	Excluded prior	39% (42)	50% (21)
		Legati et al. [24]	10	+	P and A	Included*	60% (6)	50% (3)
		Kohda et al. [34]	142	+	P	Included*	35% (49)	86% (42)
		Pronicka et al. [35]	113	–	P	Included*	59% (67)	70% (47)
		Puusepp et al. [36]	28	–	P	Included*	57% (16)	25% (4)
		Theunissen et al. [38]	63	–	P and A	Included*	62% (39)	82% (32)
		WES Summary	632				47% (299)	71% (211)

^⁎Some patient had already undergone mt-DNA screening and were either considered negative or inconclusive (containing variants of uncertain significance) A: adult, P: paediatric.