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Table 1 Molecular diagnostic methods used in patients with mtDNA pathogenic variants (total 72)

From: Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape

Methods

Number of cases (%)

Targeted mutation analysis

14 (19.4)

Hotspot mutation analysis

28 (38.9)

Long-range PCR for mtDNA deletion

8 (11.1)

Whole mtDNA genome sequencing by NGS

6 (8.3)

Not specified or inadequate documentation

16 (22.2)

  1. mtDNA mitochondrial DNA, NGS next generation sequencing, PCR polymerase chain reaction