Laboratory Medicine and Quality Assurance

Table. 2.

Mutation detection methods used in the molecular diagnostics test survey in 2018–2021*

Tests Mutation detection methods Response

2018 1st 2018 2nd 2019 1st 2019 2nd 2020 1st 2020 2nd 2021 1st 2021 2nd
ABO genotype Allele-specific PCR 1 1 1 1 1 1 1 1
Sanger sequencing 9 9 11 11 13 13 15 15
Single base extension (SNaPshot) 2 2 1 2 2 2 2 2
BRCA1 Sanger sequencing 19 19 22 23 25 27 32 30
BRCA2 Sanger sequencing 19 19 24 23 25 27 32 30
TP53 Sanger sequencing 6 3 7 6 8 8 8 8
ATP7B Sanger sequencing 8 1 7 6 9 9 10 10
Single base extension (SNaPshot) 1
MT-TL1 Sanger sequencing 6 2 6 4 6 6 6 6
MT-TK Sanger sequencing 5 1 5 3 5 5 5 5
GJB2 Sanger sequencing 11 5 10 8 9 10 8 8
Real-time PCR, melting curve analysis 1 1 1 1
Real-time PCR 1 1
LHON Sanger sequencing 5 1 4 2 5 5 6 6
Single base extension (SNaPshot) 1 0 1 1 1 1 1
RET Sanger sequencing 8 2 7 5 7 7 8 8
SCA PCR and fluorescent based capillary electrophoresis (fragment length analysis) 7 7 7 4 6 7 7 7
APOE genotype Allele-specific PCR 5 5 6 4 3 4 4 4
Line probe assay (LIPA) 1
PCR and gel electrophoresis 1 1 1 1 2 2 1 1
PCR (include multiplex), gel electrophoresis 3 3 3 2 2 1 2 2
Real-time PCR 25 28 32 32 34 33 33 31
Real-time PCR, hydrolysis probe 1 1 1 2 3 3 3 3
Real-time PCR, melting curve analysis 1 1 1 1 1 4 5 6
RFLP (restriction fragment length polymorphism) 1 1
Sanger sequencing 2 2 2 2 2 2 2 1
Achondroplasia Sanger sequencing 8 8 8 6 8 8 8 8
MTHFR genotype Allele-specific PCR 1 1 1 1 1
PCR and gel electrophoresis 1 1 1 1 1 1
Real-time PCR 2 1 3 3 3 3
Real-time PCR, hydrolysis probe 2 2 3 3 2 2
Real-time PCR, melting curve analysis 1 1 1 1 1 1
RFLP (restriction fragment length polymorphism) 3 1 1 2 2 2
Sanger sequencing 4 1 3 3 3 3 3
Single base extension (SNaPshot) 1 1 1 1 1
PWS/AS PCR and gel electrophoresis, methylation specific 4 2 3 3 3
MLPA, methylation specific 1 1 3 3 4 4
MLPA 1 1
DMD MLPA 6 3 8 8 8 8
HD PCR and fluorescent based capillary electrophoresis (fragment length analysis) 5 1 5 6 6 6
FMR1 fragile X messenger ribonucleoprotein 1 7 4 5 6 8 8
Southern blot 1
Triplet repeat primed PCR and fluorescent based capillary electrophoresis 3 1 4 4 2 2
TGFBI Sanger sequencing 11 9 8 5 8 7 8 7
SBMA Real-time PCR 3 4 4 4 5 5 5 5
Real-time PCR, hydrolysis probe 1 3 3 4 1 3 2 3
PCR and fluorescent based capillary electrophoresis (fragment length analysis) 5 1 4 5 5 5
SMA MLPA 5 3 7 7 7 7
RFLP (restriction fragment length polymorphism) 2 0 2 1 1 1
MLPA, methylation specific 1 1

Abbreviations: PCR, polymerase chain reaction; RET, multiple endocrine neoplasia 2; HD, Huntington’s disease; SCA, spinocerebellar ataxia; SBMA, spinal and bulbar muscular atrophy; LHON, Leber hereditary optic neuropathy; MELAS, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes; MERRF, myoclonic epilepsy with ragged red fibers; PWS/AS, Prader-Willi and Angelman syndrome; DMD, Duchenne muscular dystrophy; MLPA, multiple ligation probe amplification; SMA, spinal muscular atrophy; APOE, apolipoprotein E; MTHFR, methylenetetrahydrofolate reductase; FMR1, fragile X messenger ribonucleoprotein 1

*Omit no responses

Lab Med Qual Assur 2022;44:61~75 https://doi.org/10.15263/jlmqa.2022.44.2.61
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