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Report On Proficiency Testing
J Lab Med Qual Assur 2018; 40(4): 199-210
Published online December 31, 2018
https://doi.org/10.15263/jlmqa.2018.40.4.199
Copyright © Korean Association of External Quality Assessment Service.
Report on the External Quality Assessment Scheme for Molecular Diagnostics in Korea (2017)
Man Jin Kim, Mi-Hye Yoon, Ji Yun Song, Sung Im Cho, Sung-Sup Park, Moon-Woo Seong
Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea
Correspondence to:Moon-Woo Seong Department of Laboratory Medicine, Seoul National University Hospital, 101 Daehak-ro, Jongno-gu, Seoul 03080, Korea Tel: +82-2-2072-4180 Fax: +82-2-747-0359 E-mail: MWSeong@snu.ac.kr
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Quality control for genetic analysis has become more important with a drastic increase in testing volume and clinical demands. The molecular diagnostics division of the Korean Association of Quality Assurance for Clinical Laboratory conducted two trials in 2017 on the basis of molecular diagnostics surveys, involving 53 laboratories. The molecular diagnostics surveys included 37 tests: gene rearrangement tests for leukemia (
Keywords: Laboratory proficiency testing, Molecular pathology, Molecular genetics
2017년도 분자진단검사 신빙도조사는 전체 회원기관에게 참가 신청조사를 하여 총 2회 시행하였고 회차별 37종목에 각 2종의 검체를 참여기관에 배포하여 다양한 돌연변이 및 유전질환을 포함하였다.
1. 분자진단검사
1차 신빙도조사는 2017년 4월 17일에 검체를 발송하고 2018년 1월 10일에 결과를 통보하였고, 2차 신빙도조사는 2017년 9월 19일에 검체를 발송하고 2018년 2월 10일에 결과를 통보하였다. 신빙도조사 물질의 회차별 검체와 검체번호, 검체구성은 Table 1과 같다.
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Table 1 . Survey tests and specimens for external quality assessment of the molecular diagnostics test survey in 2017.
Tests Specimens Test specimens of 1st trial Specimens Test specimens of 2nd trial Leukemia ( BCR-ABL1 )GH 17-01 Normal cell line GH 17-11 Leukemia cell line ( BCR/ABL1 positive)GH 17-02 Normal cell line GH 17-12 Normal cell line Leukemia ( PML-RARA )GH 17-01 Normal cell line GH 17-11 Normal cell line GH 17-02 Leukemia cell line ( PML/RARA positive)GH 17-12 Normal cell line Leukemia ( AML1-ETO )GH 17-01 Normal cell line GH 17-11 Normal cell line GH 17-02 Normal cell line GH 17-12 Normal cell line Leukemia ( TEL-AML1 )GH 17-01 Leukemia cell line ( TEL/AML1 positive)GH 17-11 Normal cell line GH 17-02 Normal cell line GH 17-12 Leukemia cell line (TEL/AML1 positive) JAK2 GH 17-03 Extracted DNA with JAK2 mutationGH 17-13 Normal DNA GH 17-04 Normal DNA GH 17-14 Extracted DNA with JAK2 mutationFLT3-ITD GH 17-05 Normal DNA GH 17-15 Normal DNA GH 17-06 Extracted DNA with FLT3 -ITD mutationGH 17-16 Extracted DNA with FLT3 -ITD mutationFLT3-TKD GH 17-07 Extracted DNA with FLT3 -TKD mutationGH 17-17 Extracted DNA with FLT3 -TKD mutationGH 17-08 Normal DNA GH 17-18 Normal DNA NPM1 GH 17-09 Extracted DNA with NPM1 mutationGH 17-19 Normal DNA GH 17-10 Normal DNA GH 17-20 Extracted DNA with NPM1 mutationKRAS GS 17-01 Extracted DNA with KRAS mutationGS 17-09 Normal DNA GS 17-02 Normal DNA GS 17-10 Extracted DNA with KRAS mutationEGFR GS 17-03 Extracted DNA with EGFR mutationGS 17-11 Extracted DNA with EGFR mutationGS 17-04 Normal DNA GS 17-12 Normal DNA BRAF GS 17-05 Normal DNA GS 17-13 Extracted DNA with BRAF mutationGS 17-06 Extracted DNA with BRAF mutationGS 17-14 Normal DNA KIT GS 17-07 Normal DNA GS 17-15 Normal DNA GS 17-08 Extracted DNA with KIT mutationGS 17-16 Extracted DNA with KIT mutationBRCA1 GG 17-01 Extracted DNA with BRCA1 mutationGG 17-41 Normal DNA GG 17-02 Normal DNA GG 17-42 Extracted DNA with BRCA1 mutationBRCA2 GG 17-03 Normal DNA GG 17-43 Extracted DNA with BRCA2 mutationGG 17-04 Extracted DNA with BRCA2 mutationGG 17-44 Normal DNA TP53 GG 17-05 Extracted DNA with TP53 mutationGG 17-45 Normal DNA GG 17-06 Normal DNA GG 17-46 Extracted DNA with TP53 mutationATP7B GG 17-07 Extracted DNA with ATP7B mutationGG 17-47 Extracted DNA with ATP7B mutationGG 17-08 Normal DNA GG 17-48 Normal DNA MELAS GG 17-09 Extracted DNA with MELAS mutationGG 17-49 Normal DNA GG 17-10 Normal DNA GG 17-50 Extracted DNA with MELAS mutationMERRF GG 17-11 Normal DNA GG 17-51 Extracted DNA with MERRF mutationGG 17-12 Extracted DNA with MERRF mutationGG 17-52 Normal DNA GJB2 GG 17-13 Extracted DNA with GJB2 variantGG 17-53 Extracted DNA with GJB2 variantGG 17-14 Normal DNA GG 17-54 Normal DNA LHON GG 17-15 Extracted DNA with LHON mutationGG 17-55 Extracted DNA with LHON mutationGG 17-16 Normal DNA GG 17-56 Normal DNA RET GG 17-17 Extracted DNA with RET mutationGG 17-57 Extracted DNA with RET mutationGG 17-18 Normal DNA GG 17-58 Normal DNA SCA1 GG 17-19 Normal DNA GG 17-59 Normal DNA GG 17-20 Extracted DNA with SCA1 mutationGG 17-60 Normal DNA SCA2 GG 17-19 Normal DNA GG 17-59 Normal DNA GG 17-20 Normal DNA GG 17-60 Normal DNA SCA3 GG 17-19 Normal DNA GG 17-59 Normal DNA GG 17-20 Normal DNA GG 17-60 Normal DNA SCA6 GG 17-19 Normal DNA GG 17-59 Extracted DNA with SCA6 mutation GG 17-20 Normal DNA GG 17-60 Normal DNA SCA7 GG 17-19 Normal DNA GG 17-59 Normal DNA GG 17-20 Normal DNA GG 17-60 Normal DNA APOE genotypeGG 17-21 Extracted DNA with APOE ε3/ε3 genotypeGG 17-61 Extracted DNA with APOE ε4/ε4 genotypeGG 17-22 Extracted DNA with APOE ε4/ε4 genotypeGG 17-62 Extracted DNA with APOE ε3/ε4 genotypeAchondroplasia GG 17-23 Normal DNA GG 17-63 Extracted DNA with FGFR3 mutationGG 17-24 Extracted DNA with FGFR3 mutationGG 17-64 Normal DNA MTHFR genotypeGG 17-25 Extracted DNA with MTHFR 677T/T homozygoteGG 17-65 Extracted DNA with MTHFR 677C/T heterozygousGG 17-26 Normal DNA GG 17-66 Extracted DNA with MTHFR 677T/T homozygotePWS/AS GG 17-27 Normal DNA GG 17-67 Extracted DNA with PWS mutation GG 17-28 Extracted DNA with AS mutation GG 17-68 Normal DNA DMD GG 17-29 Normal DNA GG 17-69 Extracted DNA with DMD mutationGG 17-30 Extracted DNA with DMD mutationGG 17-70 Normal DNA HD GG 17-31 Extracted DNA with HD mutation GG 17-71 Extracted DNA with HD mutation GG 17-32 Normal DNA GG 17-72 Normal DNA FMR1 GG 17-33 Normal DNA GG 17-73 Normal DNA GG 17-34 Extracted DNA with FMR1 mutationGG 17-74 Extracted DNA with FMR1 mutationTGFBI GG 17-35 Extracted DNA with TGFBI mutationGG 17-75 Normal DNA GG 17-36 Normal DNA GG 17-76 Extracted DNA with TGFBI mutationSBMA GG 17-37 Normal DNA GG 17-77 Normal DNA GG 17-38 Extracted DNA with AR mutationGG 17-78 Extracted DNA with AR mutationSMA GG 17-39 Extracted DNA with SMN1 mutationGG 17-79 Extracted DNA with SMN1 mutationGG 17-40 Normal DNA GG 17-80 Normal DNA ABO genotypeGO 17-01 Extracted DNA with cis-AB/B genotypeGO 17-03 Extracted DNA with B/O genotypeGO 17-02 Extracted DNA with A/O genotypeGO 17-04 Extracted DNA with cis-AB/A genotypeAbbreviations:
JAK2 , Janus kinase 2;FLT3 , FMS-like tyrosine kinase 3; ITD, internal tandem duplication; TKD, tyrosine kinase domain;NPM1 , nucleophosmin;EFGR , epidermal growth factor receptor;MELAS , mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes;MERRF , myoclonic epilepsy with ragged red fibres;LHON , Leber hereditary optic neuropathy;RET , multiple endocrine neoplasia 2; SCA, spinocerebellar ataxia;APOE , apolipoprotein E;MTHFR , methylenetetrahydrofolate reductase; PWS/AS, Prader-Willi/Angelman syndrome;DMD , Duchenne muscular dystrophy; HD, Huntington disease;FMR1 , fragile X mental retardation-1;TGFBI , transforming growth factor beta induced; SBMA, spinal and bulbar muscular atrophy; SMA, spinal muscular atrophy..
각 기관의 보고에 따라 검사방법, 검사결과 및 검사방법별 검사결과를 비교 분석하였으며 기관별 보고결과에 대하여 기본적인 평가(acceptable, unacceptable)를 실시하였다. 합격/불합격의 기준은 10기관 미만의 참여항목의 경우 주관기관의 검증결과와 일치하는 경우 acceptable이라고 판정하였으며 10기관 이상의 참여항목의 경우 주관기관의 검증결과와 참여기관 중 80% 이상의 일치가 있을 경우 acceptable이라고 판정하였다. 삼염기 반복 유전질환인 Huntington disease (HD), spinocerebellar ataxia (SCA1, SCA2, SCA3, SCA6, SCA7), spinal and bulbar muscular atrophy (SBMA), fragile X syndrome (FMR1) 검사의 정량값은 평가에 포함시키지 않았다.
1. 분자진단검사
2017년 1차 및 2차 신빙도조사에 참여한 기관은 53개 기관이었다. 분자진단검사는 혈액종양 8종목, 고형종양 4종목, 선천성 유전질환 8종목, 미토콘드리아 유전질환 3종, 삼염기 반복 유전질환 7종, 신경근육 유전질환 1종, 기타 유전질환 3종, 유전형검사 3종목 등 총 37종목에 대해 시행하였다.
혈액종양 분자진단검사 8종목인 leukemia and lymphomas (
각 기관별 사용하는 검사법은 Table 2와 같다.
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Table 2 . Mutation detection methods of the molecular diagnostics test survey in 2017.
Tests Mutation detection methods (lab-developed test) Response Mutation detection methods (commercial kit) Response Leukemia ( BCR-ABL1 )Allele-specific PCR 1 Hemavision 29 PCR (include multiplex), gel electrophoresis 1 PCR and gel electrophoresis 2 Real-time PCR 4 Leukemia ( PML-RARA )Allele-specific PCR 1 Hemavision 29 PCR (include multiplex), gel electrophoresis 1 PCR and gel electrophoresis 2 Real-time PCR 3 Leukemia ( AML1-ETO )Allele-specific PCR 1 Hemavision 29 PCR (include multiplex), gel electrophoresis 1 PCR and gel electrophoresis 2 Real-time PCR 2 Leukemia ( TEL-AML1 )Allele-specific PCR 1 Hemavision 29 PCR (include multiplex), gel electrophoresis 1 PCR and gel electrophoresis 2 JAK2 Allele-specific PCR 7 Pyrosequencing 1 Real-time PCR 10 Real-time PCR, hydrolysis probe 2 Sanger sequencing 10 Single base extension (SNaPshot) 1 FLT3 -ITDAllele-specific PCR 1 PCR and fluorescent based capillary electrophoresis (fragment length analysis) 3 PCR (include multiplex), gel electrophoresis 1 PCR and gel electrophoresis 1 RFLP 1 Sanger sequencing 12 FLT 3-TKDAllele-specific PCR 1 PCR and fluorescent based capillary electrophoresis (fragment length analysis) 1 PCR (include multiplex), gel electrophoresis 1 PCR and gel electrophoresis 10 Sanger sequencing 2 Other* 2 NPM1 Real-time PCR 1 RFLP 1 Sanger sequencing 16 KRAS Codon12-pyrosequencing 2 Codon13-pyrosequencing 2 Codon61-pyrosequencing 2 Codon12-Sanger sequencing 8 Codon13-Sanger sequencing 8 Codon61-Sanger sequencing 8 BRAF codon 600 (p.V600E)-pyrosequencing 2 codon 600 (p.V600E)-real-time PCR 6 codon 600 (p.V600E)-real-time PCR, hydrolysis probe 3 codon 600 (p.V600E)-Sanger sequencing 4 codon 600 (p.V600K)-pyrosequencing 2 codon 600 (p.V600K)-Sanger sequencing 4 codon 600 (p.V600K)-pyrosequencing 2 codon 600 (p.V600K)-Sanger sequencing 4 EGFR Codon719-pyrosequencing 1 Codon790-pyrosequencing 1 Codon858-pyrosequencing 1 Codon861-pyrosequencing 1 Exon 19 deletion-pyrosequencing 1 Codon719-Sanger sequencing 8 Codon790-Sanger sequencing 8 Codon858-Sanger sequencing 8 Codon861-Sanger sequencing 8 Exon 19 deletion-Sanger sequencing 8 KIT codon 816-real-time PCR, hydrolysis probe 1 codon 816-Sanger sequencing 8 codon 816-other 1 Exon 9-Sanger sequencing 6 Exon 9-other 1 Exon 11-Sanger sequencing 6 Exon 11-other 1 Exon 13-Sanger sequencing 6 Exon 13-other 1 Exon 17-Sanger sequencing 7 Exon 17-other 1 BRCA1 Sanger sequencing 16 BRCA2 Sanger sequencing 16 TP53 Sanger sequencing 6 ATP7B Sanger sequencing 8 Achondroplasia Sanger sequencing 9 GJB2 Sanger sequencing 10 TGFBI Real-time PCR 3 Sanger sequencing 10 RET Sanger sequencing 7 HD PCR and fluorescent based capillary electrophoresis (fragment length analysis) 5 SCA1 PCR and fluorescent based capillary electrophoresis (fragment length analysis) 6 SCA2 PCR and fluorescent based capillary electrophoresis (fragment length analysis) 7 SCA3 PCR and fluorescent based capillary electrophoresis (fragment length analysis) 6 SCA6 PCR and fluorescent based capillary electrophoresis (fragment length analysis) 6 SCA7 PCR and fluorescent based capillary electrophoresis (fragment length analysis) 6 SBMA PCR and fluorescent based capillary electrophoresis (fragment length analysis) 5 LHON Sanger sequencing 5 Single base extension (SNaPshot) 1 MELAS Sanger sequencing 6 MERRF Sanger sequencing 5 PWS/AS PCR and gel electrophoresis, methylation specific 5 DMD MLPA 6 SMA MLPA 4 RFLP 2 APOE genotypeAllele-specific PCR 5 PCR (include multiplex), gel electrophoresis 3 PCR and gel electrophoresis 1 Real-time PCR 17 Real-time PCR, hydrolysis probe 1 Real-time PCR, melting curve analysis 1 RFLP 1 Sanger sequencing 2 Line probe assay 1 MTHFR genotypeAllele-specific PCR 2 PCR and gel electrophoresis 1 Real-time PCR 1 Real-time PCR, hydrolysis probe 1 Real-time PCR, melting curve analysis 1 RFLP 4 Sanger sequencing 2 Single base extension (SNaPshot) 1 ABO genotypeAllele-specific PCR 1 RFLP 1 Sanger sequencing 9 Single base extension (SNaPshot) 2 FMR1 PCR and fluorescent based capillary electrophoresis (fragment length analysis) 6 Southern blot 1 Triplet repeat primed PCR and fluorescent based capillary electrophoresis 2 Abbreviations: PCR, polymerase chain reaction;
JAK2 , Janus kinase 2;FLT3 , FMS-like tyrosine kinase 3; ITD, internal tandem duplication; RFLP, restriction fragment length polymorphism; TKD, tyrosine kinase domain;NPM1 , nucleophosmin;EFGR , epidermal growth factor receptor;RET , multiple endocrine neoplasia 2; HD, Huntington 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 fibres; PWS/AS, Prader-Willi/Angelman syndrome;DMD , Duchenne muscular dystrophy; MLPA, multiple ligation probe amplification; SMA, spinal muscular atrophy;APOE , apolipoprotein E;MTHFR , methylenetetrahydrofolate reductase;FMR1 , fragile X mental retardation-1..*No response.
Leukemia and lymphomas 분자진단검사는 1차에서
HD, SCA1, SCA2, SCA3, SCA6, SCA7, SBMA 분자진단검사에서는 SCA1, SCA2, SCA3, SCA6, SCA7 분자진단검사에 참여한 모든 기관이 예상결과와 일치하는 결과를 보고하였다. HD, SBMA 분자진단검사에서는 2차에 참여한 기관 중 각각 2개 기관이 예상결과와 상이한 결과를 보고하였다.
MELAS, MERRF, LHON 분자진단검사에서는 MERRF, LHON 분자진단검사에 참여한 모든 기관에서 1차와 2차에서 예상결과와 일치하는 결과를 보고하였다. MELAS 분자진단검사에서는 1차에서 1개 기관이 예상결과와 상이한 결과를 보고하였으나 2차에서는 참여한 모든 기관에서 예상결과와 일치하는 결과를 보고하였다. PWS/AS, DMD, SMA 분자진단검사에서는 참여한 모든 기관이 1차와 2차에서 예상결과와 일치하는 결과를 보고하였다.
FMR1 분자진단검사에서는 1차에 참여한 1개 기관이 평가용 검체로 제공한 2종류의 검체 모두에서 예상결과와 다른 결과를 보고하였으나 2차에서는 참여한 모든 기관이 예상결과와 일치하는 결과를 보고하였다. 각 기관별 보고결과를 정리한 정오답 통계는 Table 3과 같다.
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Table 3 . Results of the molecular diagnostics test survey carried out in 2017.
Tests Specimens of 1st trial Intended responses Total no. of participants/acceptable response Specimens of 2nd trial Intended responses Total no. of participants/acceptable response Leukemia ( BCR-ABL1 )GH 17-01 Mutation not detected 36/36 GH 17-11 BCR/ABL1 positive 37/37 GH 17-02 Mutation not detected 36/36 GH 17-12 Mutation not detected 37/37 Leukemia ( PML-RARA GH 17-01 Mutation not detected 34/34 GH 17-11 Mutation not detected 36/36 GH 17-02 PML/RARA positive 34/34 GH 17-12 Mutation not detected 36/36 Leukemia ( AML1-ETO )GH 17-01 Mutation not detected 33/33 GH 17-11 Mutation not detected 35/35 GH 17-02 Mutation not detected 33/33 GH 17-12 Mutation not detected 35/35 Leukemia ( TEL-AML1 )GH 17-01 TEL/AML1 positive 31/30 GH 17-11 Mutation not detected 33/33 GH 17-02 Mutation not detected 31/31 GH 17-12 TEL/AML1 positive 33/31 JAK2 GH 17-03 p.Val617Phe mutation 30/30 GH 17-13 Mutation not detected 31/31 GH 17-04 Mutation not detected 30/30 GH 17-14 p.Val617Phe mutation 31/31 FLT3-ITD GH 17-05 Mutation not detected 19/19 GH 17-15 Mutation not detected 20/19 GH 17-06 FLT3-ITD mutation 19/19 GH 17-16 FLT3-ITD mutation 20/20 FLT3-TKD GH 17-07 FLT3- TKD mutation 17/16 GH 17-17 FLT3-TKD mutation 18/all ungraded GH 17-08 Mutation not detected 17/17 GH 17-18 Mutation not detected 18/18 NPM1 GH 17-09 NPM1 mutation 16/16 GH 17-19 Mutation not detected 18/18 GH 17-10 Mutation not detected 16/16 GH 17-20 NPM1 mutation 18/18 KRAS GS 17-01 Codon 12 mutation 10/10 GS 17-09 Mutation not detected 11/11 GS 17-02 Mutation not detected 10/10 GS 17-10 Codon 12 mutation 11/11 EGFR GS 17-03 Exon 19 deletion 9/9 GS 17-11 Exon 19 deletion 10/10 GS 17-04 Mutation not detected 9/9 GS 17-12 EGFR mutation 10/10 BRAF GS 17-05 Mutation not detected 15/15 GS 17-13 p.Val600Glu 14/14 GS 17-06 p.Val600Glu 15/15 GS 17-14 Mutation not detected 14/14 KIT GS 17-07 Mutation not detected 10/10 GS 17-15 Mutation not detected 10/10 GS 17-08 Codon 816 mutation 10/9 GS 17-16 Codon 816 Mutation 12/12 BRCA1 GG 17-01 c.5074+1G>T, heterozygote 16/16 GG 17-41 Mutation not detected 15/15 GG 17-02 Mutation not detected 16/16 GG 17-42 c.3442delG, p.Glu1148Argfs*7, heterozygote 15/14 BRCA2 GG 17-03 Mutation not detected 16/16 GG 17-43 Mutation not detected 15/15 GG 17-04 c.8140C>T, p.Gln2714*, heterozygote 16/16 GG 17-44 c.7480C>T, p.Arg2494*, heterozygote 15/15 TP53 GG 17-05 c.742C>T, p.Arg248Trp, heterozygote 6/6 GG 17-45 Mutation not detected 6/6 GG 17-06 Mutation not detected 6/6 GG 17-46 c.742C>T, p.Arg248Trp, heterozygote 6/6 ATP7B GG 17-07 c.3809A>G, p.Asn1270Ser, heterozygote c.3247C>T, p.Leu1083Phe, heterozygote 8/7 GG 17-47 c.3104G>T, p.Gly1035Val, heterozygotec.3247C>T, p.Leu1083Phe, heterozygote 8/8 GG 17-08 Mutation not detected 8/8 GG 17-48 Mutation not detected 8/8 MELAS GG 17-09 m.3243A>G 6/5 GG 17-49 Mutation not detected 6/6 GG 17-10 Mutation not detected 6/6 GG 17-50 m.3243A>G 6/6 MERRF GG 17-11 Mutation not detected 5/5 GG 17-51 m.8344A>G 5/5 GG 17-12 m.8344A>G 5/5 GG 17-52 Mutation not detected 5/5 GJB2 GG 17-13 c.35delG, p.Gly12Valfs*, heterozygote 10/9 GG 17-53 c.35delG, p.Gly12Valfs*, heterozygote 10/10 GG 17-14 Mutation not detected 10/10 GG 17-54 Mutation not detected 10/10 LHON GG 17-15 m.11778G>A 6/6 GG 17-55 Mutation not detected 6/6 GG 17-16 Mutation not detected 6/6 GG 17-56 m.11778G>A 6/6 RET GG 17-17 c.2753T>C, p.Met918Thr, heterozygote 7/7 GG 17-57 c.1859G>C, p.Cys620Ser, heterozygote 7/6 GG 17-18 Mutation not detected 7/7 GG 17-58 Mutation not detected 7/7 SCA1 GG 17-19 Mutation not detected 6/6 GG 17-59 Mutation not detected 6/6 GG 17-20 SCA1 mutation 6/6 GG 17-60 Mutation not detected 6/6 SCA2 GG 17-19 Mutation not detected 7/7 GG 17-59 Mutation not detected 7/7 GG 17-20 Mutation not detected 7/7 GG 17-60 Mutation not detected 7/7 SCA3 GG 17-19 Mutation not detected 6/6 GG 17-59 Mutation not detected 6/6 GG 17-20 Mutation not detected 6/6 GG 17-60 Mutation not detected 6/6 SCA6 GG 17-19 Mutation not detected 6/6 GG 17-59 SCA6 mutation 6/6 GG 17-20 Mutation not detected 6/6 GG 17-60 Mutation not detected 6/6 SCA7 GG 17-19 Mutation not detected 6/6 GG 17-59 Mutation not detected 6/6 GG 17-20 Mutation not detected 6/6 GG 17-60 Mutation not detected 6/6 APOE genotypeGG 17-21 APOE ε3/ε3 genotype 32/31 GG 17-61 APOE ε4/ε4 genotype 34/34 GG 17-22 APOE ε4/ε4 genotype 32/31 GG 17-62 APOE ε3/ε4 genotype 34/34 Achondroplasia GG 17-23 Mutation not detected 9/9 GG 17-63 p.Gly380Arg 9/9 GG 17-24 p.Gly380Arg 9/9 GG 17-64 Mutation not detected 9/9 MTHFR genotypeGG 17-25 MTHFR 677T/T homozygous genotype 13/13 GG 17-65 MTHFR 677C/T heterozygous genotype 14/14 GG 17-26 Mutation not detected 13/13 GG 17-66 MTHFR 677T/T homozygous genotype 14/14 PWS/AS GG 17-27 Mutation not detected 5/5 GG 17-67 Prader-Willi syndrome 5/5 GG 17-28 Angelman syndrome 5/5 GG 17-68 Mutation not detected 5/5 DMD GG 17-29 Mutation not detected 6/6 GG 17-69 Exon 56-57 deletion 6/6 GG 17-30 Exon 18-44 deletion 6/6 GG 17-70 Mutation not detected 6/6 HD GG 17-31 Full penetrance 5/5 GG 17-71 Full penetrance 5/5 GG 17-32 Mutation not detected 5/5 GG 17-72 Mutation not detected 5/3 FMR1 GG 17-33 Full mutation 10/9 GG 17-73 Mutation not detected 10/10 GG 17-34 Mutation not detected 10/9 GG 17-74 Full mutation 10/10 TGFBI GG 17-35 p.Arg124His 13/13 GG 17-75 Mutation not detected 13/13 GG 17-36 Mutation not detected 13/13 GG 17-76 p.Arg124His 13/13 SBMA GG 17-37 Mutation not detected 5/5 GG 17-77 Full penetrance 5/3 GG 17-38 Full penetrance 5/5 GG 17-78 Mutation not detected 5/5 SMA GG 17-39 SMN1, Exon7, homozygous deletion 6/6 GG 17-79 SMN1, Exon7, homozygous deletion 6/6 GG 17-40 Mutation not detected 6/6 GG 17-80 Mutation not detected 6/6 ABO genotypeGO 17-01 cis-AB/B genotype 13/11 GO 17-03 B/O genotype 13/13 GO 17-02 A/O genotype 13/12 GO 17-04 cis-AB/A genotype 13/13 Abbreviations:
FLT3 , FMS-like tyrosine kinase 3; ITD, internal tandem duplication; TKD, tyrosine kinase domain;NPM1 , nucleophosmin;EFGR , epidermal growth factor receptor; MELAS, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes; MERRF, myoclonic epilepsy with ragged red fibres; LHON, Leber hereditary optic neuropathy;RET , multiple endocrine neoplasia 2; SCA, spinocerebellar ataxia;APOE , apolipoprotein E;MTHFR , methylenetetrahydrofolate reductase; PWS/AS, Prader-Willi/Angelman syndrome; DMD, Duchenne muscular dystrophy; HD, Huntington’s disease;FMR1 , fragile X mental retardation-1;TGFBI , transforming growth factor beta induced; SBMA, spinal and bulbar muscular atrophy; SMA, spinal muscular atrophy..
2017년도 분자진단검사 신빙도조사는 전체적으로 매우 우수한 결과를 보였다[1-4].
검사범위가 한정된 KIT를 사용하는 기관에서는 검사부위 이외의 부위에서도 변이를 검출할 수 있는 대안을 마련하길 권장한다. 검체가 바뀌어 분석되었다고 예상되는 기관이 있어왔으므로 해당 기관에서는 매 회차마다 분석과정을 반드시 확인해야 한다.
HGVS에서는 오류를 방지하는 차원에서 triple-letter amino acid code 사용을 권장하고 있으므로 모든 참여기관들에서는 protein level에서의 변이에 대해 triple-letter amino acid code를 사용한 결과입력을 권장하며 특히 유전자변이 명명에서 잘못된 변이부위를 보고하거나 단백질변이 오기가 많이 발생하므로 최종보고 전 확인할 수 있는 체계를 구성하는 것을 권장한다.
동일 유전자를 검사하는 여러 기관에서 각기 다른 reference transcript를 사용하는 경우가 있으므로 검사 담당자는 주기적으로 reference transcript를 확인해야 한다. 변이에 따른 해석보고와 분석한 정량값으로 유전질환을 진단하는 경우 변이 해석과 정량값의 기준이 변하는 경우가 종종 있으므로 관련 문헌 및 참고자료를 주기적으로 확인해야 하며 HGVS 및 ACMG 관련 지침을 준수하는 것을 권장한다[5-7].
- Kim SH, Ki CS, Kim S, Kwon MJ, Kim JW, Park SS, et al. Annual report on external quality assessment in diagnostic genetics in Korea (2009). J Lab Med Qual Assur 2010;32:147-70.
- Kim SH, Ki CS, Jeon BR, Lee ST, Yoo EH, Kim JW, et al. Annual report on external quality assessment in diagnostic genetics in Korea (2008). J Lab Med Qual Assur 2009;31:161-81.
- Kim SH, Ki CS, Kim JH, Oh SH, Kim JW, Park SS, et al. Annual report on external quality assessment in diagnostic genetics in Korea (2007). J Lab Med Qual Assur 2008;30:167-87.
- Kim SH, Kim JW, Ki CS, Kim IS, Nam MH, Cho HJ, et al. Annual report on external quality assessment in diagnostic genetics in Korea (2005). J Lab Med Qual Assur 2006;28:153-67.
- Shaffer LG, McGowan-Jordan J, Schmid M. International Standing Committee on Human Cytogenetic Nomenclature. ISCN 2013: an international system for human cytogenetic nomenclature (2013). Basel: S. Karger, 2013.
- Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, et al. ACMG recommendations for standards for interpretation and reporting of sequence variations: revisions 2007. Genet Med 2008;10:294-300.
- Zhang VW, Wang J. Determination of the clinical significance of an unclassified variant. Methods Mol Biol 2012;837:337-48.
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