Laboratory Medicine and Quality Assurance

Table. 1.

Results of the molecular diagnostics test survey carried out in 2018–2021

Tests S* Intended responses T/A
2018 1st trials
ABO genotype 18-01 cis-AB/O genotype 12/12
18-02 A/O genotype 12/12
BRCA1 18-01 c.3627dup, p.Glu1210Argfs*9, heterozygote 19/19
18-02 No variant 19/18
BRCA2 18-03 No variant 19/18
18-04 c.1399A>T, p.Lys467*, heterozygote 19/18
TP53 18-05 c.742C>T, p.Arg248Trp, heterozygote 6/6
18-06 No variant 6/6
ATP7B 18-07 Probably not Wilson disease 8/8
18-08 c.2310C>G, p.Leu770=, heterozygote(;)c.2333G>T, p.Arg778Leu, heterozygote 8/8
MT-TL1 18-09 m.3243A>G 6/6
18-10 No variant 6/6
MT-TK 18-11 No variant 5/5
18-12 m.8344A>G 5/5
GJB2 18-13 No variant 11/11
18-14 c.35del, p.Gly12Valfs*2, heterozygote 11/10
LHON 18-15 m.14484T>C 6/5
18-16 No variant 6/6
RET 18-17 No variant 8/8
18-18 c.2410G>A, p.Val804Met, heterozygote 8/8
SCA 18-19 Normal (no risk of SCA) 7/7
18-20 Positive, SCA causing allele with full penetrance 7/6
APOE genotype 18-21 APOE ε3/ε3 genotype 40/40
18-22 APOE ε4/ε4 genotype 40/40
Achondroplasia 18-23 FGFR3, G380R mutation, negative 8/8
18-24 FGFR3, G380R mutation, positive 8/8
MTHFR genotype 18-25 MTHFR 677T/T homozygous genotype 15/15
18-26 Homozygous normal (wild type/wild type) 15/15
PWS/AS 18-27 Normal methylation pattern 5/5
18-28 Angelman syndrome 5/5
DMD 18-29 No deletion/duplication 6/6
18-30 Exon 45-53 deletion 6/6
HD 18-31 No risk of HD 5/5
18-32 Full penetrance 5/5
FMR1 18-33 Full mutation 11/10
18-34 No expansion 11/11
TGFBI 18-35 TGFBI, R124H mutation, positive 15/15
18-36 TGFBI, R124H mutation, negative 15/15
SBMA 18-37 No risk of SBMA 5/5
18-38 Full penetrance 5/5
SMA 18-39 Reduced probability of SMA 7/7
18-40 SMN1, Exon7, homozygous deletion 7/7
2018 2nd trials
ABO genotype 18-03 B/O genotype 12/12
18-04 cis-AB/O genotype 12/12
BRCA1 18-41 No variant 19/17
18-42 c.3756_3759del, p.Ser1253Argfs*10, heterozygote 19/18
BRCA2 18-43 c.5576_5579del, p.Ile1859Lysfs*3, heterozygote 19/19
18-44 No variant 19/19
TP53 18-45 No variant 6/6
18-46 c.742C>T, P.Arg248Trp, heterozygote 6/5
ATP7B 18-47 c.2310C>G, p.Leu770=, heterozygote(;)c.2333G>T, p.Arg778Leu, heterozygote(;)c.3247C>T, p.Leu1083Phe, heterozygote 8/8
18-48 Probably not Wilson disease 8/8
MT-TL1 18-49 No variant 6/6
18-50 m.3243A>G 6/6
MT-TK 18-51 m.8344A>G 5/5
18-52 No variant 5/5
GJB2 18-53 c.35del, p.Gly12Valfs*2, heterozygote 11/10
18-54 No variant 11/11
LHON 18-55 No variant 6/6
18-56 m.4171C>A 6/4
RET 18-57 c.2410G>A, p.Val804Met, heterozygote 7/7
18-58 No variant 7/7
SCA 18-59 Positive, SCA causing allele with full penetrance 7/7
18-60 Normal (no risk of SCA) 7/7
APOE genotype 18-61 APOE ε4/ε4 genotype 42/42
18-62 APOE ε3/ε4 genotype 42/42
Achondroplasia 18-63 FGFR3, G380R mutation, positive 8/8
18-64 FGFR3, G380R mutation, negative 8/8
MTHFR genotype 18-65 MTHFR 677C/T heterozygous genotype 15/15
18-66 MTHFR 677T/T homozygous genotype 15/15
PWS/AS 18-67 Prader-Willi syndrome 5/5
18-68 Normal methylation pattern 5/5
DMD 18-69 Exon 2-44 deletion 6/5
18-70 No deletion/duplication 6/5
HD 18-71 Full penetrance 5/5
18-72 No risk of HD 5/5
FMR1 18-73 No expansion 11/11
18-74 Full mutation 11/10
TGFBI 18-75 TGFBI, R124H mutation, negative 16/16
18-76 TGFBI, R124H mutation, positive 16/16
SBMA 18-77 Full penetrance 5/5
18-78 No risk of SBMA 5/5
SMA 18-79 SMN1, Exon7, homozygous deletion 7/7
18-80 Reduced probability of SMA 7/7
2019 1st trials
ABO genotype 19-01 A/O genotype 13/12
19-02 A/O genotype 13/13
BRCA1 19-01 c.2157dup, p.Glu720Argfs*6, heterozygote 24/19
19-02 No variant 24/18
BRCA2 19-03 c.755_758del, p.Asp252Valfs*24, heterozygote 24/24
19-04 No variant 24/24
TP53 19-05 c.722C>T, p.Ser241Phe, heterozygote 7/7
19-06 No variant 7/7
ATP7B 19-07 c.3191A>C, p.Glu1064Ala, heterozygote(;)c.3207C>A, p.His1069Gln, heterozygote 8/8
19-08 Probably not Wilson disease 8/8
MT-TL1 19-09 No variant 6/5
19-10 No variant 6/6
MT-TK 19-11 m.8344A>G 5/5
19-12 No variant 5/5
GJB2 19-13 Ungraded 11
19-14 No variant 10/10
LHON 19-15 m.11778G>A 5/5
19-16 No variant 5/5
RET 19-17 c.2753T>C, p.Met918Thr, heterozygote 7/7
19-18 No variant 7/7
SCA 19-19 Positive, SCA causing allele with full penetrance 7/3
19-20 Normal (no risk of SCA) 7/7
APOE genotype 19-21 APOE ε3/ε3 genotype 46/46
19-22 APOE ε3/ε3 genotype 46/46
Achondroplasia 19-23 FGFR3, G380R mutation, positive 8/8
19-24 FGFR3, G380R mutation, negative 8/8
MTHFR genotype 19-25 MTHFR 677C/T heterozygous genotype 16/16
19-26 MTHFR 677C/T heterozygous genotype 16/16
PWS/AS 19-27 Prader-Willi syndrome 6/6
19-28 Normal methylation pattern 6/6
DMD 19-29 Exon 45 deletion 6/6
19-30 No deletion/duplication 6/6
HD 19-31 Full penetrance 6/6
19-32 No risk of HD 6/4
FMR1 19-33 Full mutation 10/10
19-34 No expansion 10/8
TGFBI 19-35 TGFBI, R124H mutation, negative 15/15
19-36 TGFBI, R124H mutation, negative 15/15
SBMA 19-37 Full penetrance 5/5
19-38 No risk of SBMA 5/5
SMA 19-39 SMN1, Exon7, homozygous deletion 8/8
19-40 SMN1, Exon7, heterozygous deletion 8/5
2019 2nd trials
ABO genotype 19-03 A/O genotype 14/14
19-04 A/O genotype 14/14
BRCA1 19-41 c.798_799del, p.Ser267Lysfs*19, heterozygote 23/23
19-42 No variant 23/23
BRCA2 19-43 c.6198_6199del, p.Ser2067Hisfs*10, heterozygote 23/23
19-44 No variant 23/23
TP53 19-45 c.743G>A, p.Arg248Gln, heterozygote 6/6
19-46 No variant 6/6
ATP7B 19-47 c.3191A>C, p.Glu1064Ala, heterozygote(;)c.3207C>A, p.His1069Gln, heterozygote 7/6
19-48 Probably not Wilson disease 7/7
MT-TL1 19-49 No variant 4/4
19-50 No variant 4/4
MT-TK 19-51 No variant 3/3
19-52 No variant 3/3
GJB2 19-53 c.35del, p.Gly12Valfs*2, heterozygote 9/8
19-54 No variant 9/9
LHON 19-55 m.11778G>A 3/3
19-56 m.3460G>A 3/3
RET 19-57 c.1859G>T, p.Cys620Phe, heterozygote 5/5
19-58 No variant 5/5
SCA 19-59 Normal (no risk of SCA) 4/4
19-60 Positive, SCA causing allele with full penetrance 4/4
APOE genotype 19-61 APOE ε3/ε4 genotype 44/44
19-62 APOE ε3/ε4 genotype 44/44
Achondroplasia 19-63 FGFR3, G380R mutation, positive 6/6
19-64 FGFR3, G380R mutation, negative 6/6
MTHFR genotype 19-65 MTHFR 677C/T heterozygous genotype 15/15
19-66 Homozygous normal (wild type/wild type) 15/15
PWS/AS 19-67 Angelman syndrome 4/4
19-68 Normal methylation pattern 4/4
DMD 19-69 Exon 45 deletion 4/4
19-70 No deletion/duplication 3/3
HD 19-71 Full penetrance 4/4
19-72 Full penetrance 4/4
FMR1 19-73 Full mutation 8/8
19-74 No expansion 8/8
TGFBI 19-75 TGFBI, R124H mutation, negative 13/13
19-76 TGFBI, R124H mutation, negative 13/13
SBMA 19-77 Full penetrance 3/3
19-78 No risk of SBMA 3/3
SMA 19-79 SMN1, Exon7, homozygous deletion 6/6
19-80 Reduced probability of SMA 6/6
2020 1st trials
ABO genotype 20-01 A/O genotype 16/16
20-02 O/O genotype 16/16
BRCA1 20-01 c.2071del, p.Arg691Aspfs*10, heterozygote(;)c.2082C>T, p.Ser694=, heterozygote 25/25
20-02 No variant 25/25
BRCA2 20-03 c.9976A>T, p.Lys3326*, heterozygote 25/21
20-04 No variant 25/25
TP53 20-05 c.476C>T, p.Ala159Val, homozygote 8/8
20-06 No variant 8/8
ATP7B 20-07 c.3191A>C, p.Glu1064Ala, heterozygote(;)c.3207C>A, p.His1069Gln, heterozygote 9/9
20-08 Probably not Wilson disease 9/9
MT-TL1 20-09 No variant 6/6
20-10 No variant 6/6
MT-TK 20-11 m.8344A>G 5/5
20-12 No variant 5/5
GJB2 20-13 c.35del, p.Gly12Valfs*2, heterozygote 11/9
20-14 No variant 11/11
LHON 20-15 m.3460G>A 6/6
20-16 No variant 6/6
RET 20-17 c.2753T>C, p.Met918Thr, heterozygote 7/7
20-18 No variant 7/7
SCA 20-19 Positive, SCA causing allele with full penetrance 6/6
20-20 Normal (no risk of SCA) 6/6
APOE genotype 20-21 APOE ε3/ε3 genotype 47/47
20-22 APOE ε2/ε3 genotype 47/47
Achondroplasia 20-23 FGFR3, G380R mutation, POSITIVE 8/8
20-24 FGFR3, G380R mutation, NEGATIVE 8/8
MTHFR genotype 20-25 MTHFR 677C/Theterozygous genotype 14/14
20-26 MTHFR 677C/Theterozygous genotype 14/14
PWS/AS 20-27 Angelman syndrome 6/5
20-28 Normal methylation pattern 6/6
DMD 20-29 Exon 49-52 deletion 8/8
20-30 No deletion/duplication 8/8
HD 20-31 Full penetrance 5/5
20-32 No risk of HD 5/5
FMR1 20-33 Full mutation 9/9
20-34 No expansion 9/9
TGFBI 20-35 TGFBI, R124H mutation, NEGATIVE 14/14
20-36 TGFBI, R124H mutation, NEGATIVE 14/14
SBMA 20-37 Full penetrance 4/4
20-38 No risk of SBMA 4/4
SMA 20-39 SMN1, Exon7, homozygous deletion 9/9
20-40 Reduced probability of SMA 9/9
2020 2nd trials
ABO genotype 20-03 O/O genotype 16/16
20-04 B/O genotype 16/16
BRCA1 20-41 c.798_799del, p.Ser267Lysfs*19, heterozygote 27/27
20-42 No variant 26/26
BRCA2 20-43 c.5946del, p.Ser1982Argfs*22, homozygote 27/23
20-44 No variant 27/27
TP53 20-45 Ungraded 8
20-46 No variant 8/8
ATP7B 20-47 c.2930C>T, p.Thr977Met, heterozygote 10/10
20-48 Probably not Wilson disease 10/10
MT-TL1 20-49 No variant 6/6
20-50 No variant 6/6
MT-TK 20-51 m.8344A>G 5/5
20-52 No variant 5/5
GJB2 20-53 c.35del, p.Gly12Valfs*2, heterozygote(;)c.101T>C, p.Met34Thr, heterozygote 12/11
20-54 c.79G>A, p.Val27Ile, heterozygote 12/10
LHON 20-55 m.11778G>A 6/6
20-56 No variant 6/6
RET 20-57 c.1859G>T, p.Cys620Phe, heterozygote 7/7
20-58 No variant 7/7
SCA 20-59 Positive, SCA causing allele with full penetrance 7/7
20-60 Normal (no risk of SCA) 7/7
APOE genotype 20-61 APOE ε3/ε3 genotype 49/49
20-62 APOE ε3/ε3 genotype 49/49
Achondroplasia 20-63 FGFR3, G380R mutation, POSITIVE 8/8
20-64 FGFR3, G380R mutation, NEGATIVE 8/8
MTHFR genotype 20-65 MTHFR 677C/Theterozygous genotype 15/15
20-66 MTHFR 677C/Theterozygous genotype 15/15
PWS/AS 20-67 Prader-Willi syndrome 7/7
20-68 Normal methylation pattern 7/7
DMD 20-69 Exon 45 deletion 8/8
20-70 No deletion/duplication 8/8
HD 20-71 Full penetrance 6/6
20-72 No risk of HD 6/6
FMR1 20-73 Premutation 10/10
20-74 No expansion 10/10
TGFBI 20-75 TGFBI, R124H mutation, NEGATIVE 15/15
20-76 TGFBI, R124H mutation, NEGATIVE 15/15
SBMA 20-77 Full penetrance 5/5
20-78 No risk of SBMA 5/5
SMA 20-79 SMN1, Exon7, homozygous deletion 9/9
20-80 Reduced probability of SMA 9/9
2021 1st trials
ABO genotype 21-01 B/O genotype 18/18
21-02 B/O genotype 18/18
BRCA1 21-01 c.4327C>G, p.Ser1436=, heterozygote(;)c.4308T>C, p.Arg1443Gly, heterozygote 32/30
21-02 c.4308T>C, p.Arg1443Gly, heterozygote 32/30
BRCA2 21-03 c.6198_6199del, p.Ser2067Hisfs*10, heterozygote 32/31
21-04 No variant 32/32
TP53 21-05 c.524G>A, p.Arg175His, heterozygote 8/8
21-06 No variant 8/8
ATP7B 21-07 c.3191A>C, p.Glu1064Ala, heterozygotec.3207C>A, p.His1069Gln, heterozygote 10/10
21-08 Probably not Wilson disease 10/10
MT-TL1 21-09 No variant 6/6
21-10 No variant 6/6
MT-TK 21-11 m.8344A>G 5/5
21-12 No variant 5/5
GJB2 21-13 c.176_191del, p.Gly59Alafs*18, heterozygote(;)c.235del, p.Leu79Cysfs*3, heterozygote 9/9
21-14 No variant 9/9
LHON 21-15 m.11778G>A 7/7
21-16 No variant 7/7
RET 21-17 c.1853G>C, p.Cys618Ser, heterozygote 8/8
21-18 No variant 8/8
SCA 21-19 Positive, SCA causing allele with full penetrance 7/7
21-20 Normal (no risk of SCA) 7/7
APOE genotype 21-21 APOE ε3/ε3 genotype 50/50
21-22 APOE ε3/ε3 genotype 50/50
Achondroplasia 21-23 FGFR3, G380R mutation, POSITIVE 8/8
21-24 FGFR3, G380R mutation, NEGATIVE 8/8
MTHFR genotype 21-25 MTHFR 677C/Theterozygous genotype 14/14
21-26 Homozygous normal (wild type/wild type) 14/14
PWS/AS 21-27 Angelman syndrome 7/7
21-28 Normal methylation pattern 7/7
DMD 21-29 Exon 46-50 deletion 8/8
21-30 No deletion/duplication 8/8
HD 21-31 Full penetrance 6/6
21-32 No risk of HD 6/6
FMR1 21-33 Premutation 10/10
21-34 No expansion 10/10
TGFBI 21-35 TGFBI, R124H mutation, NEGATIVE 15/15
21-36 TGFBI, R124H mutation, NEGATIVE 15/15
SBMA 21-37 Full penetrance 5/5
21-38 No risk of SBMA 5/5
SMA 21-39 SMN1, Exon7, homozygous deletion 9/9
21-40 Reduced probability of SMA 9/9
2021 2nd trials
ABO genotype 21-03 B/B genotype 18/17
21-04 O/O genotype 18/16
BRCA1 21-41 c.5137del, p.Val1713*, heterozygote 30/29
21-42 No variant 30/30
BRCA2 21-43 c.125A>G, p.Tyr42Cys, heterozygote 30/29
21-44 No variant 30/30
TP53 21-45 c.652_654del, p.Val218del, homozygote 8/8
21-46 No variant 8/8
ATP7B 21-47 c.2930C>T, p.Thr977Met, heterozygote 10/10
21-48 Probably not Wilson disease 10/10
MT-TL1 21-49 No variant 6/6
21-50 No variant 6/6
MT-TK 21-51 m.8344A>G 5/5
21-52 No variant 5/5
GJB2 21-53 c.35del, p.Gly12Valfs*2, heterozygote(;)c.101T>C, p.Met34Thr, heterozygote 8/8
21-54 c.79G>A, p.Val27Ile, heterozygote 8/7
LHON 21-55 m.3460G>A 7/7
21-56 No variant 7/7
RET 21-57 c.2753T>C, p.Met918Thr, heterozygote 8/8
21-58 No variant 8/8
SCA 21-59 Positive, SCA causing allele with full penetrance 7/7
21-60 Normal (no risk of SCA) 7/7
APOE genotype 21-61 APOE ε3/ε3 genotype 48/48
21-62 APOE ε3/ε3 genotype 48/48
Achondroplasia 21-63 FGFR3, G380R mutation, POSITIVE 8/8
21-64 FGFR3, G380R mutation, NEGATIVE 8/8
MTHFR genotype 21-65 MTHFR 677C/Theterozygous genotype 14/14
21-66 MTHFR 677T/Thomozygous genotype 14/13
PWS/AS 21-67 Prader-Willi syndrome 7/7
21-68 Normal methylation pattern 7/7
DMD 21-69 Exon 4-43 deletion 8/8
21-70 No deletion/duplication 8/8
HD 21-71 Full penetrance 6/6
21-72 No risk of HD 6/6
FMR1 21-73 No expansion 10/10
21-74 No expansion 10/10
TGFBI 21-75 TGFBI, R124H mutation, NEGATIVE 15/15
21-76 TGFBI, R124H mutation, NEGATIVE 15/15
SBMA 21-77 Full penetrance 5/5
21-78 No risk of SBMA 5/5
SMA 21-79 SMN1, Exon7, homozygous deletion 8/8
21-80 Reduced probability of SMA 8/8

Abbreviations: S, specimen; T/A, total no. of participants/acceptable responses; MELAS, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes; MERRF, myoclonic epilepsy with ragged red fibers; LHON, Leber hereditary optic neuropathy; RET, multiple endocrine neoplasia 2; SCA, spinocerebellar ataxia; APOE, apolipoprotein E; MTHFR, methylenetetrahydrofolate reductase; PWS/AS, Prader-Willi and Angelman syndrome; DMD, Duchenne muscular dystrophy; HD, Huntington’s disease; FMR1, fragile X messenger ribonucloprotein 1; TGFBI, transforming growth factor beta induced; SBMA, spinal and bulbar muscular atrophy; SMA, spinal muscular atrophy

*Omit ‘GO’ or ‘GG’ from the specimen number

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