Laboratory Medicine and Quality Assurance

Table. 2.

Examples of liquid biopsy next-generation sequencing test results of the manufactured external quality assessment material

Gene Position by hg19 Accession no. Variant description Amino acid change Specimen 1 Specimen 2

Detection VAF (%) Estimated VAF (%) Detection VAF (%) Estimated VAF (%)
BRAF 7:140453136 NM_004333.4 c.1799T>A p.Val600Glu N 0 P 16.94 22.60
EGFR 7:55242465 NM_005228.5 c.2235_2249del p.Glu746_Ala750del P 11.45 24.67 N 0
EGFR 7:55249071 NM_005228.5 c.2369C>T p.Thr790Met N 0 P 5.30 17.95
EGFR 7:55259515 NM_005228.5 c.2573T>G p.Leu858Arg P 61.38 30.58 P 4.82 14.54
KIT 4:55570011 NM_000222.2 c.878A>G p.Asn293Ser P 7.76 17.19 N 0
KRAS 12:25398285 NM_004985.5 c.34G>A p.Gly12Ser N 0 P 15.92 19.91
PALB2 16:23646191 NM_024675.3 c.1676A>G p.Gln559Arg P 11.27 22.36 P 17.48 19.93
PIK3CA 3:178917478 NM_006218.4 c.353G>A p.Gly118Asp N 0 P 17.27 13.85
TP53 17:7577538 NM_000546.5 c.743G>A p.Arg248Gln P 23.29 66.67 N 0
TP53 17:7578290 NM_000546.5 c.560-1G>A p.? P 25.65 33.33 N 0

Abbreviations: VAF, variant allele frequency; N, negative; P, positive.

Lab Med Qual Assur 2022;44:174~180 https://doi.org/10.15263/jlmqa.2022.44.3.174
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