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eISSN 2234-3814

Table. 5. Pharmacogenetic tests covered in the Korean healthcare reimbursement system
Sector EDI code Method name Gene name
HLA typing D8413 Nucleic acid amplification HLA-B*58:01
D8414 Sequencing HLA-B*58:01
Hereditary genetic tests C5801 PCR-hybridization CYP2C9
MTHFR*
TPMT
VKORC1
CYP2C19
NUDT15
C1581 PCR-hybridization (multiple genes) CYP2C9, VKORC1
C5802 PCR-restriction fragment length polymorphism MTHFR*
C5806 Sequencing (≤ 10 reactions) CYP2C9
CYP2C19
TPMT
UGT1A1
VKORC1
NUDT15
C5807 Sequencing (10 < reactions ≤ 20) UGT1A1
CYP2C9
CYP2C19
CYP2D6
TPMT
C5808 Sequencing (20 G6PD
C5809 Sequencing (40 CFTR

*MTHFR testing is only reimbursable for diagnostic investigations in patients with homocysteinemia (methylenetetrahydrofolate reductase deficiency), not for pharmacogenetic investigations in patients undergoing methotrexate treatment. Sequencing tests for CYP2C9, CYP2C19, TPMT, and UGT1A1 are divided into two groups based on the number of sequencing reactions: those with ≤10 reactions and those with >10 but <20 reactions.

Abbreviation: EDI, electronic data exchange.

Ann Lab Med 2025;45:121~132 https://doi.org/10.3343/alm.2024.0572

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