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Table. 1.

Table. 1.

Overview of the genes included in the NEOseq_ACTION panel, with associated diseases and curative medical actio

Category Disease Gene symbol Action
Inborn errors of metabolism of amino acids, organic acids, and fatty acids Biotinidase deficiency BTD Biotin supplementation
Carnitine deficiency SLC22A5 L-carnitine supplementation
Holocarboxylase synthetase deficiency HLCS Biotin supplementation
Homocystinuria MTHFR Vitamin B6, folic acid
Hyperphenylalaninemia GCH1, PTS, QDPR Tetrahydrobiopterin, L-DOPA, 5-hydroxytryptophan supplementation
Isolated methylmalonic acidemia MMAA, MMAB, MMADHC Hydroxycobalamin supplementation
Methylmalonic acidemia with homocystinuria MMACHC, MMADHC Hydroxycobalamin supplementation
N-acetylglutamate synthetase deficiency NAGS Carglumic acid (Carbaglu) treatment
Lysosomal storage diseases Cystinosis CTNS Cysteamine treatment
α-Mannosidosis MAN2B1 Stem cell transplantation
Aspartylglucosaminuria AGA Stem cell transplantation
Other lysosomal storage diseases ARSB, GAA, GALNS, GBA, GLA, IDS, IDUA, LIPA, TPP1 Enzyme replacement therapy
Immunodeficiency Immunodeficiency ADA, AK2, CD3D, CD3E, DCLRE1C, FOXN1, IL2RA, IL2RG, IL7R, JAK3, LCK, LIG4, MTHFD1, NFKBIA, NHEJ1, PEPD, PNP, PTPRC, RAG1, RAG2, STK4, TCN2, ZAP70 Stem cell transplantation
Other diseases Acrodermatitis enteropathica SLC39A4 Zinc supplementation
Hypophosphatasia ALPL Enzyme replacement therapy
Pyridoxine-dependent epilepsy ALDH7A1 Pyridoxine supplementation
Thiamine metabolism dysfunction syndrome 2 SLC19A3 Biotin and thiamine supplementation
Ann Lab Med 2023;43:280~289 https://doi.org/10.3343/alm.2023.43.3.280

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