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eISSN 2234-3814

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