Hematología

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Producto	Tipo de test	Genes
Feocromocitoma/paragangliomas (incluye...	Exoma Dirigido	AIP, CDKN1B, FH, MAX, MEN1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL
Hemocromatosis	Gen NGS	HFE: Detección de las mutaciones Cys282Tyr, His63Asp y Ser65Cys
Hemocromatosis tipo 2A	Gen NGS	HFE2
Hemocromatosis tipo 3	Gen NGS	TFR2
Hemocromatosis, tipo 2B	Gen NGS	HAMP
Hemofilia A	Gen NGS	F8
Kostmann, Síndrome de (neutropenia severa...	Exoma Dirigido	ELANE, GFI1, HAX1, WAS, G6PC3, VPS45
Leucoencefalopatía Mielina Evanescente	Exoma Dirigido	EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5
Linfohistiocitosis hemofagocitica familiar	Exoma Dirigido	AP3B1, BLOC1S3, DTNBP1, HP, HPS1, HPS3, HPS4, HPS6, LYST, MLPH, MYO5A, PRF1, RAB27A, SH2D1A, STX11, STXBP2, UNC13D, XIAP
Metahemoglobinemia tipos I y II	Gen NGS	CYB5R3
Neutropenia cíclica (Neutropenia congénita...	Gen NGS	ELANE
Neutropenia congénita severa panel	Panel NGS	ELANE, GFI1, HAX1, WAS
Neutropenia congénita severa tipo 1	Gen NGS	ELANE
Neutropenia congénita severa tipo 2	Gen NGS	GFI1
Neutropenia Congénita Severa	Gen NGS	ELA2
Policitemia Vera	Gen NGS	JAK2

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