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Product | Type of test | Genes |
---|---|---|
Hemochromatosis | Gene NGS | HFE: Detección de las mutaciones Cys282Tyr, His63Asp y Ser65Cys |
Hemochromatosis type 2A | Gene NGS | HFE2 |
Hemochromatosis, type 2b | Gene NGS | HAMP |
Hemochromatosis, type 3 | Gene NGS | TFR2 |
Hemophagocytic lymphohistiocytosis, familial | Targeted Exome | AP3B1, BLOC1S3, DTNBP1, HP, HPS1, HPS3, HPS4, HPS6, LYST, MLPH, MYO5A, PRF1, RAB27A, SH2D1A, STX11, STXBP2, UNC13D, XIAP |
Hemophilia A | Gene NGS | F8 |
Kostmann syndrome (severe congenital... | Targeted Exome | ELANE, GFI1, HAX1, WAS, G6PC3, VPS45 |
Leukoencephalopathy with vanishing white... | Targeted Exome | EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5 |
Metahemoglobinemia tipos I y II | Gene NGS | CYB5R3 |
Pheochromocytoma/Paragangliomas (pituitary... | Targeted Exome | AIP, CDKN1B, FH, MAX, MEN1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL |
Policitemia Vera | Gene NGS | JAK2 |
Porfiria hepática aguda | Gene NGS | ALAD |
Porphyria cutanea tarda | Gene NGS | UROD |
Porphyria variegata | Gene NGS | PPOX |
Porphyria, acute intermittent | Gene NGS | HMBS |
Protoporfiria eritropoyética | Gene NGS | FECH |