Categorias Webs

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Producto	Tipo de test	Genes
Amyotrophic lateral sclerosis	Gene NGS	C9ORF72
Analbuminemia	Gen NGS	ALB
Andermann, síndrome	Gen NGS	SLC12A6
Anemia Aplásica, Síndromes Hereditarios para	Exoma Dirigido	BRCA2, BRIP1, CSF3R, CTC1, DKC1, ELANE, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, G6PC3, GATA2, GFI1, HAX1, MPL, NHP2, NOP10, PALB2, RAD51C, RBM8A, RPL11, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, RTEL1, RUNX1, SBDS, SBF2, SLX4, SRP72, TERC, TERT, TINF2, USB1, VPS45, WAS, WRAP53, XRCC2
Anemia de células falciformes	Gen NGS	HBB
Anemia de Diamond-Blackfan tipo 3	Gen NGS	RPS24
Anemia de Diamond-Blackfan tipo 5	Gen NGS	RPL35A
Anemia de Diamond-Blackfan tipo 6	Gen NGS	RPL5
Anemia de Diamond-Blackfan tipo 7	Gen NGS	RPL11
Anemia de Fanconi	Exoma Dirigido	BRCA2, BRIP1, ERCC4, FANCI, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCL, FANCM, PALB2, RAD51C, SLX4
Anemia de Fanconi relacionada con XRCCR2	Gen NGS	XRCC2
Anemia de Fanconi tipo D2	Gen NGS	FANCD2
Anemia de Fanconi tipo E	Gen NGS	FANCE
Anemia de Fanconi tipo F	Gen NGS	FANCF
Anemia de Fanconi tipo I	Gen NGS	FANCI
Anemia de Fanconi tipo J	Gen NGS	BRIP1

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