Categorias Webs

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Producto	Tipo de test	Genes
Holoprosencefalia tipo 11	Gen NGS	CDON
Holoprosencefalia tipo 2	Gen NGS	SIX3
Holoprosencefalia tipo 3	Gen NGS	SHH
Holoprosencefalia tipo 4	Gen NGS	TGIF
Holoprosencefalia tipo 5	Gen NGS	ZIC2
Holoprosencefalia tipo 8	Gen NGS	FGF8
Holoprosencefalia tipo 9	Gen NGS	GLI2
Holt-Oram, síndrome	Gen NGS	TBX5
HRD (hipoparatiroidismo displasia renal...	Gen NGS	GATA3
Huntington like, enfermedad Tipo 1	Gen NGS	PRNP
Ictiosis	Exoma Dirigido	ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, CLDN1, CYP4F22, EBP, ERCC2, ERCC3, FLG, GBA, GJB2, GJB3, GJB4, GTF2H5, KRT1, KRT10, KRT2, LOR, MBTPS2, MPLKIP, NIPAL4, PEX7, PHYH, POMP, SLC27A4, SNAP29, SPINK5, ST14, STS, SUMF1, TGM1, VPS33B
Ictiosis	Gen NGS	CLDN1
Ictiosis congénita tipo feto Arlequín	Gen NGS	ABCA12
Ictiosis epidérmica superficial	Gen NGS	KRT2
Ictiosis Lamelar Congénita	Exoma Dirigido	TGM1, ALOX12B, CYP4F22, ALOXE3
Ictiosis lamelar congénita tipo 1	Gen NGS	TGM1

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