Neonatología

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Producto	Tipo de test	Genes
Candle, Síndrome de	Gen NGS	PSMB8
Craneosinostosis	Exoma Dirigido	ASXL1, CDC45, COLEC11, FGFR1, IHH, IL11RA, MEGF8, MSX2, POR, RAB23, RUNX2, SK1, WDR35, ZIC1
Disostosis acrofacial	Gen NGS	POLR1A
Encefalopatía epiléptica precoz	Gen NGS	STXBP1, SCN8A
Encefalopatía epiléptica precoz	Gen NGS	SCN8A,SCL2A1
Enfermedad veno-oclusiva pulmonar	Gen NGS	EIF2AK4
Fraser, síndrome	Gen NGS	FREM2
Fructosemia	Gen NGS	ALDOB
Heterotaxia	Gen NGS	ZIC3
Hiperekplexia o síndrome del Sobresalto...	Gen NGS	SLC6A5
Holt-Oram, síndrome	Gen NGS	TBX5
Leucodistrofia metacromática	Gen NGS	ARSA
Leucoencefalopatía Asociada al Tronco del...	Gen NGS	DARS2
Muerte súbita, Panel	Exoma Dirigido	ABCC9,ACTC ,ACTC1,AKAP9 ,ANK2,CACNA1C,CACNA1D,CACNA2D1,CACNB2,CACNB2B,CALM1,CALM2,CALM3,CASQ2,CAV3,DES,DMD , DSC2, DSG2, DSP, EMD, FGF12, FHL2, FLNC, GAA, GJA5, GLA, GPD1L, HCN4, HFE, IRX3, JUP, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK17, KCNQ1, KCNQ2, LAMP2, LDB3, LMNA, MURC, MYBPC3, MYH6,MYH7,MYL2,MYL3,NKX2-5, NOS1AP, NPPA, PKP2, PLN, PRKAG2, PTRF, RANGRF, RANGRF, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SLMAP, SNTA1, SYNE1, SYNE2, TAZ,TBX5,TMEM43,TNNC1,TNNI3,TNNI3K,TNNT2,TPM1,TRDN,TRPM4,TTR
Nail Patella, síndrome	Gen NGS	LMX1B
Osteogénesis Imperfecta	Panel NGS	COL1A2, COL1A1, CRTAP, LEPRE1

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