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BabyGenes – cribado genético neonatal

Especialidad Reproducción Humana y Medicina Fetal
Código Único E657
Técnica NGS + PCR + MLPA
Genes / Variantes 401 genes (ABCB11, ABCB4, ABCC8, ABCD1, ABCD4, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACSF3, ADA, ADAMTS13, ADGRV1, AGA, AGL, AHCY, AICDA, AK2, AKR1D1, ALDH5A1, ALDH7A1, ALDOA, ALDOB, ALPL, AMACR, AMT, AP1S1, APOA5, AQP2, ARG1, ARSA, ARSB, ASL, ASS1, ATP6V0A4, ATP6V1B1, ATP7A, ATP7B, ATP8B1, AUH, AVPR2, BAAT, BCKDHA, BCKDHB, BCKDK, BCL10, BLNK, BSND, BTD, BTK, CACNA1C, CARD11, CASR, CBLIF, CBS, CD247, CD320, CD3D, CD3E, CD3G, CD40, CD40LG, CD79A, CD79B, CDH23, CFTR, CIITA, CLCNKA, CLCNKB, CLDN16, CLDN19, CLRN1, CNGA3, COL1A1, COL1A2, COQ5, COQ8A, CORO1A, CP, CPS1, CPT1A, CPT2, CTNS, CXCR4, CYBA, CYBB, CYP11B1, CYP11B2, CYP17A1, CYP21A2, CYP27A1, CYP27B1, CYP2R1, CYP7A1, CYP7B1, DBT, DCLRE1C, DDC, DHCR7, DLAT, DLD, DMD, DNAJC19, DNMT3B, DOCK8, DUOX2, DUOXA2, EDN3, ELANE, ETFA, ETFB, ETFDH, ETHE1, EYA1, F8, F9, FAH, FBN1, FBP1, FGFR1, FGFR2, FGFR3, FOLR1, FOXE1, FOXI1, FOXN1, FOXP3, FUCA1, G6PC, G6PC3, G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATA2, GATM, GBA, GBE1, GCDH, GCH1, GCK, GFI1, GGCX, GH1, GJB2, GJB6, GLA, GLDC, GLIS3, GLRA1, GLRB, GLUL, GNMT, GPIHBP1, GRIN1, GRIN2A, GRIN2B, GSS, GUSB, GYS1, GYS2, HADH, HADHA, HADHB, HAX1, HBA1, HBA2, HBB, HCFC1, HESX1, HIBCH, HLCS, HMGCL, HMGCS2, HPD, HSD11B2, HSD17B10, HSD3B2, HSD3B7, IDS, IDUA, IFNGR1, IFNGR2, IGLL1, IGSF1, ELP1, IKBKB, IL12B, IL12RB1, IL2RA, IL2RG, IL7R, INS, INSR, IRF8, IRS4, ITK, IVD, IYD, JAK3, KCNJ1, KCNJ10, KCNJ11, KCNQ2, LCK, LCT, LHX3, LHX4, LIPA, LMBRD1, LMF1, LPL, MAGT1, MALT1, MAN2B1, MAP3K14, MAT1A, MC2R, MCCC1, MCCC2, MCEE, MFSD8, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MPI, MPL, MPO, MRAP, MTHFR, MTHFS, MTR, MTRR, MTTP, MMUT, MYD88, MYH9, MYO15A, MYO6, MYO7A, NAGS, NCF2, NCF4, NEUROG3, NFKB2, NHEJ1, NKX2-1, NKX2-5, NLRP3, NNT, NPC1, NPC2, NR0B1, OPA3, ORAI1, OTC, OTOF, OTX2, OXCT1, PAH, PAX8, PCBD1, PCCA, PCCB, PCDH15, PDHA1, PDHB, PDHX, PDP1, PGM1, PHEX, PHGDH, PHKA2, PHKB, PHKG2, PIGM, PIGO, PIK3CD, PIK3R1, PMM2, PNP, PNPO, POU1F1, POU3F4, PRF1, PRKDC, PROP1, PRPS1, PRRT2, PSAT1, PSPH, PTPRC, PTS, PYGL, QDPR, RAC2, RAG1, RAG2, RASGRP1, RB1, RFX5, RFXANK, RFXAP, RYR1, SAMD9, SCN2A, SCN8A, SCNN1A, SCNN1B, SCNN1G, SH2D1A, SI, SIX1, SIX5, SLC12A1, SLC16A1, SLC19A2, SLC19A3, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC26A3, SLC26A4, SLC27A5, SLC2A1, SLC2A2, SLC35C1, SLC37A4, SLC39A4, SLC46A1, SLC4A1, SLC52A2, SLC52A3, SLC5A1, SLC5A5, SLC6A5, SLC6A6, SLC6A8, SLC7A7, SLC7A9, SMN1, SMPD1, SOX3, SPR, SRY, STAR, STAT1, STAT3, STX11, STXBP2, TAP2, TAT, TAZ, TBL1X, TBX19, TCN2, TFRC, TG, TH, THRA, THRB, TJP2, TK2, TMC1, TMIE, TMPRSS3, TPK1, TPO, TPP1, TRHR, TRPM6, TSHB, TSHR, TTPA, TUBB1, UGT1A1, UNC13D, UNG, UROS, USH1C, USH1G, USH2A, VDR, VKORC1, VPS45, WAS, WIPF1, XIAP, ZAP70)
Días de procesamiento 40 dias habiles
Documentos necesarios Consentimiento: DO.LA.17, OO.LA.26 y orden médica con datos clínicos básicos
Tipo, Cantidad mínima y conservación de muestra Mucosa bucal, 3 cepillos (COPAN-Thermofisher), Temperatura ambiente, Sangre entera (2 tubos EDTA 2.5 ml). 1 tubo se envía, el otro se queda como respaldo refrigerado.
Descripción

El cribado genético neonatal detecta enfermedades genéticas como errores congénitos del metabolismo, alteraciones inmunológicas, renales y endocrinas, entre otras.
Descargar consentimiento DO.LA.17 Descargar consentimiento DO.LA.26