Painel de triagem metabólica neonatal 352 genes: A4GALT, AAAS, ABCD1, ABCD3, ABCD4, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACBD5, ACOX1, ACOX2, ACSF3, ADAR, ADK, AHCY, ALDH18A1, ALDH4A1, ALDH6A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, AMACR, AMT, ARCN1, ARG1, ARSA, ASL, ASPA, ASS1, ATP13A2, ATP6AP1, ATP6AP2, ATP6V0A2, ATP6V1A, ATP6V1E1, AUH, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, BCAP31, BCAT2, BCKDHA, BCKDHB, BOLA3, BTD, C1GALT1C1, CA5A, CAD, CANT1, CBS, CCDC115, CD320, CFTR, CHST14, CHST3, CHST6, CHSY1, CLN2 (TPP1), CLN3, CLN5, CLN6, CLN8, CLPB, COG1, COG2, COG4, COG5, COG6, COG7, COG8, COPA, COPB2, CPS1, CPT1A, CPT2, CSGALNACT1, CTSD, CYP27A1, D2HGDH, DBT, DDOST, DHCR7, DHDDS, DLD, DNAJC12, DNAJC19, DNM1L, DOLK, DPAGT1, DPM1, DPM2, DPM3, DSE, ECHS1, EOGT, ETFA, ETFB, ETFDH, ETHE1, EXT1, EXT2, EXTL3, FAH, FKRP, FKTN, FLAD1, FTCD, FUK, FUT8, G6PC3, G6PD, GAA, GALC, GALE, GALK1, GALM, GALNT3, GALT, GAMT, GANAB, GATM, GCDH, GCGR, GCH1, GFPT1, GLA, GLDC, GLRX5, GLUL, GM2A, GMPPA, GMPPB, GNE, GNMT, GNPTAB, GNS, GORAB, GOSR2, GPAA1, GSS, HADH, HADHA, HADHB, HCFC1, HEXA, HEXB, HGSNAT, HIBCH, HLCS, HMGCL, HMGCS2, HPD, HSD17B10, HSD17B4, HTRA2, IBA57, IDS, IDUA, IFIH1, ISCA2, ISPD, IVD, JAGN1, KCTD7, LARGE1, LFNG, LIAS, LIPT1, LIPT2, LMBRD1, MAGT1, MAN1B1, MAT1A, MCCC1, MCCC2, MCEE, MFF, MFSD8, MGAT2, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOGS, MPDU1, MPI, MTHFR, MTR, MTRR, MUT, NADK2, NAGLU, NAGS, NANS, NFU1, NGLY1, NPC1, NPC2, NR0B1, NUS1, OAT, OGT, OPA3, OTC, OXCT1, PAH, PAPSS2, PC, PCBD1, PCCA, PCCB, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGAP2, PGAP3, PGM1, PGM3, PIGA, PIGB, PIGC, PIGG, PIGL, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGT, PIGU, PIGV, PIGW, PIGY, PMM2, PNPO, POFUT1, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PPM1K, PPT1, PRDX1, PRKCSH, PRODH, PROSC, PTS, QDPR, RFT1, RNASEH2A, RNASEH2B, RNASEH2C, RPN2, RXYLT1, SAMHD1, SAR1B, SCP2, SEC23A, SEC23B, SEC24D, SEC63, SERAC1, SGSH, SLC10A7, SLC16A1, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC25A32, SLC26A2, SLC2A1, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC35D1, SLC37A4, SLC39A8, SLC52A1, SLC52A2, SLC52A3, SLC6A8, SLC6A9, SLC7A7, SLC9A7, SMPD1, SPR, SRD5A3, SSR3, SSR4, ST3GAL3, ST3GAL5, STT3A, STT3B, SUCLA2, SUCLG1, TAT, TAZ, TCN2, TGDS, THAP11, TIMM50, TMEM165, TMEM199, TMEM70, TRAK1, TRAPPC11, TRAPPC12, TRAPPC2, TRAPPC6B, TRAPPC9, TREX1, TRIP11, TUSC3, VMA21, VPS13B, XYLT1, XYLT2, ZNF143.

Coleta: Swab bucal

Tipo: Preditivo