NewbornDx

The NewbornDx is the first comprehensive genetic test designed for newborns. The test uses DNA extracted from a Dried Blood Spot to interrogate 554 genes (25 disease categories) for the majority of phenotypes that present in the neonatal period for Mendelian disorders.

Clinical Research Prenatal Carrier

Test Details
Type◦ Molecular
◦ Multi-Gene Panel
Method◦ Sequencing, Next Gen
GenesAARS2, AASS, ABAT, ABCA12, ABCA3, ABCC2, ABCC8, ABCD4, ACAD8, ACAD9, ACADL, ACADS, ACADSB, ACADVL, ACAT1, ACOX1, ACSF3, ACTA1, ADA, ADAMTS13, ADK, AGA, AGL, AGXT, AHCY, AKR1D1, AKT2, ALAS2, ALDH3A2, ALDH5A1, ALDH7A1, ALDOA, ALDOB, ALK, ALMS1, ALOX12B, ALOXE3, ALPL, AMT, ANK1, AP2S1, APOC2, ARG1, ARL6, ARSA, ARSB, ARX, ASIP, ASL, ASPA, ASPM, ASS1, ATP2B2, ATP6V1B1, ATP7A, ATP7B, ATP8B1, ATR, ATRX, AUH, BCKDHA, BCKDHB, BCS1L, BRAF, BRCA2, BSND, BTD, CABP2, CACNA1C, CACNA1D, CASK, CASR, CBS, CCDC50, CCS, CD3D, CD3E, CDAN1, CDH23, CDK5RAP2, CDKL5, CDKN1C, CEACAM16, CENPJ, CEP152, CEP290, CERS3, CFTR, CHD7, CHM, CIB2, CLDN14, CLPP, CLRN1, COA5, COL1A2, COL2A1, COL7A1, COMP, COMT, COX15, CPS1, CPT1A, CPT2, CRTAP, CRYM, CSTB, CTNS, CTRC, CTSD, CYP11B1, CYP11B2, CYP17A1, CYP4F22, D2HGDH, DBT, DCLRE1C, DDC, DECR1, DEFB1, DFNA5, DFNB59, DHCR7, DIABLO, DIAPH1, DICER1, DLAT, DLD, DMPK, DNA2, DNAH11, DNAH5, DNAI1, DNAJC19, DSPP, DSTYK, DUOX2, DUOXA2, EDN3, EDNRB, EGR2, EIF2AK3, ELANE, EPB42, EPM2A, ESPN, ESRRB, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EYA1, EYA4, F10, F11, F13A1, F2, F5, F8, F9, FAH, FANCA, FANCB, FANCC, FANCD2, FBN1, FBP1, FGA, FGB, FGF3, FGFR2, FGFR3, FGG, FKTN, FOXE1, FOXG1, FOXI1, FOXRED1, FRAS1, FUCA1, G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATA1, GATA3, GATM, GBE1, GCDH, GCH1, GCK, GCSH, GIPC3, GJB2, GJB3, GJB6, GK, GLA, GLB1, GLDC, GLYCTK, GNA11, GNAS, GNE, GNMT, GNPTAB, GP1BA, GP1BB, GP9, GPC3, GPHN, GPR98, GPSM2, GRHL2, GRXCR1, GSS, GUSB, GYS2, H19, HADH, HADHA, HADHB, HARS, HBB, HESX1, HEXA, HEXB, HGD, HGF, HIBCH, HLCS, HMGCL, HMGCS2, HNF1A, HNF1B, HNF4A, HPD, HPRT1, HRAS, HSD3B2, IDUA, IER3IP1, IGF1, IGF1R, IL2RA, IL2RG, IL7R, ILDR1, INS, INSR, ITGA2B, ITGA6, ITGB3, ITGB4, IVD, JAG1, JAK3, KCNE1, KCNJ10, KCNJ11, KCNQ1, KCNQ1OT1, KCNQ2, KCNQ3, KCNQ4, KDM6A, KLF1, KMT2D, KRAS, KRT5, LAMA2, LAMA3, LAMB3, LAMC2, LCK, LHFPL5, LHX3, LHX4, LIAS, LIG4, LIPA, LIPN, LMBRD1, LOXHD1, LRPPRC, LRTOMT, MAN2B1, MAP2K1, MARVELD2, MAT1A, MCCC1, MCCC2, MCM4, MCPH1, MECP2, MEF2C, MIR96, MITF, MKKS, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MPC1, MPI, MPZ, MSRB3, MT-RNR1, MT-TS1, MTHFR, MTR, MTRR, MUT, MVK, MYCN, MYH14, MYH9, MYO15A, MYO1A, MYO1C, MYO1F, MYO3A, MYO6, MYO7A, NAA10, NAGS, NDN, NDUFA11, NDUFA2, NDUFA9, NDUFAF5, NDUFS2, NDUFS4, NDUFV2, NEU1, NFU1, NHEJ1, NHLRC1, NIPAL4, NIPBL, NKX2-1, NKX2-5, NOTCH2, NPC1, NPC2, NR0B1, NRAS, NSD1, OAT, OGDH, OPA3, OPLAH, OPRM1, OTC, OTOF, OTOG, OTOGL, OXCT1, P3H1, PAX2, PAX3, PAX8, PC, PCBD1, PCCA, PCCB, PCDH15, PCK1, PCNT, PDHA1, PDHB, PDHX, PDP1, PDX1, PDZD7, PEPD, PET100, PHGDH, PHOX2B, PKD2, PKHD1, PKLR, PLEC, PLOD1, PMM2, PMP22, PNP, PNPLA1, PNPO, PNPT1, POLG, POMC, POMT1, POMT2, POU1F1, POU3F4, POU4F3, PPM1K, PRKAG2, PRODH, PROP1, PROS1, PRPS1, PSAP, PSAT1, PSEN1, PSPH, PTF1A, PTPN11, PTPRC, PTPRQ, PTS, QDPR, RAB18, RAB3GAP1, RAB3GAP2, RAF1, RAG1, RAG2, RB1, RBBP8, RBM8A, RET, RMRP, RPS19, RPS6KA3, SALL1, SALL4, SBDS, SCN1A, SDHAF1, SERAC1, SERPINA1, SERPINB6, SERPINC1, SERPING1, SFTPB, SFTPC, SFTPD, SHOC2, SIX1, SIX5, SLC16A1, SLC17A8, SLC22A5, SLC25A1, SLC25A13, SLC25A19, SLC25A20, SLC26A2, SLC26A4, SLC26A5, SLC2A1, SLC37A4, SLC46A1, SLC4A1, SLC52A1, SLC5A5, SLC6A1, SLC7A7, SLC9A6, SLCO1B1, SLCO1B3, SMPD1, SMPX, SNAI2, SNRPN, SOS1, SOX10, SOX2, SOX3, SOX9, SPINK1, SPR, SPRED1, SPTA1, SPTAN1, SPTB, ST3GAL5, STAR, STIL, STXBP1, SUCLA2, SUCLG1, SUMF1, TCF4, TCN2, TECTA, TG, TGM1, THRA, TIMM8A, TJP2, TMC1, TMEM11, TMIE, TMPRSS3, TPO, TPRN, TRAP1, TRHR, TRIOBP, TRIP11, TRMU, TSC1, TSC2, TSHB, TSHR, TSPEAR, UBE3A, UCP2, UGT1A1, UMPS, UPB1, UQCC2, UQCRC2, UROS, USH1C, USH1G, USH2A, WAS, WDR62, WFS1, WHRN, WNK1, WT1, YY1, ZAP70, ZEB2
Ordering
Test CodeNBDX1.1
Test URLhttp://www.parabasegenomics.com/sites/default/files/images/newborndx_productsheet_0315_online.pdf
Turnaround Time7-10 days
Preferred SpecimenDried blood spot (on Spot Saver card) and Saliva (1 swab from included OC-100)
Alternate SpecimenWhole blood from both parents when available
ShippingUse supplied sample collection kit or request one from clientservices@parabasegenomics.com
Billing
Billing InfoFor direct billing: 857-288-0838
For third party billing: (P)844-409-7850, (F) 844-409-7851
Current CPT Code81425 x 1
New York Approved
ABN Required
 

Laboratory

Parabase Genomics
27 DRYDOCK AVE, 2ND FLOOR, BOSTON, MA, 02210
Boston
MA 02210
USA

email: labdirector@parabasegenomics.com

Lab Details

 

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