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Highlighted Tests
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why choose ambry
A comprehensive neurological genetic test panel can help families find answers quickly and potentially guide them toward the best care for their child. The freedom that comes with these answers can help end the diagnostic odyssey, avoiding alternate and potentially invasive testing, offering the chance for an improved quality of life. It can also help healthcare providers predict medical risks that may be associated with the condition and may offer a chance to implement life-giving interventions. The sooner we can uncover the source of the condition the sooner we can work towards a treatment. In times like this a parents’ world comes to a standstill. Finding answers becomes critical.
Choose from one of our more frequently ordered tests listed below.
ExomeNext®
The world of genetics and our understanding of genetic causes for disease is rapidly changing. ExomeNext is a comprehensive test analyzing all 20,000 genes which has been successful in ending the diagnostic odyssey for 30% of undiagnosed patients. ExomeNext is uniquely positioned to analyze genes that are both related to and outside of the clinician’s differential diagnoses.
CustomNext-Neuro™
CustomNext-Neuro gives you the flexibility to choose up to 500 genes from our neurology menu associated with intellectual disability, autism spectrum disorders, and/or epilepsy so you can design a test that best fits the needs of your patient to find a clear diagnosis and inform medical management.
EpilepsyNext®
Identifying an underlying genetic cause for a patient’s epilepsy can provide a clear diagnosis, inform personalized medical management, and identify at-risk relatives. EpilepsyNext includes 124 genes accounting for approximately 60% of patients identified to have genetic epilepsies such as Dravet syndrome, epileptic encephalopathy, non-lesional focal epilepsy, and febrile-related seizures.
NeurodevelopmentNext-Expanded™
There is growing evidence of common neurodevelopmental pathways that could explain the significant overlap between a range of neurodevelopmental disorders. This panel of >1450 genes is designed to identify potential genetic causes of neonatal to childhood onset developmental delay, seizures, intellectual disability, developmental regression, and/or autism spectrum disorders. This test includes genes with moderate clinical validity and above and is regularly updated due to proactive review of current literature using internal, peer-reviewed clinical validity scheme (Smith ED, Radtke K, Rossi M, et al. 2017 Human mutation 38(5):600-608).
SNP Array
SNP Array (chromosomal microarray) is useful for identifying slight variation and is recommended as a first-tier genetic test. It is often used in the postnatal evaluation of individuals with multiple congenital anomalies, developmental delay/intellectual disability and autism spectrum disorders. As a cost-effective approach for other diagnoses including chronic kidney disease, congenital heart defects, and infantile spasms, our SNP Array is your first line of defense when it comes to identifying these disorders.
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Epilepsy
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Epilepsy Panels
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Epilepsy
Epilepsy Panels
Name TAT Genes EpiRapid® 10-14 days 22 EpilepsyNext® 2-4 weeks 124 EpilepsyNext-Expanded™ 2-4 weeks 919
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Comprehensive Testing
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Epilepsy
Comprehensive Testing
Name TAT Genes CustomNext-Neuro™ 2-4 weeks 1443 NeurodevelopmentNext-Expanded™ 4-6 weeks 1458 ExomeNext-Proband™ 6-8 weeks ~ 4,500 genes ExomeNext-Proband plus mtDNA 6-8 weeks ~ 4,500 genes ExomeNext-Duo™ 6-8 weeks ~ 4,500 genes ExomeNext-Duo plus mtDNA 6-8 weeks ~ 4,500 genes ExomeNext-Trio™ 6-8 weeks ~ 20,000 Genes ExomeNext-Trio plus mtDNA 6-8 weeks ~ 20,000 Genes SNP Array 14-21 days Whole Genome
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Epilepsy Panels
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Neurodevelopment
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Single Gene Test
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Neurodevelopment
Single Gene Test
Name TAT Genes FMR1 7-14 days 1
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Comprehensive Testing
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Neurodevelopment
Comprehensive Testing
Name TAT Genes AutismNext® 2-4 weeks 72 NeurodevelopmentNext™ 2-4 weeks 202 NeurodevelopmentNext-Expanded™ 4-6 weeks 1458 ExomeNext-Proband™ 6-8 weeks ~ 4,500 genes ExomeNext-Proband plus mtDNA 6-8 weeks ~ 4,500 genes ExomeNext-Duo™ 6-8 weeks ~ 4,500 genes ExomeNext-Duo plus mtDNA 6-8 weeks ~ 4,500 genes ExomeNext-Trio™ 6-8 weeks ~ 20,000 Genes ExomeNext-Trio plus mtDNA 6-8 weeks ~ 20,000 Genes SNP Array 14-21 days Whole Genome
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Single Gene Test
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Neurocutaneous / NeuroOncology
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Single Gene Tests
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Neurocutaneous / NeuroOncology
Single Gene Tests
Name TAT Genes Neurofibromatosis 2 (NF2) 14-21 days 1 Schwannomatosis 14-21 days 1 Legius syndrome 14-21 days 1 von Hippel-Lindau(VHL) disease 14-21 days 1 Ataxia-telangiectasia (AT) 14-21 days 1 Li-Fraumeni syndrome 14-21 days 1
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Targeted Panels
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Neurocutaneous / NeuroOncology
Targeted Panels
Name TAT Genes Tuberous sclerosis complex (TSC) 14-21 days 2 Hereditary hemorrhagic telangiectasia (HHT) 14-21 days 6 Nevoid basal cell carcinoma (Gorlin syndrome) 14-21 days 1
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Comprehensive Testing
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Neurocutaneous / NeuroOncology
Comprehensive Testing
Name TAT Genes BrainTumorNext® 14-21 days 29
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Single Gene Tests
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Familial Hemiplegic Migraine
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Familial Hemiplegic Migraine
Targeted Panels
Name TAT Genes Familial Hemiplegic Migraine 2-4 weeks 4
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Movement Disorders
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Movement Disorders
Movement Disorder Panels
Name TAT Genes Movement Disorders + Hypotonia Panel 14-21 days 81
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Exome & Microarray
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Exome & Microarray
Comprehensive Testing
Name TAT Genes ExomeNext-Proband™ 6-8 weeks ~ 4,500 genes ExomeNext-Proband plus mtDNA 6-8 weeks ~ 4,500 genes ExomeNext-Duo™ 6-8 weeks ~ 4,500 genes ExomeNext-Duo plus mtDNA 6-8 weeks ~ 4,500 genes ExomeNext-Trio™ 6-8 weeks ~ 20,000 Genes ExomeNext-Trio plus mtDNA 6-8 weeks ~ 20,000 Genes SNP Array 14-21 days Whole Genome
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Neurology
| Code | Test | Genes | TAT |
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| 9999 | ExomeNext® | Whole Exome | 8-12 weeks |
| 9545 |
CustomNext-Neuro™ |
Show all > 1440 genes
Hide genes AAAS, AARS, AARS2, AASS, ABAT, ABCC8, ABCC9, ABCD1, ABCD4, ABL1, ACAD8, ACAD9, ACADM, ACADVL, ACAT1, ACD, ACO2, ACOX1, ACP5, ACSF3, ACSL4, ACTB, ACTG1, ACTL6A, ACTL6B, ACVR1, ACVRL1, ACY1, ADAM22, ADAMTS10, ADAR, ADARB1, ADAT3, ADCY5, ADGRG1, ADK, ADNP, ADPRHL2, ADSL, AFF2, AFF4, AFG3L2, AGA, AGK, AGL, AGPS, AGTPBP1, AHCY, AHDC1, AHI1, AIFM1, AIMP2, AKT1, AKT2, AKT3, ALDH18A1, ALDH3A2, ALDH5A1, ALDH6A1, ALDH7A1, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ALPL, ALX1, ALX3, ALX4, AMACR, AMER1, AMPD2, AMT, ANK2, ANKLE2, ANKRD11, ANTXR1, AP1B1, AP1S1, AP1S2, AP3B1, AP3B2, AP3D1, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APC2, APOPT1, APTX, AQP2, ARCN1, ARFGEF2, ARG1, ARHGAP31, ARHGEF9, ARID1A, ARID1B, ARID2, ARL13B, ARL6, ARMC9, ARSA, ARSE, ARV1, ARX, ASAH1, ASH1L, ASL, ASNS, ASPA, ASPM, ASS1, ASXL1, ASXL2, ASXL3, ATAD1, ATAD3A, ATN1, ATP13A2, ATP1A2, ATP1A3, ATP2A2, ATP5A1, ATP5D, ATP6AP1, ATP6AP2, ATP6V0A2, ATP6V1A, ATP6V1B2, ATP7A, ATP7B, ATP8A2, ATR, ATRX, ATXN10, AUH, AUTS2, AVP, AVPR2, B3GALNT2, B3GALT6, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, B9D1, BAZ2B, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCKDHA, BCKDHB, BCKDK, BCL11A, BCL11B, BCOR, BCS1L, BDNF, BICD2, BMP4, BMPER, BOLA3, BPTF, BRAF, BRAT1, BRF1, BRPF1, BRSK2, BRWD3, BSCL2, BSND, BTD, BUB1B, C10orf2, C12orf4, C12orf57, C12orf65, C19orf12, C19orf70, C2CD3, C5orf42, CA2, CA5A, CA8, CACNA1A, CACNA1C, CACNA1D, CACNA1E, CACNA1G, CACNA2D2, CAD, CAMK2A, CAMK2B, CAMTA1, CAPN10, CARS2, CASK, CASR, CAV1, CBL, CBS, CBY1, CC2D1A, CC2D2A, CCBE1, CCDC115, CCDC88C, CCM2, CCND2, CDC42, CDC42BPB, CDC45, CDH11, CDH2, CDK10, CDK13, CDK5RAP2, CDK8, CDKL5, CDKN1C, CDON, CELF4, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP290, CEP41, CEP55, CEP85L, CHAMP1, CHD2, CHD3, CHD4, CHD7, CHD8, CHKB, CHMP1A, CHRNA2, CHRNA4, CHRNB2, CHST14, CHSY1, CIC, CIT, CKAP2L, CLCN4, CLDN16, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLPP, CLTC, CNKSR2, CNNM2, CNOT1, CNOT3, CNTNAP1, CNTNAP2, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COL18A1, COL3A1, COL4A1, COL4A2, COL4A3BP, COLEC11, COQ2, COQ4, COQ6, COQ8A, COQ9, COX10, COX15, COX20, COX6B1, COX7B, CPE, CPLX1, CPS1, CPT1A, CPT2, CRADD, CRB2, CRBN, CREBBP, CRLF1, CSDE1, CSF1R, CSNK2A1, CSNK2B, CSPP1, CSTB, CTBP1, CTC1, CTCF, CTNNA2, CTNNB1, CTNND2, CTSA, CTSD, CTSF, CUL3, CUL4B, CUX1, CUX2, CWC27, CWF19L1, CYB5R3, CYFIP2, CYP27A1, CYP27B1, CYP2U1, D2HGDH, DAG1, DARS, DARS2, DBH, DBT, DCAF17, DCC, DCHS1, DCPS, DCX, DDC, DDHD2, DDX11, DDX3X, DDX59, DEAF1, DEGS1, DENND5A, DEPDC5, DGUOK, DHCR24, DHCR7, DHDDS, DHFR, DHTKD1, DHX30, DIAPH1, DIS3L2, DKC1, DLAT, DLD, DLG3, DLG4, DLL1, DLL4, DMXL2, DNA2, DNAJC12, DNAJC5, DNAJC6, DNM1, DNM1L, DNMT3A, DNMT3B, DOCK3, DOCK6, DOCK7, DOLK, DONSON, DPAGT1, DPF2, DPH1, DPM1, DPYD, DPYS, DSCAM, DUOX2, DUOXA2, DYM, DYNC1H1, DYRK1A, EARS2, EBF3, EBP, ECHS1, ECM1, EED, EEF1A2, EFL1, EFTUD2, EHMT1, EIF2AK2, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF3F, EIF4A3, ELAC2, ELOVL4, ELP2, EMC1, EMG1, EMX2, ENG, ENPP1, EOGT, EP300, EPG5, EPM2A, EPRS, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ERF, ERLIN2, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EXOC7, EXOSC3, EXOSC9, EXTL3, EZH2, FA2H, FAM111A, FAM126A, FAM20C, FAM50A, FAR1, FARS2, FARSB, FASTKD2, FAT4, FBP1, FBXL4, FBXO11, FDXR, FGD1, FGF12, FGF14, FGF23, FGFR1, FGFR2, FGFR3, FH, FIBP, FIG4, FKRP, FKTN, FLNA, FLNB, FLVCR1, FLVCR2, FMN2, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, FOXRED1, FRMPD4, FRRS1L, FTCD, FTL, FTO, FTSJ1, FUCA1, FUT8, FXYD2, G6PC, GABBR2, GABRA1, GABRA2, GABRA3, GABRA5, GABRB2, GABRB3, GABRG2, GAD1, GALC, GALE, GALNT2, GALT, GAMT, GATA6, GATAD2B, GATM, GBA, GCDH, GDI1, GFAP, GFER, GFM1, GFM2, GJC2, GK, GLB1, GLDC, GLI2, GLI3, GLRA1, GLRA2, GLUD1, GLUL, GM2A, GMNN, GMPPA, GMPPB, GNAI1, GNAO1, GNAS, GNB1, GNB5, GNE, GNPAT, GNPTAB, GNS, GORAB, GOSR2, GPAA1, GPC3, GPC4, GPC6, GPHN, GPI, GPSM2, GPT2, GRIA1, GRIA2, GRIA3, GRID2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRM1, GRM7, GRN, GSS, GTPBP2, GTPBP3, GUCY1A3, GUSB, GYS1, H3F3A, H3F3B, HACE1, HADH, HARS, HAX1, HCCS, HCFC1, HCN1, HCN2, HDAC8, HECW2, HEPACAM, HERC1, HERC2, HESX1, HEXA, HEXB, HGSNAT, HIBCH, HIKESHI, HIST1H1E, HIVEP2, HK1, HLCS, HMGCL, HMGCS2, HNRNPH1, HNRNPH2, HNRNPK, HNRNPR, HNRNPU, HOXA1, HPD, HPDL, HPRT1, HRAS, HS2ST1, HSD17B10, HSD17B4, HSPG2, HTRA2, HUWE1, HYLS1, IARS, IARS2, IBA57, ICK, IDH2, IDS, IDUA, IFIH1, IFT172, IFT27, IGF1, IGF1R, IGF2, IGSF1, IKBKG, IL1RAPL1, INPP5E, INPP5K, INSR, INTS1, IQSEC2, IRF2BPL, IRX5, ISCA2, ISPD, ITPA, ITPR1, IVD, IYD, JAM3, JARID2, KANSL1, KARS, KAT6A, KAT6B, KAT8, KATNB1, KCNA2, KCNB1, KCNC1, KCNC3, KCND3, KCNH1, KCNJ1, KCNJ10, KCNJ11, KCNJ6, KCNK9, KCNMA1, KCNN2, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD3, KCTD7, KDM1A, KDM3B, KDM5B, KDM5C, KDM6A, KDM6B, KIAA0556, KIAA0586, KIAA0753, KIAA1109, KIAA2022, KIDINS220, KIF11, KIF14, KIF1A, KIF1BP, KIF2A, KIF5C, KIF7, KLHL7, KMT2A, KMT2B, KMT2C, KMT2D, KMT2E, KMT5B, KNL1, KPTN, KRAS, KRIT1, L1CAM, L2HGDH, LAMA1, LAMA2, LAMB1, LAMB2, LAMC3, LAMP2, LARGE1, LARP7, LARS, LARS2, LBR, LGI1, LGI4, LHX3, LIAS, LIG4, LINS, LIPT1, LMBRD1, LMNB1, LONP1, LRP2, LRPPRC, LSS, LYRM7, LYST, LZTFL1, LZTR1, MAB21L2, MACF1, MADD, MAF, MAG, MAGED2, MAGEL2, MAN1B1, MAN2B1, MANBA, MAOA, MAP1B, MAP2K1, MAP2K2, MAPK1, MAPK8IP3, MAPRE2, MASP1, MAST1, MBD5, MBOAT7, MBTPS2, MCCC1, MCCC2, MCEE, MCM3AP, MCOLN1, MCPH1, MDH2, MECP2, MED12, MED12L, MED13, MED13L, MED17, MED23, MED25, MED27, MEF2C, MEIS2, METTL23, METTL5, MFF, MFSD2A, MFSD8, MGAT2, MID1, MIPEP, MKKS, MKS1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MN1, MOCS1, MOCS2, MOGS, MPDU1, MPDZ, MPLKIP, MPV17, MRAP, MRAS, MRPS22, MRPS34, MSL3, MSTO1, MSX2, MTFMT, MTO1, MTOR, MTR, MTRR, MUT, MVK, MYCN, MYO5A, MYT1L, NAA10, NAA15, NACC1, NADK2, NAGA, NAGLU, NAGS, NALCN, NANS, NAPB, NARS2, NAXD, NAXE, NBEA, NBN, NCAPD2, NDE1, NDP, NDST1, NDUFA1, NDUFA10, NDUFA12, NDUFA2, NDUFA6, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB11, NDUFB3, NDUFB8, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NECAP1, NEDD4L, NEMF, NEU1, NF1, NFASC, NFIA, NFIB, NFIX, NFU1, NGLY1, NHLRC1, NHS, NIPBL, NKAP, NKX2-2, NKX2-5, NKX6-2, NLGN1, NLGN3, NLGN4X, NLRP3, NNT, NONO, NOVA2, NPC1, NPC2, NPHP1, NPRL2, NPRL3, NR2F1, NR4A2, NRAS, NRROS, NRXN1, NSD1, NSDHL, NSUN2, NT5C2, NTNG2, NTRK1, NTRK2, NUBPL, NUP107, NUP188, NUS1, OCLN, OCRL, OFD1, OGT, OPA1, OPA3, OPHN1, OSGEP, OTC, OTUD6B, OTX2, OXR1, PACS1, PACS2, PAFAH1B1, PAH, PAK1, PAK3, PANK2, PARN, PARS2, PAX8, PBX1, PC, PCBD1, PCCA, PCCB, PCDH12, PCDH19, PCK1, PCYT2, PDE10A, PDE4D, PDE6D, PDGFRB, PDHA1, PDHB, PDHX, PDSS1, PDSS2, PEPD, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGAP2, PGAP3, PGK1, PGM1, PGM3, PHF21A, PHF6, PHF8, PHGDH, PHIP, PHKA2, PHKG2, PIBF1, PIGA, PIGB, PIGG, PIGH, PIGK, PIGL, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGU, PIGV, PIGW, PIK3CA, PIK3R2, PLA2G6, PLAA, PLCB1, PLK4, PLOD3, PLP1, PMM2, PMPCA, PMPCB, PNKP, PNP, PNPLA6, PNPLA8, PNPO, PNPT1, POGZ, POLA1, POLG, POLR1C, POLR2A, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POP1, PORCN, POU1F1, POU3F3, PPA2, PPARG, PPM1D, PPP1CB, PPP1R15B, PPP1R21, PPP2CA, PPP2R1A, PPP2R5D, PPP3CA, PPT1, PQBP1, PREPL, PRF1, PRICKLE1, PRKAR1A, PRKRA, PRMT7, PROP1, PROSC, PRPS1, PRR12, PRRT2, PRUNE1, PSAP, PSMD12, PSPH, PTCH1, PTCHD1, PTDSS1, PTEN, PTPN11, PTPN23, PTRH2, PTS, PUF60, PUM1, PURA, PUS3, PUS7, PYCR1, PYCR2, QARS, QDPR, RAB11B, RAB18, RAB23, RAB27A, RAB39B, RAB3GAP1, RAB3GAP2, RAC1, RAD21, RAD51, RAF1, RAI1, RALA, RALGAPA1, RARS, RARS2, RBBP8, RBM10, RBM8A, RBPJ, RECQL4, RELN, RERE, RFT1, RHOBTB2, RIT1, RLIM, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF168, ROGDI, ROR2, RORA, RORB, RPGRIP1L, RPIA, RPL10, RPS6KA3, RRAS2, RRM2B, RSPRY1, RSRC1, RTEL1, RTN4IP1, RTTN, RYR2, SACS, SAMHD1, SAR1B, SASS6, SATB2, SBDS, SC5D, SCAF4, SCAMP5, SCAPER, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCO1, SCO2, SCYL1, SCYL2, SDCCAG8, SDHA, SDHAF1, SDHD, SEMA6B, SEPSECS, SERAC1, SERPINI1, SET, SETBP1, SETD1A, SETD1B, SETD2, SETD5, SF3B4, SFXN4, SGSH, SHANK2, SHANK3, SHH, SHMT2, SHOC2, SIAH1, SIK1, SIL1, SIM1, SIN3A, SIX3, SKI, SLC12A1, SLC12A3, SLC12A5, SLC12A6, SLC13A5, SLC16A1, SLC16A2, SLC17A5, SLC18A2, SLC19A2, SLC19A3, SLC1A3, SLC1A4, SLC25A1, SLC25A12, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC25A4, SLC25A42, SLC25A46, SLC2A1, SLC33A1, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC39A14, SLC39A8, SLC46A1, SLC4A4, SLC5A5, SLC5A7, SLC6A1, SLC6A3, SLC6A8, SLC7A7, SLC9A6, SMAD2, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE1, SMC1A, SMC3, SMG9, SMOC1, SMPD1, SMPD4, SMS, SNAP25, SNAP29, SNRPB, SNX14, SNX27, SON, SOS1, SOS2, SOX10, SOX11, SOX2, SOX5, SOX6, SOX9, SPAST, SPATA5, SPECC1L, SPG20, SPG7, SPOP, SPR, SPRED1, SPTAN1, SPTBN2, SPTBN4, SQSTM1, SRCAP, SRD5A3, SRP54, SSR4, ST3GAL5, STAG1, STAG2, STAMBP, STIL, STT3A, STUB1, STX1B, STXBP1, SUCLA2, SUCLG1, SUMF1, SUOX, SURF1, SUZ12, SYN1, SYNGAP1, SYNJ1, SYP, SYT1, SZT2, TACO1, TAF1, TAF2, TAF6, TANC2, TANGO2, TAOK1, TASP1, TAT, TBC1D20, TBC1D23, TBC1D24, TBC1D2B, TBCD, TBCE, TBCK, TBL1XR1, TBR1, TBX1, TBX19, TCF12, TCF20, TCF4, TCF7L2, TCTN1, TCTN2, TCTN3, TDP2, TECPR2, TELO2, TENM3, TET3, TFE3, THG1L, THOC2, THOC6, THRA, THRB, TIMM50, TIMM8A, TK2, TLK2, TMCO1, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM240, TMEM5, TMEM67, TMEM70, TMEM8C, TMEM94, TMTC3, TMX2, TNFRSF11A, TNR, TNRC6B, TOE1, TOR1A, TPK1, TPP1, TRAF7, TRAIP, TRAK1, TRAPPC11, TRAPPC6B, TRAPPC9, TREM2, TREX1, TRIM8, TRIO, TRIP12, TRIP4, TRIT1, TRMT1, TRMT10A, TRNT1, TRPM6, TRPS1, TRRAP, TSC1, TSC2, TSEN15, TSEN2, TSEN54, TSFM, TSHB, TSHR, TTC19, TTC8, TTI2, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP4, TUBGCP6, TUFM, TUSC3, TYROBP, UBA5, UBE2A, UBE3A, UBE3B, UBE4A, UBR1, UBTF, UCHL1, UGDH, UGP2, UGT1A1, UMPS, UNC80, UPB1, UPF3B, USP7, USP9X, VAC14, VAMP2, VARS, VARS2, VDR, VLDLR, VPS11, VPS13B, VPS13D, VPS4A, VPS53, VRK1, WAC, WARS2, WASF1, WASHC5, WDFY3, WDR26, WDR4, WDR45, WDR45B, WDR62, WDR73, WDR81, WFS1, WHSC1, WNT1, WNT5A, WWOX, XPA, XRCC4, XYLT1, YIF1B, YY1, ZBTB18, ZBTB20, ZBTB24, ZC4H2, ZDHHC9, ZEB2, ZFYVE26, ZIC1, ZIC2, ZMIZ1, ZMYND11, ZNF148, ZNF292, ZNF462, ZNF711, ZNHIT3, ZSWIM6 |
2-4 weeks |
| 6864 |
EpilepsyNext® |
ALDH7A1, AMT, ANKRD11, ARHGEF9, ARX, ASNS, ATP13A2, ATP1A2, ATP1A3, BRAT1, CACNA1A, CACNA1E, CASK, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, COL4A1, CSTB, CTSD, CTSF, DCX, DDC, DEPDC5, DNAJC5, DNM1, DYNC1H1, DYRK1A, EEF1A2, EHMT1, EPM2A, FLNA, FOLR1, FOXG1, FOXP1, GABRA1, GABRB3, GABRG2, GAMT, GATM, GLDC, GNAO1, GOSR2, GRIN1, GRIN2A, GRIN2B, GRN, H3F3A, HCN1, HNRNPU, IQSEC2, KCNA2, KCNB1, KCNC1, KCNH1, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, KIAA2022, LGI1, MBD5, MECP2, MEF2C, MFSD8, MOCS1, MOCS2, NGLY1, NHLRC1, PACS1, PCDH19, PHGDH, PIGA, PLCB1, PNKP, PNPO, POLG, PPT1, PRICKLE1, PRRT2, PURA, RHOBTB2, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SIK1, SLC13A5, SLC19A3, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, SNAP25, SPTAN1, ST3GAL5, STX1B, STXBP1, SYNGAP1, SZT2, TBC1D24, TBL1XR1, TCF4, TPP1, TRIO, TSC1, TSC2, TUBA1A, UBE3A, WDR45, ZEB2 | 2-4 weeks |
| 6860 |
NeurodevelopmentNext-Expanded™ |
Show all > 1450 genes
Hide genes AAAS, AARS, AARS2, AASS, ABAT, ABCC8, ABCC9, ABCD1, ABCD4, ABL1, ACAD8, ACAD9, ACADM, ACADVL, ACAT1, ACD, ACO2, ACOX1, ACP5, ACSF3, ACSL4, ACTB, ACTG1, ACTL6A, ACTL6B, ACVR1, ACVRL1, ACY1, ADAM22, ADAMTS10, ADAR, ADARB1, ADAT3, ADCY5, ADGRG1, ADK, ADNP, ADPRHL2, ADSL, AFF2, AFF4, AFG3L2, AGA, AGK, AGL, AGPS, AGTPBP1, AHCY, AHDC1, AHI1, AIFM1, AIMP2, AKT1, AKT2, AKT3, ALDH18A1, ALDH3A2, ALDH5A1, ALDH6A1, ALDH7A1, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ALPL, ALX1, ALX3, ALX4, AMACR, AMER1, AMPD2, AMT, ANK2, ANKLE2, ANKRD11, ANTXR1, AP1B1, AP1S1, AP1S2, AP3B1, AP3B2, AP3D1, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APC2, APOPT1, APTX, AQP2, ARCN1, ARFGEF2, ARG1, ARHGAP31, ARHGEF9, ARID1A, ARID1B, ARID2, ARL13B, ARL6, ARMC9, ARSA, ARSE, ARV1, ARX, ASAH1, ASH1L, ASL, ASNS, ASPA, ASPM, ASS1, ASXL1, ASXL2, ASXL3, ATAD1, ATAD3A, ATN1, ATP13A2, ATP1A2, ATP1A3, ATP2A2, ATP5A1, ATP5D, ATP6AP1, ATP6AP2, ATP6V0A2, ATP6V1A, ATP6V1B2, ATP7A, ATP7B, ATP8A2, ATR, ATRX, ATXN10, AUH, AUTS2, AVP, AVPR2, B3GALNT2, B3GALT6, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, B9D1, BAZ2B, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCKDHA, BCKDHB, BCKDK, BCL11A, BCL11B, BCOR, BCS1L, BDNF, BICD2, BMP4, BMPER, BOLA3, BPTF, BRAF, BRAT1, BRF1, BRPF1, BRSK2, BRWD3, BSCL2, BSND, BTD, BUB1B, C10orf2, C12orf4, C12orf57, C12orf65, C19orf12, C19orf70, C2CD3, C5orf42, CA2, CA5A, CA8, CACNA1A, CACNA1C, CACNA1D, CACNA1E, CACNA1G, CACNA2D2, CAD, CAMK2A, CAMK2B, CAMTA1, CAPN10, CARS2, CASK, CASR, CAV1, CBL, CBS, CBY1, CC2D1A, CC2D2A, CCBE1, CCDC115, CCDC88C, CCM2, CCND2, CDC42, CDC42BPB, CDC45, CDH11, CDH2, CDK10, CDK13, CDK5RAP2, CDK8, CDKL5, CDKN1C, CDON, CELF4, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP290, CEP41, CEP55, CEP85L, CHAMP1, CHD2, CHD3, CHD4, CHD7, CHD8, CHKB, CHMP1A, CHRNA2, CHRNA4, CHRNB2, CHST14, CHSY1, CIC, CIT, CKAP2L, CLCN4, CLDN16, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLPP, CLTC, CNKSR2, CNNM2, CNOT1, CNOT3, CNTNAP1, CNTNAP2, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COL18A1, COL3A1, COL4A1, COL4A2, COL4A3BP, COLEC11, COLGALT1, COQ2, COQ4, COQ6, COQ8A, COQ9, COX10, COX15, COX20, COX6B1, COX7B, CPE, CPLX1, CPS1, CPT1A, CPT2, CRADD, CRB2, CRBN, CREBBP, CRLF1, CSDE1, CSF1R, CSNK2A1, CSNK2B, CSPP1, CSTB, CTBP1, CTC1, CTCF, CTNNA2, CTNNB1, CTNND2, CTSA, CTSD, CTSF, CUL3, CUL4B, CUX1, CUX2, CWC27, CWF19L1, CYB5R3, CYFIP2, CYP27A1, CYP27B1, CYP2U1, D2HGDH, DAG1, DARS, DARS2, DBH, DBT, DCAF17, DCC, DCHS1, DCPS, DCX, DDC, DDHD2, DDX11, DDX3X, DDX59, DEAF1, DEGS1, DENND5A, DEPDC5, DGUOK, DHCR24, DHCR7, DHDDS, DHFR, DHTKD1, DHX30, DIAPH1, DIS3L2, DKC1, DLAT, DLD, DLG3, DLG4, DLL1, DLL4, DMXL2, DNA2, DNAJC12, DNAJC5, DNAJC6, DNM1, DNM1L, DNMT3A, DNMT3B, DOCK3, DOCK6, DOCK7, DOLK, DONSON, DPAGT1, DPF2, DPH1, DPM1, DPYD, DPYS, DSCAM, DUOX2, DUOXA2, DYM, DYNC1H1, DYRK1A, EARS2, EBF3, EBP, ECHS1, ECM1, EED, EEF1A2, EFL1, EFTUD2, EHMT1, EIF2AK2, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF3F, EIF4A3, ELAC2, ELOVL4, ELP2, EMC1, EMG1, EMX2, ENG, ENPP1, EOGT, EP300, EPG5, EPM2A, EPRS, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ERF, ERLIN2, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EXOC7, EXOSC3, EXOSC9, EXTL3, EZH2, FA2H, FAM111A, FAM126A, FAM20C, FAM50A, FAR1, FARS2, FARSB, FASTKD2, FAT4, FBP1, FBXL4, FBXO11, FDXR, FGD1, FGF12, FGF14, FGF23, FGFR1, FGFR2, FGFR3, FH, FIBP, FIG4, FKRP, FKTN, FLNA, FLNB, FLVCR1, FLVCR2, FMN2, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, FOXRED1, FRMPD4, FRRS1L, FTCD, FTL, FTO, FTSJ1, FUCA1, FUT8, FXYD2, G6PC, GABBR2, GABRA1, GABRA2, GABRA3, GABRA5, GABRB2, GABRB3, GABRG2, GAD1, GALC, GALE, GALNT2, GALT, GAMT, GATA6, GATAD2B, GATM, GBA, GCDH, GDI1, GFAP, GFER, GFM1, GFM2, GJC2, GK, GLB1, GLDC, GLI2, GLI3, GLRA1, GLRA2, GLUD1, GLUL, GM2A, GMNN, GMPPA, GMPPB, GNAI1, GNAO1, GNAS, GNB1, GNB5, GNE, GNPAT, GNPTAB, GNS, GORAB, GOSR2, GPAA1, GPC3, GPC4, GPC6, GPHN, GPI, GPSM2, GPT2, GRIA1, GRIA2, GRIA3, GRID2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRM1, GRM7, GRN, GSS, GTPBP2, GTPBP3, GUCY1A3, GUSB, GYS1, H3F3A, H3F3B, HACE1, HADH, HARS, HAX1, HCCS, HCFC1, HCN1, HCN2, HDAC8, HECW2, HEPACAM, HERC1, HERC2, HESX1, HEXA, HEXB, HGSNAT, HIBCH, HIKESHI, HIST1H1E, HIVEP2, HK1, HLCS, HMGCL, HMGCS2, HNRNPH1, HNRNPH2, HNRNPK, HNRNPR, HNRNPU, HOXA1, HPD, HPDL, HPRT1, HRAS, HS2ST1, HSD17B10, HSD17B4, HSPG2, HTRA2, HUWE1, HYLS1, IARS, IARS2, IBA57, ICK, IDH2, IDS, IDUA, IFIH1, IFT172, IFT27, IFT74, IGF1, IGF1R, IGF2, IGSF1, IKBKG, IL1RAPL1, INPP5E, INPP5K, INSR, INTS1, IQSEC2, IRF2BPL, IRX5, ISCA2, ISPD, ITPA, ITPR1, IVD, IYD, JAM3, JARID2, KANSL1, KARS, KAT6A, KAT6B, KAT8, KATNB1, KCNA2, KCNB1, KCNC1, KCNC3, KCND3, KCNH1, KCNJ1, KCNJ10, KCNJ11, KCNJ6, KCNK9, KCNMA1, KCNN2, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD3, KCTD7, KDM1A, KDM3B, KDM5B, KDM5C, KDM6A, KDM6B, KIAA0556, KIAA0586, KIAA0753, KIAA1109, KIAA2022, KIDINS220, KIF11, KIF14, KIF1A, KIF1BP, KIF2A, KIF5C, KIF7, KLHL7, KMT2A, KMT2B, KMT2C, KMT2D, KMT2E, KMT5B, KNL1, KPTN, KRAS, KRIT1, L1CAM, L2HGDH, LAMA1, LAMA2, LAMB1, LAMB2, LAMC3, LAMP2, LARGE1, LARP7, LARS, LARS2, LBR, LGI1, LGI4, LHX3, LIAS, LIG3, LIG4, LINS, LIPT1, LMBRD1, LMNB1, LONP1, LRP2, LRPPRC, LSS, LYRM7, LYST, LZTFL1, LZTR1, MAB21L2, MACF1, MADD, MAF, MAG, MAGED2, MAGEL2, MAN1B1, MAN2B1, MANBA, MAOA, MAP1B, MAP2K1, MAP2K2, MAPK1, MAPK8IP3, MAPRE2, MASP1, MAST1, MBD5, MBOAT7, MBTPS2, MCCC1, MCCC2, MCEE, MCM3AP, MCOLN1, MCPH1, MDH2, MECP2, MED12, MED12L, MED13, MED13L, MED17, MED23, MED25, MED27, MEF2C, MEIS2, METTL23, METTL5, MFF, MFSD2A, MFSD8, MGAT2, MID1, MIPEP, MKKS, MKS1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MN1, MOCS1, MOCS2, MOGS, MPDU1, MPDZ, MPLKIP, MPV17, MRAP, MRAS, MRPS22, MRPS34, MSL3, MSTO1, MSX2, MTFMT, MTO1, MTOR, MTR, MTRR, MUT, MVK, MYCN, MYO5A, MYT1L, NAA10, NAA15, NACC1, NADK2, NAGA, NAGLU, NAGS, NALCN, NANS, NAPB, NARS, NARS2, NAXD, NAXE, NBEA, NBN, NCAPD2, NDE1, NDP, NDST1, NDUFA1, NDUFA10, NDUFA12, NDUFA2, NDUFA6, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB11, NDUFB3, NDUFB8, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NECAP1, NEDD4L, NEMF, NEU1, NEUROD2, NF1, NFASC, NFIA, NFIB, NFIX, NFU1, NGLY1, NHLRC1, NHS, NIPBL, NKAP, NKX2-2, NKX2-5, NKX6-2, NLGN1, NLGN3, NLGN4X, NLRP3, NNT, NONO, NOVA2, NPC1, NPC2, NPHP1, NPRL2, NPRL3, NR2F1, NR4A2, NRAS, NRROS, NRXN1, NSD1, NSDHL, NSUN2, NT5C2, NTNG2, NTRK1, NTRK2, NUBPL, NUP107, NUP188, NUS1, OCLN, OCRL, OFD1, OGT, OPA1, OPA3, OPHN1, OSGEP, OTC, OTUD5, OTUD6B, OTX2, OXR1, PACS1, PACS2, PAFAH1B1, PAH, PAK1, PAK3, PANK2, PARN, PARS2, PAX8, PBX1, PC, PCBD1, PCCA, PCCB, PCDH12, PCDH19, PCK1, PCYT2, PDE10A, PDE4D, PDE6D, PDGFRB, PDHA1, PDHB, PDHX, PDSS1, PDSS2, PEPD, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGAP2, PGAP3, PGK1, PGM1, PGM3, PHF21A, PHF6, PHF8, PHGDH, PHIP, PHKA2, PHKG2, PIBF1, PIGA, PIGB, PIGG, PIGH, PIGK, PIGL, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGU, PIGV, PIGW, PIK3CA, PIK3R2, PLA2G6, PLAA, PLCB1, PLK4, PLOD3, PLP1, PMM2, PMPCA, PMPCB, PNKP, PNP, PNPLA6, PNPLA8, PNPO, PNPT1, POGZ, POLA1, POLG, POLR1C, POLR2A, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POP1, PORCN, POU1F1, POU3F3, PPA2, PPARG, PPM1D, PPP1CB, PPP1R15B, PPP1R21, PPP2CA, PPP2R1A, PPP2R5D, PPP3CA, PPT1, PQBP1, PREPL, PRF1, PRICKLE1, PRKAR1A, PRKRA, PRMT7, PROP1, PROSC, PRPS1, PRR12, PRRT2, PRUNE1, PSAP, PSMD12, PSPH, PTCH1, PTCHD1, PTDSS1, PTEN, PTPN11, PTPN23, PTRH2, PTS, PUF60, PUM1, PURA, PUS3, PUS7, PYCR1, PYCR2, QARS, QDPR, RAB11B, RAB18, RAB23, RAB27A, RAB39B, RAB3GAP1, RAB3GAP2, RAC1, RAD21, RAD51, RAF1, RAI1, RALA, RALGAPA1, RARS, RARS2, RBBP8, RBM10, RBM8A, RBPJ, RECQL4, RELN, RERE, RFT1, RHOBTB2, RIT1, RLIM, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF168, ROGDI, ROR2, RORA, RORB, RPGRIP1L, RPIA, RPL10, RPS6KA3, RRAS2, RRM2B, RSPRY1, RSRC1, RTEL1, RTN4IP1, RTTN, RYR2, SACS, SAMHD1, SAR1B, SASS6, SATB1, SATB2, SBDS, SC5D, SCAF4, SCAMP5, SCAPER, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCO1, SCO2, SCYL1, SCYL2, SDCCAG8, SDHA, SDHAF1, SDHB, SDHD, SEMA6B, SEPSECS, SERAC1, SERPINI1, SET, SETBP1, SETD1A, SETD1B, SETD2, SETD5, SF3B4, SFXN4, SGSH, SHANK2, SHANK3, SHH, SHMT2, SHOC2, SIAH1, SIK1, SIL1, SIM1, SIN3A, SIX3, SKI, SLC12A1, SLC12A2, SLC12A3, SLC12A5, SLC12A6, SLC13A5, SLC16A1, SLC16A2, SLC17A5, SLC18A2, SLC19A2, SLC19A3, SLC1A3, SLC1A4, SLC25A1, SLC25A12, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC25A4, SLC25A42, SLC25A46, SLC2A1, SLC33A1, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC39A14, SLC39A8, SLC46A1, SLC4A4, SLC5A5, SLC5A7, SLC6A1, SLC6A3, SLC6A8, SLC7A7, SLC9A6, SMAD2, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE1, SMC1A, SMC3, SMG9, SMOC1, SMPD1, SMPD4, SMS, SNAP25, SNAP29, SNRPB, SNX14, SNX27, SON, SOS1, SOS2, SOX10, SOX11, SOX2, SOX5, SOX6, SOX9, SPAST, SPATA5, SPECC1L, SPEN, SPG20, SPG7, SPOP, SPR, SPRED1, SPTAN1, SPTBN2, SPTBN4, SQSTM1, SRCAP, SRD5A3, SRP54, SSR4, ST3GAL5, STAG1, STAG2, STAMBP, STIL, STT3A, STUB1, STX1B, STXBP1, SUCLA2, SUCLG1, SUMF1, SUOX, SURF1, SUZ12, SYN1, SYNGAP1, SYNJ1, SYP, SYT1, SZT2, TACO1, TAF1, TAF2, TAF6, TANC2, TANGO2, TAOK1, TASP1, TAT, TBC1D20, TBC1D23, TBC1D24, TBC1D2B, TBCD, TBCE, TBCK, TBL1XR1, TBR1, TBX1, TBX19, TCF12, TCF20, TCF4, TCF7L2, TCTN1, TCTN2, TCTN3, TDP2, TECPR2, TELO2, TENM3, TET3, TFE3, THG1L, THOC2, THOC6, THRA, THRB, TIMM50, TIMM8A, TK2, TLK2, TMCO1, TMEM106B, TMEM107, TMEM138, TMEM216, TMEM222, TMEM231, TMEM237, TMEM240, TMEM5, TMEM67, TMEM70, TMEM8C, TMEM94, TMTC3, TMX2, TNFRSF11A, TNR, TNRC6B, TOE1, TOR1A, TPK1, TPP1, TRAF7, TRAIP, TRAK1, TRAPPC11, TRAPPC6B, TRAPPC9, TREM2, TREX1, TRIM8, TRIO, TRIP12, TRIP4, TRIT1, TRMT1, TRMT10A, TRNT1, TRPM6, TRPS1, TRRAP, TSC1, TSC2, TSEN15, TSEN2, TSEN54, TSFM, TSHB, TSHR, TTC19, TTC8, TTI2, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP4, TUBGCP6, TUFM, TUSC3, TYROBP, UBA5, UBE2A, UBE3A, UBE3B, UBE4A, UBR1, UBTF, UCHL1, UGDH, UGP2, UGT1A1, UMPS, UNC80, UPB1, UPF3B, USP7, USP9X, VAC14, VAMP2, VARS, VARS2, VDR, VLDLR, VPS11, VPS13B, VPS13D, VPS41, VPS4A, VPS53, VRK1, WAC, WARS2, WASF1, WASHC5, WDFY3, WDR26, WDR4, WDR45, WDR45B, WDR62, WDR73, WDR81, WFS1, WHSC1, WNT1, WNT5A, WWOX, XPA, XRCC4, XYLT1, YIF1B, YY1, ZBTB18, ZBTB20, ZBTB24, ZC4H2, ZDHHC9, ZEB2, ZFYVE26, ZIC1, ZIC2, ZMIZ1, ZMYND11, ZNF148, ZNF292, ZNF462, ZNF526, ZNF711, ZNHIT3, ZSWIM6 |
4-6 weeks |
| 5490 |
SNP Array |
Whole Genome | 14-21 days |
| 6862 |
EpiRapid® |
ALDH7A1, AMT, DDC, FOLR1, GLDC, KCNQ2, KCNQ3, KCNT1, MECP2, PCDH19, PNPO, POLG, PRRT2, SCN1A, SCN2A, SCN8A, SLC19A3, SLC2A1, SLC6A8, STXBP1, TSC1, TSC2 | 10-14 days |
| 6865 |
EpilepsyNext-Expanded™ |
Show all > 910 genes
Hide genes AAAS, AARS, AASS, ABAT, ABCC8, ABCD1, ACAD8, ACAD9, ACADM, ACADVL, ACAT1, ACO2, ACOX1, ACP5, ACSF3, ACTB, ACTG1, ACTL6B, ACVRL1, ACY1, ADAM22, ADARB1, ADAT3, ADGRG1, ADK, ADNP, ADPRHL2, ADSL, AFG3L2, AGK, AGL, AHCY, AHDC1, AIFM1, AIMP2, AKT2, AKT3, ALDH18A1, ALDH3A2, ALDH5A1, ALDH7A1, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG9, ALMS1, ALPL, AMACR, AMER1, AMPD2, AMT, ANK2, ANKLE2, ANKRD11, ANTXR1, AP1S2, AP3B2, AP3D1, AP4B1, AP4E1, AP4M1, AP4S1, APC2, APOPT1, AQP2, ARFGEF2, ARG1, ARHGAP31, ARHGEF9, ARID1A, ARID1B, ARL13B, ARMC9, ARSA, ARV1, ARX, ASAH1, ASL, ASNS, ASPA, ASPM, ASS1, ASXL1, ASXL2, ASXL3, ATAD1, ATAD3A, ATN1, ATP13A2, ATP1A2, ATP1A3, ATP2A2, ATP5A1, ATP5D, ATP6AP1, ATP6AP2, ATP6V0A2, ATP6V1A, ATP7A, ATR, ATRX, ATXN10, AUH, AUTS2, AVP, AVPR2, B3GALNT2, B4GALNT1, B4GAT1, BCAP31, BCKDHA, BCKDHB, BCKDK, BCL11A, BCL11B, BCS1L, BMP4, BOLA3, BRAF, BRAT1, BRPF1, BRSK2, BSCL2, BTD, BUB1B, C10orf2, C12orf57, C19orf70, C5orf42, CA5A, CACNA1A, CACNA1C, CACNA1D, CACNA1E, CACNA1G, CACNA2D2, CAD, CAMK2A, CAMK2B, CAPN10, CARS2, CASK, CASR, CAV1, CBS, CC2D1A, CC2D2A, CCDC115, CCDC88C, CCM2, CCND2, CDC42, CDH2, CDK10, CDK13, CDKL5, CENPJ, CEP85L, CHD2, CHD8, CHKB, CHRNA2, CHRNA4, CHRNB2, CIC, CIT, CKAP2L, CLCN4, CLDN16, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLPP, CLTC, CNKSR2, CNNM2, CNOT1, CNOT3, CNTNAP1, CNTNAP2, COG4, COG6, COG7, COG8, COL18A1, COL3A1, COL4A1, COL4A2, COL4A3BP, COLGALT1, COQ2, COQ4, COQ6, COQ8A, COQ9, COX10, COX15, COX20, COX6B1, CPLX1, CPS1, CPT1A, CPT2, CRB2, CRBN, CREBBP, CRLF1, CSDE1, CSF1R, CSNK2B, CSTB, CTC1, CTNNA2, CTNNB1, CTSA, CTSD, CTSF, CUL4B, CUX2, CYFIP2, CYP27B1, D2HGDH, DBH, DBT, DCX, DDC, DDX3X, DEAF1, DEGS1, DENND5A, DEPDC5, DGUOK, DHCR24, DHDDS, DHFR, DHTKD1, DHX30, DIAPH1, DLD, DLL1, DMXL2, DNAJC5, DNAJC6, DNM1, DNM1L, DNMT3A, DOCK6, DOCK7, DOLK, DPAGT1, DPM1, DPYD, DPYS, DYNC1H1, DYRK1A, EARS2, EBP, ECHS1, ECM1, EEF1A2, EFTUD2, EHMT1, EIF2AK2, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF3F, ELAC2, ELOVL4, EMG1, EMX2, ENG, ENPP1, EOGT, EP300, EPG5, EPM2A, ERLIN2, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EXOC7, EXOSC3, EXTL3, EZH2, FA2H, FAM111A, FAM126A, FAM50A, FAR1, FARS2, FARSB, FASTKD2, FBP1, FBXL4, FBXO11, FDXR, FGF12, FGF23, FGFR2, FGFR3, FH, FKTN, FLNA, FLVCR2, FMN2, FMR1, FOLR1, FOXG1, FOXP1, FOXRED1, FRMPD4, FRRS1L, FTSJ1, FUCA1, FUT8, FXYD2, G6PC, GABBR2, GABRA1, GABRA2, GABRA3, GABRA5, GABRB2, GABRB3, GABRG2, GAD1, GALC, GALNT2, GAMT, GATA6, GATAD2B, GATM, GBA, GCDH, GDI1, GFAP, GFM1, GFM2, GJC2, GK, GLB1, GLDC, GLI2, GLRA1, GLRA2, GLUD1, GLUL, GM2A, GNAI1, GNAO1, GNAS, GNB1, GNB5, GNE, GNS, GOSR2, GPAA1, GPC3, GPHN, GPSM2, GPT2, GRIA2, GRIA3, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRM1, GRM7, GRN, GSS, GTPBP2, GTPBP3, GUCY1A3, H3F3A, H3F3B, HACE1, HADH, HAX1, HCCS, HCFC1, HCN1, HCN2, HDAC8, HECW2, HEPACAM, HERC1, HERC2, HESX1, HEXA, HEXB, HGSNAT, HIBCH, HIVEP2, HLCS, HMGCL, HMGCS2, HNRNPH1, HNRNPH2, HNRNPR, HNRNPU, HOXA1, HPD, HPDL, HRAS, HSD17B10, HSD17B4, HTRA2, HUWE1, IARS2, IBA57, IDH2, IDS, IFIH1, IKBKG, IL1RAPL1, INPP5K, IQSEC2, IRF2BPL, ITPA, ITPR1, IVD, JAM3, KANSL1, KARS, KAT8, KATNB1, KCNA2, KCNB1, KCNC1, KCNH1, KCNJ1, KCNJ10, KCNJ11, KCNJ6, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD3, KCTD7, KDM3B, KDM5C, KDM6A, KDM6B, KIAA2022, KIF11, KIF2A, KIF5C, KIF7, KLHL7, KMT2B, KMT2D, KMT2E, KMT5B, KPTN, KRIT1, L2HGDH, LAMA2, LAMB1, LAMC3, LARS, LBR, LGI1, LGI4, LIAS, LIG3, LMNB1, LRPPRC, LSS, LYST, LZTFL1, MACF1, MADD, MAF, MAGED2, MAGEL2, MAN1B1, MAP1B, MAP2K1, MAP2K2, MAPK8IP3, MAPRE2, MAST1, MBD5, MBOAT7, MCCC1, MCCC2, MDH2, MECP2, MED12, MED17, MED27, MEF2C, METTL23, MFF, MFSD8, MGAT2, MIPEP, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MN1, MOCS1, MOCS2, MOGS, MPDU1, MPDZ, MRAP, MRPS22, MRPS34, MSL3, MSX2, MTFMT, MTO1, MTOR, MTR, MTRR, MYO5A, NAA10, NACC1, NADK2, NAGA, NAGLU, NAGS, NALCN, NANS, NAPB, NARS, NARS2, NAXD, NAXE, NBEA, NDE1, NDP, NDST1, NDUFA1, NDUFA2, NDUFA6, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB11, NDUFB8, NDUFS1, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NECAP1, NEDD4L, NEU1, NEUROD2, NFIA, NGLY1, NHLRC1, NIPBL, NLRP3, NNT, NPC1, NPC2, NPRL2, NPRL3, NR2F1, NR4A2, NRROS, NSD1, NSDHL, NSUN2, NTRK2, NUS1, OCLN, OCRL, OPHN1, OSGEP, OTC, OTUD6B, OXR1, PACS1, PACS2, PAFAH1B1, PAH, PAK1, PARS2, PC, PCCA, PCCB, PCDH12, PCDH19, PCK1, PCYT2, PDHA1, PDHX, PDSS2, PET100, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP3, PGK1, PHF21A, PHF6, PHGDH, PHKA2, PHKG2, PIGA, PIGB, PIGG, PIGH, PIGK, PIGL, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGU, PIGV, PIGW, PIK3CA, PIK3R2, PLA2G6, PLAA, PLCB1, PLK4, PLP1, PMM2, PMPCB, PNKP, PNPLA8, PNPO, PNPT1, POLA1, POLG, POLR3A, POU3F3, PPA2, PPARG, PPP2CA, PPP2R1A, PPP3CA, PPT1, PQBP1, PRF1, PRICKLE1, PRMT7, PROP1, PROSC, PRRT2, PRUNE1, PSAP, PSMD12, PSPH, PTCH1, PTEN, PTPN23, PTS, PUF60, PUM1, PURA, PYCR2, QARS, QDPR, RAB11B, RAB18, RAB27A, RAB39B, RAC1, RALA, RALGAPA1, RARS2, RBM10, RBM8A, RELN, RFT1, RHOBTB2, RMND1, RNASEH2A, RNASET2, ROGDI, RORA, RORB, RPGRIP1L, RPIA, RPL10, RPS6KA3, RRM2B, RSRC1, RTN4IP1, RTTN, RYR2, SACS, SASS6, SATB1, SATB2, SCAF4, SCAMP5, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCO1, SCYL2, SDCCAG8, SDHA, SDHD, SEMA6B, SEPSECS, SERAC1, SERPINI1, SETBP1, SETD1B, SETD2, SETD5, SFXN4, SGSH, SHANK3, SHH, SIK1, SIN3A, SIX3, SLC12A1, SLC12A3, SLC12A5, SLC12A6, SLC13A5, SLC16A1, SLC17A5, SLC18A2, SLC19A2, SLC19A3, SLC1A3, SLC1A4, SLC25A1, SLC25A12, SLC25A15, SLC25A20, SLC25A22, SLC25A4, SLC25A42, SLC2A1, SLC33A1, SLC35A1, SLC35A2, SLC35A3, SLC39A8, SLC46A1, SLC6A1, SLC6A8, SLC9A6, SMAD2, SMAD4, SMARCA2, SMARCB1, SMC1A, SMG9, SMPD4, SMS, SNAP25, SNX27, SON, SOX2, SPAST, SPATA5, SPTAN1, ST3GAL5, STAG1, STAMBP, STT3A, STX1B, STXBP1, SUCLA2, SUOX, SURF1, SYN1, SYNGAP1, SYNJ1, SYP, SYT1, SZT2, TACO1, TANC2, TANGO2, TBC1D23, TBC1D24, TBC1D2B, TBCD, TBCE, TBCK, TBL1XR1, TBX19, TCF4, TDP2, TECPR2, TELO2, TET3, TFE3, THOC2, TIMM50, TK2, TLK2, TMEM222, TMEM5, TMEM70, TMEM94, TMTC3, TMX2, TNFRSF11A, TOE1, TPK1, TPP1, TRAF7, TRAK1, TRAPPC11, TRAPPC6B, TRAPPC9, TREM2, TREX1, TRIM8, TRIO, TRIP12, TRIT1, TRMT1, TRMT10A, TRNT1, TRPM6, TRRAP, TSC1, TSC2, TSEN15, TSEN2, TSEN54, TSFM, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP6, TYROBP, UBA5, UBE2A, UBE3A, UBE4A, UBTF, UGDH, UGP2, UGT1A1, UNC80, UPF3B, USP7, USP9X, VAMP2, VARS, VARS2, VDR, VPS11, VPS53, WARS2, WASF1, WDR26, WDR4, WDR45, WDR45B, WDR62, WDR73, WFS1, WWOX, YIF1B, ZBTB18, ZC4H2, ZDHHC9, ZEB2, ZIC2, ZNF526, ZNHIT3, ZSWIM6 |
2-4 weeks |
| 9993 |
ExomeNext-Proband™ |
4500 | 6-8 weeks |
| 9994 |
ExomeNext-Proband plus mtDNA |
4500 | 6-8 weeks |
| 9991 |
ExomeNext-Duo™ |
4500 | 6-8 weeks |
| 9992 |
ExomeNext-Duo plus mtDNA |
4500 | 6-8 weeks |
| 9995 |
ExomeNext-Trio™ |
Whole Exome | 6-8 weeks |
| 9996 |
ExomeNext-Trio plus mtDNA |
Whole Exome | 6-8 weeks |
| 4544 |
FMR1 repeat analysis |
FMR1 | 7-14 days |
| 6863 |
AutismNext® |
ACSL4, ADNP, AFF2, ANK2, ASH1L, BRWD3, CAMK2A, CAMK2B, CC2D1A, CELF4, CHAMP1, CHD2, CHD3, CHD8, CIC, CREBBP, CTNNB1, CTNND2, DLL1, DYRK1A, EHMT1, EIF3F, ELP2, FMR1, FOXP1, FOXP2, FRMPD4, GABRB3, GRIA2, GRIA3, GRIN2B, HECW2, KDM5C, KMT2C, KMT5B, MAGEL2, MAOA, MECP2, MED12, MED13, MEF2C, NLGN3, NLGN4X, OPHN1, PAK3, PHIP, POGZ, PTCHD1, PTEN, RAB39B, RAI1, RORB, SETBP1, SETD2, SETD5, SHANK2, SHANK3, SYN1, TANC2, TBR1, TCF20, TCF7L2, TRIP12, TSC1, TSC2, UBE2A, UPF3B, WDFY3, YY1, ZDHHC9, ZMIZ1, ZNF292 | 2-4 weeks |
| 6861 |
NeurodevelopmentNext™ |
Show all 202 genes
Hide genes ABCD1, ACTB, ACTG1, ADNP, AHCY, AHDC1, ANK2, ANKRD11, ARHGEF9, ARID1A, ARID1B, ARID2, ARX, ASPM, ASXL1, ASXL3, ATP13A2, ATP1A3, ATP7A, ATRX, AUTS2, BCL11A, BCL11B, BRAF, BRAT1, BRPF1, CACNA1A, CAMK2B, CASK, CBL, CC2D1A, CC2D2A, CDK13, CDKL5, CEP290, CHD2, CHD3, CHD7, CHD8, CIC, CLCN4, CNTNAP2, COL4A1, CREBBP, CSNK2A1, CSNK2B, CTCF, CTNNB1, CUL4B, DDC, DDX3X, DEAF1, DHCR7, DHX30, DLG3, DNM1, DNMT3A, DPF2, DYNC1H1, DYRK1A, EBF3, EEF1A2, EFTUD2, EHMT1, EP300, FBXL4, FDXR, FGD1, FLNA, FMR1, FOXG1, GABRG2, GAMT, GATAD2B, GNAO1, GNB1, GRIA3, GRIN1, GRIN2A, GRIN2B, H3F3A, HDAC8, HECW2, HIST1H1E, HIVEP2, HNRNPH2, HNRNPK, HNRNPU, HRAS, HUWE1, IQSEC2, ITPR1, KANSL1, KAT6A, KAT6B, KCNB1, KCNQ2, KCNQ5, KDM5B, KDM5C, KDM6A, KIAA2022, KIF1A, KMT2A, KMT2B, KMT2D, KMT2E, KMT5B, KRAS, LZTR1, MAGEL2, MAP2K1, MAP2K2, MAPK8IP3, MBD5, MECP2, MED12, MED13L, METTL23, MRAS, MTOR, NAA15, NALCN, NF1, NFIA, NIPBL, NPC1, NR2F1, NRAS, NSD1, OTC, PACS1, PDHA1, PHF6, PMM2, POGZ, POLR2A, POU3F3, PPM1D, PPP1CB, PPP2R5D, PQBP1, PTEN, PTPN11, PUF60, PURA, RAD21, RAF1, RAI1, RERE, RIT1, RPS6KA3, SATB2, SCN1A, SCN2A, SCN3A, SCN8A, SETBP1, SETD2, SETD5, SHANK3, SHOC2, SIN3A, SLC16A2, SLC2A1, SLC6A1, SLC6A8, SMARCA2, SMARCA4, SMC1A, SMC3, SON, SOS1, SOS2, SOX5, SPAST, STAG1, STAG2, STXBP1, SURF1, SYNGAP1, TBL1XR1, TCF20, TCF4, TRAPPC9, TRIO, TRIP12, TRRAP, TSC1, TSC2, TUBA1A, TUBB, UBE3A, USP9X, VPS13B, WAC, WDR45, ZBTB18, ZBTB20, ZEB2, ZMYND11, ZNF292 |
2-4 weeks |
| 9024 |
NF2 seq and del/dup |
NF2 | 14-21 days |
| 7180 |
SMARCB1 seq and del/dup |
SMARCB1 | 14-21 days |
| 5724 |
SPRED1 seq and del/dup |
SPRED1 | 14-21 days |
| 2606 |
VHL seq and del/dup |
VHL | 14-21 days |
| 9014 |
ATM seq and del/dup |
ATM | 14-21 days |
| 2866 |
TP53 seq and del/dup |
TP53 | 14-21 days |
| 5904 |
TSC1/2 seq and del/dup |
TSC1, TSC2 | 14-21 days |
| 8672 |
HHTNext® |
ACVRL1, ENG, EPHB4, GDF2, RASA1, SMAD4 | 14-21 days |
| 5684 |
PTCH1 seq and del/dup |
PTCH1 | 14-21 days |
| 8847 |
BrainTumorNext® |
AIP, ALK, APC, CDKN1B, CDKN2A, DICER1, EPCAM, LZTR1, MEN1, MLH1, MSH2, MSH6, NBN, NF1, NF2, PHOX2B, PMS2, POT1, PRKAR1A, PTCH1, PTEN, SMARCA4, SMARCB1, SMARCE1, SUFU, TP53, TSC1, TSC2, VHL | 14-21 days |
| 6866 |
Familial Hemiplegic Migraine |
ATP1A2, CACNA1A, PRRT2, SCN1A | 2-4 weeks |
| 6867 |
Movement Disorders + Hypotonia Panel |
AARS, ABAT, ADCY5, ALDH5A1, ALDH7A1, AMT, AP1S2, ARHGEF9, ATP1A2, ATP1A3, ATP7B, BCKDHA, BCKDHB, COASY, DBT, DDC, DDX3X, DLD, DNAJC12, DNM1, EIF2AK2, ELP2, GAMT, GCDH, GCH1, GLDC, GLRA1, GLRB, GNAO1, GNB1, HPRT1, KCNB1, KCNMA1, KMT2B, MECR, MYBPC1, NBEA, NGLY1, NTNG2, PANK2, PCCA, PCCB, PDE10A, PGAP1, PLA2G6, PNKD, PNPO, PNPT1, PRRT2, PTS, QDPR, RHOBTB2, SCN2A, SCN8A, SERAC1, SGCE, SLC16A2, SLC17A5, SLC18A2, SLC2A1, SLC30A10, SLC39A14, SLC6A3, SLC6A5, SLC6A8, SLC9A6, SPR, SYT1, TET3, TH, TNR, TOR1A, TUBB4A, UBTF, VAC14, VAMP2, VPS13D, WARS2, WDR45, WDR73, YIF1B | 14-21 days |
why choose ambry
A comprehensive neurological genetic test panel can help families find answers quickly and potentially guide them toward the best care for their child. The freedom that comes with these answers can help end the diagnostic odyssey, avoiding alternate and potentially invasive testing, offering the chance for an improved quality of life. It can also help healthcare providers predict medical risks that may be associated with the condition and may offer a chance to implement life-giving interventions. The sooner we can uncover the source of the condition the sooner we can work towards a treatment. In times like this a parents’ world comes to a standstill. Finding answers becomes critical.
Choose from one of our more frequently ordered tests listed below.
ExomeNext®
The world of genetics and our understanding of genetic causes for disease is rapidly changing. ExomeNext is a comprehensive test analyzing all 20,000 genes which has been successful in ending the diagnostic odyssey for 30% of undiagnosed patients. ExomeNext is uniquely positioned to analyze genes that are both related to and outside of the clinician’s differential diagnoses.
CustomNext-Neuro™
CustomNext-Neuro gives you the flexibility to choose up to 500 genes from our neurology menu associated with intellectual disability, autism spectrum disorders, and/or epilepsy so you can design a test that best fits the needs of your patient to find a clear diagnosis and inform medical management.
EpilepsyNext®
Identifying an underlying genetic cause for a patient’s epilepsy can provide a clear diagnosis, inform personalized medical management, and identify at-risk relatives. EpilepsyNext includes 124 genes accounting for approximately 60% of patients identified to have genetic epilepsies such as Dravet syndrome, epileptic encephalopathy, non-lesional focal epilepsy, and febrile-related seizures.
NeurodevelopmentNext-Expanded™
There is growing evidence of common neurodevelopmental pathways that could explain the significant overlap between a range of neurodevelopmental disorders. This panel of >1450 genes is designed to identify potential genetic causes of neonatal to childhood onset developmental delay, seizures, intellectual disability, developmental regression, and/or autism spectrum disorders. This test includes genes with moderate clinical validity and above and is regularly updated due to proactive review of current literature using internal, peer-reviewed clinical validity scheme (Smith ED, Radtke K, Rossi M, et al. 2017 Human mutation 38(5):600-608).
SNP Array
SNP Array (chromosomal microarray) is useful for identifying slight variation and is recommended as a first-tier genetic test. It is often used in the postnatal evaluation of individuals with multiple congenital anomalies, developmental delay/intellectual disability and autism spectrum disorders. As a cost-effective approach for other diagnoses including chronic kidney disease, congenital heart defects, and infantile spasms, our SNP Array is your first line of defense when it comes to identifying these disorders.
Epilepsy Panels |
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Single Gene Test |
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Comprehensive Testing |
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Targeted Panels |
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Movement Disorder Panels |
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Please select a category to find your test or learn more about our highlighted tests below
