Enhanced Panels

We use Illumina whole genome sequencing, filtering by disease-specific gene panels and enhancing those results by including the analysis of copy number variants, repeat expansions, and structural variants in the regions overlapping the gene panel. Gene panels are most useful when a patient is highly likely to be diagnosed based on a pre-defined gene list. Our sequence once and analyze often platform approach allows us to re-analyze negative gene panel results for the whole exome without incurring resequencing costs.

Enhanced Neurology Panel

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The Enhanced Neurology Panel is a clinical diagnostic genetic test designed to identify pathogenic variants in a panel of genes associated with the genetic causes of a broad spectrum of heterogeneous neurological diseases.

By using a whole genome sequencing platform methodology in conjunction with the Variantyx Genomic Intelligence® interpretation software, many more variants can be evaluated than is possible with standard gene panel tests. The Enhanced Neurology Panel test includes structural variants (SVs), which include small insertions and deletions (delins), deletions/duplications (del/dups) and larger copy number variants (CNVs), single nucleotide variants (SNVs) or small sequence changes, and short tandem repeats (STRs).

Key Features

The Enhanced Neurology Panel is an effective test to determine the genetic cause of neurological disorders, including:

    • Brian Malformations
    • Epilepsy Disorders
    • Motor neuron Disorders
    • Movement Disorders
    • Neurodevelopmental Disorders
    • Neuromuscular Disorders
    • Other Neuropathies

Variantyx’s testing methodology provides the most comprehensive variant detection available

  • SNVs – Identifies and characterizes small sequence changes
  • SVs – Identifies del/dups, delins, and CNVs when they overlap with associated genes in this panel
  • STRs – Identifies short tandem repeats in the following genes: AFF2*, AFF3*, DIP2B*, FMR1, AR, ATN1, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8OS, ATXN10, C9orf72, CACNA1A, CNBP, CSTB, DMPK, FXN, PPP2R2B; Optionally includes: HTT, JPH3

Included DISORDERS

    • Amytrophic lateral sclerosis
    • Ataxias
    • Charcot-Marie-Tooth
    • Congenital myasthenic syndrome
    • Dystonias
    • Epilepsies
    • Hereditary neuropathy with liability to pressure palsies (HNPP)
    • Huntington Disease
    • Mitochondrial myopathies
    • Muscular dystrophies
    • Myotonia and paramyotonia congenita
    • Spastic paraplegias
    • Spinal bulbar muscular atrophy
    • Parkinsons
    • Tyrosine hydroxylase deficiency

Test Characteristics

  • Clinical-grade whole genome sequencing is conducted on an Illumina platform using the Illumina TruSeq DNA PCR-Free Library Preparation Kit
  • The WGS backbone displays highly uniform sequencing depth
    • 30X mean mappable coverage
    • >97% of nucleotides covered at ≥8x
    • >99% of HGMD and ClinVar annotated variants covered at ≥8x
  • Highly sensitive and specific detection of SNVs for neurology panel genes
    • 99.922% sensitivity
    • >99.999% specificity
    • 99.918% positive predictive value for SNVs
  • Highly sensitive detection of structural variants
    • 96% clinical sensitivity for structural variants
    • In most cases, the exact genomic coordinates of the structural variant can be determined

Data Reporting

  • Variantyx’s testing methodology allows for an easy reflex from any of their targeted analyses to their Genomic Unity® Exome Plus Analysis without a need for a second patient sample.
  • Option of raw data transfer from clinical testing to be used for further research studies, if available.

Turn Around Time 8-10 weeks

How To Order

Associated Genes

A2M, AAAS, AANAT1, AARS1, AARS2, AASS, ABAT, ABCA1, ABCA7, ABCB7, ABCC6, ABCC8, ABCD1, ABCD4, ABHD12, ABHD5, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACAT1, ACE, ACER3, ACKR1, ACO2, ACOX1, ACSF3, ACSL4, ACTA2, ACTAT1, ACTB, ACTG1, ACVRL1, ACY1, ADAM10, ADAR, ADCK3, ADCY5, ADGRG1, ADGRV1, ADK, ADNP, ADSL, AFF2, AFG3L2, AGA, AGK, AGL, AGRN, AGXT, AHCY, AHDC1, AHI1, AIFM1, AIMP1, AKT1, AKT3, ALAD, ALAS2, ALDH181, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH5A2, ALDH6A1, ALDH7A1, ALDH7A2, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ALOX5AP, ALPL, ALS2, ALX1, ALX3, ALX4, AMACR, AMMECR1, AMN, AMPD1, AMPD2, AMT, ANG, ANK3, ANKLE2, ANKO5, ANKRD11, ANKTRX1, ANO10, ANO3, AP1S1, AP1S2, AP3B1, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APOA1, APOE, APP, APTX, AR, ARFGEF2, ARG1, ARHGAP31, ARHGEF10, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARL13B, ARL6, ARNT1, ARSA, ARSB, ARSE, ARSI, ARV1, ARX, ASAH1, ASCL1, ASL, ASNS, ASPA, ASPM, ASS1, ASXL1, ASXL3, ATAD3A, ATCAY, ATIC, ATL1, ATL3, ATM, ATN1, ATP13A2, ATP1A2, ATP1A3, ATP2A1, ATP2A2, ATP2B3, ATP2B4, ATP5E, ATP6AP2, ATP6V0A2, ATP7A, ATP7B, ATP8A2, ATPAF2, ATR, ATRX, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, AUH, AUT22, AUTS2, B3GALNT2, B3GLCT, B4GALNT1, B4GAT1, B4GLAT1, B9D1, B9D2, BAG3, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCKDHA, BCKDHB, BCKDK, BCL11A, BCOR, BCORL1, BCS1L, BDNF, BEAN1, BEST1, BICD2, BIN1, BLOC1S3, BLOC1S6, BMP4, BOLA3, BRAF, BRAT1, BRWD3, BSCL2, BSND, BTD, BVES, C12ORF57, C12ORF65, C19ORF12, C9ORF72, CA8, CACNA1A, CACNA1B, CACNA1D, CACNA1G, CACNA1H, CACNA1S, CACNA2D2, CACNB4, CACNG2, CAMTA1, CAPN1, CAPN3, CARS2, CASC5, CASK, CASR, CAV3, CBL, CC2D1A, CC2D2A, CCDC22, CCDC28B, CCDC78, CCDC88A, CCDC88C, CCM2, CCND2, CCT5, CD207, CD320, CD36, CD59, CD96, CDH15, CDK11A, CDK5RAP2, CDKL5, CDKN1C, CDKON, CEADD, CENPE, CENPF, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP290, CEP41, CEP63, CERS1, CFL2, CHAT, CHCHD10, CHCHD2, CHD2, CHD7, CHD8, CHKB, CHMP1A, CHMP2B, CHN1, CHRM3, CHRNA1, CHRNA2, CHRNA4, CHRNA7, CHRNB1, CHRNB2, CHRND, CHRNE, CHRNG, CHSY1, CISD2, CISH, CIT, CIZ1, CLCN1, CLCN2, CLCN4, CLCNKA, CLCNKB, CLIC2, CLN3, CLN5, CLN6, CLN8, CLP1, CLPP, CNBP, CNKSR2, CNOT3, CNTN1, CNTN6, CNTNAP2, CNTNAP4, COA5, COA8, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COL12A1, COL18A1, COL4A1, COL4A2, COL4A3BP, COL6A1, COL6A2, COL6A3, COL7A1, COLQ, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ9, COX10, COX15, COX20, COX6A1, COX6B1, COX7B, CP, CP2, CPA6, CPLANE1, CPLX1, CPOX, CPT2, CR1, CRBN, CREBBP, CRYAB, CSF1R, CSF2RB, CSNK2A1, CSPP1, CST3, CSTB, CTBP1, CTC1, CTCF, CTDP1, CTFD, CTNNB1, CTNND2, CTSD, CTSF, CUL4B, CWF19L1, CYP11B2, CYP27A1, CYP2U1, CYP7B1, D2HGDH, DAG1, DARS1, DARS2, DBT, DCAF17, DCAF8, DCHS1, DCTN1, DCX, DDC, DDHD1, DDHD2, DDOST, DDX3X, DEAF1, DEPDC5, DES, DGUOK, DHCR24, DHCR7, DHFR, DHH, DHTKD1, DIAPH1, DIAPH3, DIS3L2, DISP1, DKC1, DLAT, DLD, DLG3, DLL1, DLL4, DMD, DNAH9, DNAJB2, DNAJB6, DNAJC19, DNAJC5, DNAJC6, DNM1, DNM1L, DNM2, DNMT1, DNMT3A, DOCK6, DOCK7, DOCK8, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYD, DPYS, DRD2, DRD3, DSC3, DST, DTNBP1, DYNC1H1, DYNC2H1, DYRK1A, DYSF, EARS2, EBF3, EBP, ECHS1, ECM1, EDN3, EDNRB, EED, EEF1A2, EEF2, EFHC1, EFTUD2, EGR2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF4E, EIF4G1, ELK1, ELOVL4, ELOVL5, ELP1, EMD, EMX2, EN2, ENO3, ENTPD1, EOGT, EOMES, EP300, EPB41L1, EPM2A, ERBB4, ERCC1, ERCC2, ERCC5, ERCC6, ERCC8, ERLIN1, ERLIN2, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EXOC8, EXOSC3, EXOSC8, EZH2, F2, F5, FA2H, FADD, FAM126A, FAM134B, FANCB, FAR1, FARS2, FASTKD2, FAT4, FBLN5, FBXL4, FBXO38, FBXO7, FCGR2B, FECH, FGA, FGD1, FGD4, FGF10, FGF12, FGF14, FGF8, FGFR1, FGFR2, FGFR3, FGFRL1, FH, FHL1, FIG4, FKBP14, FKRP, FKTN, FLAD1, FLNA, FLNC, FLRT1, FLVCR1, FLVCR2, FMR1, FOLR1, FOXC1, FOXG1, FOXH1, FOXP1, FOXP2, FOXP3, FOXRED1, FREM1, FRG1, FRMD7, FRMPD4, FRRS1L, FTCD, FTL, FTO, FTSJ1, FUS, FXN, FZD9, GAA, GABBR2, GABRA1, GABRB2, GABRB3, GABRD, GABRG2, GAD1, GALC, GALNS, GAMT, GAN, GARS, GAS1, GATAD2B, GATM, GBA, GBA2, GBE1, GCDH, GCH1, GCSH, GDAP1, GDI1, GDNF, GFAP, GFER, GFM1, GFPT1, GGSN, GIGYF2, GJA1, GJB1, GJB3, GJC2, GK, GLA, GLB1, GLDC, GLI2, GLI3, GLRA1, GLRB, GLUL, GLYCTK, GM2A, GMPPB, GNAL, GNAO1, GNB1, GNB4, GNE, GNPAT, GNS, GOSR2, GP1BA, GPC3, GPHN, GPR143, GPSM2, GRIA3, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIP1, GRM1, GRM7, GRN, GSS, GTPBP3, GUF1, GUSB, GYG1, GYS1, HACE1, HADHA, HADHB, HAL, HARS1, HARS2, HCCS, HCFC1, HCN1, HCN4, HDAC4, HDAC6, HDAC8, HECW2, HEPACAM, HERC1, HERC2, HESX1, HEXA, HEXB, HFE, HGSNAT, HIBCH, HINT1, HIVEP, HK1, HMBS, HMGB3, HMGCS2, HNRNP2B1, HNRNPA1, HNRNPDL, HNRNPH2, HNRNPU, HOXA1, HOXD10, HPCA, HPD, HPRT1, HPS1, HPS3, HPS4, HPS5, HPS6, HPSE2, HRAS, HSD17B10, HSD17B4, HSPB1, HSPB3, HSPB8, HSPD1, HTRA1, HTRA2, HTT, HUWE1, HYAL1, IBA57, ICAM1, ICK, IDS, IDUA, IER3IP1, IFIH1, IFRD1, IFT140, IFT172, IFT27, IGBP1, IGF1, IGHMBP2, IKBKAP, IKBKG, IL11RA, IL1RAPL1, IL1RN, INF2, INPP5E, INS, IQSEC2, IRX5, ISCA2, ISCU, ISPD, ITGA7, ITM2B, ITN2B, ITPA, ITPR1, JMJD1C, JRK, KANK1, KANSL1, KARS, KAT6A, KAT6B, KATNB1, KBTBD13, KCNA1, KCNA2, KCNB1, KCNC1, KCNC3, KCND3, KCNE1L, KCNH1, KCNJ1, KCNJ10, KCNJ11, KCNJ2, KCNK19, KCNK9, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD17, KCTD7, KDM5C, KDM6A, KIAA0586, KIF11, KIF1A, KIF1B, KIF1BP, KIF1C, KIF21A, KIF2A, KIF4A, KIF5A, KIF5C, KIF7, KIFBP, KIRREL3, KLF8, KLHL15, KLHL40, KLHL41, KMT2A, KMT2B, KMT2D, KMT5B, KNL1, KPTN, KRAS, KRIT1, KRT5, L1CAM, L2HGDH, LAMA1, LAMA2, LAMB1, LAMB2, LAMC3, LAMP2, LARGE, LARGE1, LARS2, LAS1L, LBR, LDB3, LDHA, LETM1, LGI1, LHX4, LIAS, LIG4, LIMS2, LINS1, LIPT1, LITAF, LMBRD1, LMNA, LMNB1, LMNB2, LMOD3, LPIN1, LPIN2, LRP2, LRP4, LRPPRC, LRRK2, LRSAM1, LYRM7, LYZ, LZTFL1, MAG, MAGEL2, MAGI2, MAGT1, MAMLD1, MAN1B1, MAOA, MAP2K1, MAPK10, MAPT, MARS1, MARS2, MASP1, MAT1A, MATR3, MBD5, MBTPS2, MCEE, MCM3AP, MCOLN1, MCPH1, MCPH2, MECP2, MECR, MED12, MED13L, MED17, MED23, MED25, MEF2C, MEGF10, MET, MFN2, MFSD2A, MFSD8, MGAT2, MICU1, MID1, MID2, MKKS, MKS1, MLC1, MMAA, MMAB, MMACHC, MMADHC, MME, MOCS1, MOCS2, MOGS, MORC2, MPDU1, MPDZ, MPI, MPV17, MPZ, MRE11, MRPL44, MRPS22, MSX1, MSX2, MTFMT, MTHFR, MTM1, MTMR14, MTMR2, MTO1, MTOR, MTPAP, MTR, MTRR, MTTP, MUSK, MUT, MVK, MYCN, MYF6, MYH14, MYH2, MYH3, MYH7, MYH9, MYL2, MYO5A, MYOT, MYPN, MYT1L, NAA10, NACC1, NADK2, NAGA, NAGLU, NALCN, NAT8L, NBN, NDE1, NDP, NDRG1, NDST1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NEB, NECAP1, NEDD4L, NEFH, NEFL, NEMO, NEU1, NEXMIF, NF1, NFIA, NFIX, NFU1, NGF, NGLY1, NHEJ1, NHLRC1, NHS, NIPA1, NIPBL, NKX2-1, NLGN3, NLGN4X, NLRP12, NLRP3, NOD2, NODAL, NOG, NOL3, NONO, NOP56, NOS2, NOS3, NOTCH1, NOTCH2, NOTCH3, NPC1, NPC2, NPHP1, NPHP3, NPRL3, NR2F1, NRAS, NRG1, NRXN1, NSD1, NSD2, NSDHL, NSF5, NSUN2, NT5C2, NTRK1, NTRK2, NUBPL, NXF5, OCLN, OCRL, OFD1, OGT, OPA1, OPA3, OPHN1, OPTN, ORC1, OTC, OTX2, PABPN1, PACS1, PAFAH1B1, PAH, PAK3, PANK2, PARK2, PARK7, PAX6, PC, PCBD1, PCDH12, PCDH19, PCK2, PCNT, PDCD10, PDE6D, PDE8B, PDGFB, PDGFRB, PDHA1, PDK3, PDSS1, PDSS2, PDYN, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PFN1, PGAM2, PGAP1, PGAP2, PGK1, PGM1, PHF6, PHF8, PHGDH, PHKA1, PHOX2A, PHOX2B, PHYH, PIEZO2, PIGA, PIGL, PIGN, PIGO, PIGT, PIGV, PIK3CA, PIK3R2, PIK3R5, PINK1, PLA2G6, PLCB1, PLEC, PLEKHG2, PLEKHG4, PLEKHG5, PLK4, PLP1, PMM2, PMP22, PNKD, PNKP, PNPL86, PNPLA2, PNPLA6, PNPO, POGLUT1, POGZ, POLA1, POLG, POLG2, POLR1C, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PORCN, PPOX, PPP2R1A, PPP2R2B, PPP2R5D, PPT1, PQBP1, PRDM12, PREPL, PRF1, PRICKLE1, PRICKLE2, PRIMA1, PRKAG2, PRKCG, PRKCH, PRKDC, PRKN, PRKRA, PRNP, PRODH, PROP1, PRPH, PRPH2, PRPS1, PRRT2, PRRX1, PRSS12, PRX, PSAP, PSEN1, PSEN2, PTCH1, PTCHD1, PTEN, PTF1A, PTPN11, PTS, PURA, PUS1, PVRL1, PYCR2, PYGM, QARS1, QDPR, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAB40AL, RAB7A, RABGGTA, RAD21, RAD50, RAF1, RAI1, RANBP2, RAPSN, RARS1, RARS2, RASA1, RBBP8, RBCK1, RBFOX1, RBFOX3, RBM10, RBM8A, RBPJ, REEP1, REEP2, RELN, RET, RETREG1, RFT1, RIN2, RIT1, RLIM, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF135, RNF170, RNF216, RNU4ATAC, ROBO3, ROGDI, ROR2, RPGRIP1L, RPIA, RPL10, RPS6KA3, RPSK6C1, RRM2B, RSK2, RTN2, RTN4IP1, RTTN, RUBCN, RXYLT1, RYR1, SACS, SALL4, SAMHD1, SATB2, SBF1, SBF2, SCARB2, SCN10A, SCN11A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1, SCO2, SCP2, SDCCAG8, SDHA, SDHAF1, SDHB, SDHD, SELENON, SEPN1, SEPSECS, SEPT9, SERAC1, SERPINI1, SETBP1, SETD2, SETD5, SETX, SGCA, SGCB, SGCD, SGCE, SGCG, SGSH, SH3TC2, SHANK2, SHANK3, SHH, SHOC2, SHPK, SHROOM4, SIGMAR1, SIK1, SIL1, SIX3, SIX6, SKI, SLC12A5, SLC12A6, SLC13A5, SLC16A2, SLC17A5, SLC19A3, SLC1A2, SLC1A3, SLC1A4, SLC20A2, SLC22A5, SLC25A1, SLC25A12, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC25A3, SLC25A4, SLC25A46, SLC2A1, SLC30A10, SLC33A1, SLC35A1, SLC35A2, SLC35C1, SLC38A8, SLC39A8, SLC3A1, SLC46A1, SLC4A1, SLC4A4, SLC52A2, SLC52A3, SLC5A7, SLC6A1, SLC6A3, SLC6A5, SLC6A8, SLC9A6, SLC9A9, SMAD2, SMAD3, SMARCA2, SMARCA4, SMARCB1, SMC1A, SMC3, SMCHD1, SMN1, SMN2, SMPD1, SMS, SNAP25, SNAP29, SNCA, SNCAIP, SNCB, SNIP1, SNORD118, SNX14, SNX3, SOBP, SOD1, SORL1, SOS1, SOX10, SOX2, SOX3, SPAST, SPATA5, SPEG, SPG11, SPG20, SPG21, SPG7, SPR, SPTAN1, SPTBN2, SPTLC1, SPTLC2, SQSTM1, SRD5A3, SRPX2, SSR4, ST3GAL3, ST3GAL5, STAC3, STAG2, STAMBP, STAT1, STIL, STIM1, STRADA, STUB1, STX1B, STXBP1, SUCLA2, SUCLG1, SUMF1, SUN1, SUN2, SUOX, SURF1, SYN1, SYNE1, SYNE2, SYNGAP1, SYNJ1, SYP, SYT14, SYT2, SZT2, TACO1, TAF1, TAF15, TAF2, TANGO2, TARDBP, TARS2, TAS2R38, TAZ, TBC1D20, TBC1D24, TBC1D7, TBCD, TBCE, TBCK, TBK1, TBL1XR1, TBP, TBR1, TBX1, TCAP, TCF20, TCF4, TCTN1, TCTN2, TCTN3, TDGF1, TDP1, TECPR2, TECR, TFAP2A, TFAP2B, TFG, TG, TGFB1, TGFB2, TGFBR1, TGFBR2, TGIF1, TGM6, TH, THAP1, THOC2, TIA1, TICAM1, TIMM8A, TIRAP, TK2, TLR3, TLR5, TM4SF20, TMCO1, TMEM126A, TMEM126B, TMEM138, TMEM165, TMEM187, TMEM216, TMEM231, TMEM237, TMEM240, TMEM43, TMEM5, TMEM67, TMEM70, TMLHE, TNF, TNFSF4, TNNI2, TNNT1, TNPO3, TOR1A, TOR1AIP1, TP63, TPK1, TPM2, TPM3, TPP1, TRAF3, TRAPPC11, TRAPPC9, TREM2, TREX1, TRIM2, TRIM32, TRIO, TRIP12, TRIP4, TRMT10A, TRMT5, TRPM6, TRPM7, TRPS1, TRPV4, TSC1, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TSFN, TSHB, TSHR, TSPAN7, TTBK2, TTC19, TTC21B, TTC8, TTI2, TTN, TTP1, TTPA, TTR, TUBA1A, TUBA4A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP4, TUBGCP6, TUFM, TUSC3, TWIST1, TWNK, TYMP, TYROBP, UBA1, UBA5, UBE2A, UBE3A, UBQLN2, UCHL1, UMPS, UNC80, UNC93B1, UPB1, UPF3B, UQCRB, UQCRQ, UROD, UROS, USP27X, USP9X, VAMP1, VANGL1, VAPB, VARS2, VAX1, VCP, VDAC1, VEGFA, VHL, VIPAS39, VLDLR, VMA21, VPS11, VPS13A, VPS13B, VPS35, VPS37A, VPS53, VRK1, WAC, WASHC5, WDPCP, WDR26, WDR45, WDR48, WDR62, WDR73, WDR81, WFS1, WNK1, WNT10A, WNT3, WNT5A, WNT7A, WT1, WWOX, XBP1, XK, XPR1, XRCC4, YAP1, YARS1, YWHAE, YY1, ZBTB16, ZBTB18, ZC4H2, ZCCHC12, ZDHHC15, ZDHHC9, ZEB2, ZFR, ZFYVE26, ZFYVE27, ZIC2, ZIC3, ZMYM3, ZNF335, ZNF41, ZNF423, ZNF674, ZNF711, ZNF81   Regions not fully covered: PRODH, NEB, SIK1  *Orthogonal confirmation is not available for AFF2, AFF3, DIP2B

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Enhanced ALS Panel

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The Enhanced ALS Panel is a clinical diagnostic genetic test designed to identify pathogenic variants in a panel of genes associated with Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.

By using a whole genome sequencing platform methodology in conjunction with the Variantyx Genomic Intelligence® interpretation software, many more variants can be evaluated than is possible with standard gene panel tests. The Enhanced ALS Panel test includes structural variants (SVs), which include small insertions and deletions (delins), deletions/duplications (del/dups) and larger copy number variants (CNVs), single nucleotide variants (SNVs) or small sequence changes, and short tandem repeats (STRs).

Key Features

The Enhanced ALS Panel is an effective test to determine the genetic cause of Amyotrophic Lateral Sclerosis:

    • Juvenile Primary Lateral Sclerosis
    • Frontotemporal dementia with parkinsonism-17 (FTDP-17)
    • Infantile-onset ascending hereditary spastic paralysis
    • Spinal and bulbar muscular atrophy
    • GRN-related frontotemporal dementia

Variantyx’s testing methodology provides the most comprehensive variant detection available

  • SNVs – Identifies and characterizes small sequence changes
  • SVs – Identifies del/dups, delins, and CNVs when they overlap with associated genes in this panel
  • STRs – Identifies short tandem repeats in the following genes: C9orf72, AR, ATXN2

Test Characteristics

  • Clinical-grade whole genome sequencing is conducted on an Illumina platform using the Illumina TruSeq DNA PCR-Free Library Preparation Kit
  • The WGS backbone displays highly uniform sequencing depth
    • 30X mean mappable coverage
    • >97% of nucleotides covered at ≥8x
    • >99% of HGMD and ClinVar annotated variants covered at ≥8x
  • Highly sensitive and specific detection of SNVs for ALS panel genes
    • 99.921% sensitivity
    • >99.999% specificity
    • 99.953 positive predictive value for SNVs
  • Highly sensitive detection of structural variants
    • 96% clinical sensitivity for structural variants
    • In most cases, the exact genomic coordinates of the structural variant can be determined
  • Sensitive detection of tandem repeat allele counts for C9orf72, AR and ATXN2

Data Reporting

  • Variantyx’s testing methodology allows for an easy reflex from any of their targeted analyses to their Genomic Unity® Exome Plus Analysis without a need for a second patient sample.
  • Option of raw data transfer from clinical testing to be used for further research studies, if available.

Turn Around Time 8-10 weeks

How To Order

Associated Genes

ABCD1, ALS2, ANG, AR, ARHGEF28, ATXN2, C19orf12, C9orf72, CFAP410, CHCHD10, CHGB, CHMP2B, DAO, DCTN1, DNAJC7, EPHA4, ERBB4, EWSR1, FIG4, FUS, GLE1, GRN, HNRNPA1, HNRNPA2B1, KIF5A, MAPT, MATR3, MOBP, NEFH, NEK1, OPTN, PFN1, PLEKHG5, PNPLA6, PON1, PON2, PON3, PRF1, PRPH, SARM1, SCFD1, SETX, SIGMAR1, SLC52A2, SLC52A3, SOD1, SPG11, SQSTM1, SS18L1, TAF15, TARDBP, TBK1, TMEM106B, TREM2, TRPM7, TUBA4A, UBQLN2, UNC13A, VAPB, VCP, ZNF512B

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Enhanced Epilepsy Panel

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The Enhanced Epilepsy Panel is a clinical diagnostic genetic test designed to identify pathogenic variants in a panel of genes associated with genetic causes of epilepsy and disorders associated with seizures.

By using a whole genome sequencing platform methodology in conjunction with the Variantyx Genomic Intelligence® interpretation software, many more variants can be evaluated than is possible with standard gene panel tests. The Enhanced Epilepsy Panel test includes structural variants (SVs), which include small insertions and deletions (delins), deletions/duplications (del/dups) and larger copy number variants (CNVs), single nucleotide variants (SNVs) or small sequence changes, and short tandem repeats (STRs).

Key Features

The Enhanced Epilepsy Panel is an effective test to determine the genetic cause of epilepsy, including:

    • Genetic generalized epilepsies (GGE)
    • Focal epilepsies
    • Epileptic encephalopathy (EE)
    • Neurodevelopmental disorders associated with seizures
    • Metabolic disorders associated with seizures

Variantyx’s testing methodology provides the most comprehensive variant detection available

  • SNVs – Identifies and characterizes small sequence changes
  • SVs – Identifies del/dups, delins, and CNVs when they overlap with associated genes in this panel
  • STRs – Identifies short tandem repeats in the following genes: AFF2,* AFF3*, DIP2B*, FMR1, CSTB

Test Characteristics

  • Clinical-grade whole genome sequencing is conducted on an Illumina platform using the Illumina TruSeq DNA PCR-Free Library Preparation Kit
  • WGS backbone displays highly uniform sequencing depth
    • 30X mean mappable coverage
    • >97% of nucleotides covered at ≥8x
    • >99% of HGMD and ClinVar annotated variants
  • Highly sensitive and specific detection of SNVs for epilepsy panel genes
    • 99.922% sensitivity
    • >99.999% specificity
    • 99.931% positive predictive value for SNVs
  • Highly sensitive detection of structural variants
    • 96% clinical sensitivity for structural variants
    • In most cases, the exact genomic coordinates of the structural variant can be determined
  • Highly sensitive detection of structural variants
    • 96% clinical sensitivity for structural variants structural variant can be determined

Data Reporting

  • Variantyx’s testing methodology allows for an easy reflex from any of their targeted analyses to their Genomic Unity® Exome Plus Analysis without a need for a second patient sample.
  • Option of raw data transfer from clinical testing to be used for further research studies, if available.

Turn Around Time 8-10 weeks

How To Order

Associated Genes

AARS1, ABAT, ABCD1, ACY1, ADAR, ADGRG1, ADSL, AFG3L2, AGA, AIFM1, AIMP1, ALDH3A2, ALDH5A2, ALDH7A2, ALG13, ALG9, ALPL, AMACR, AMT, ANKRD11, AP4B1, AP4E1, AP4M1, AP4S1, ARFGEF2, ARG1, ARHGEF9, ARSA, ARV1, ARX, ASAH1, ASNS, ASPA, ASPM, ATP13A2, ATP1A2, ATP1A3, ATP2A2, ATP6AP2, ATP6V0A2, ATRX, BCKDK, BRAT1, BTD, C12ORF57, CACNA1A, CACNA1H, CACNA2D2, CACNB4, CARS2, CASK, CASR, CC2D1A, CDKL5, CERS1, CHD2, CHRNA2, CHRNA4, CHRNB2, CLCN2, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTNAP2, COA8, COL4A1, COX15, COX6B1, CP2, CPA6, CSF1R, CSTB, CTC1, CTFD, CTNNB1, CTSF, CUL4B, CYP27A1, D2HGDH, DARS1, DARS2, DCX, DDX3X, DEAF1, DEPDC5, DHFR, DNAJC5, DNM1, DOCK7, DPYD, DPYS, DYNC1H1, DYRK1A, EARS2, ECHS1, ECM1, EEF1A2, EFHC1, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EMX2, EPM2A, ETFDH, ETHE1, FA2H, FAM126A, FAR1, FARS2, FGD1, FGF12, FGFR3, FH, FKRP, FKTN, FLNA, FOLR1, FOXG1, FOXRED1, FRRS1L, GABBR2, GABRA1, GABRB2, GABRB3, GABRD, GABRG2, GALC, GAMT, GATM, GCDH, GCH1, GCSH, GFAP, GFM1, GJC2, GLB1, GLDC, GLRA1, GNAO (GNOA1), GNB1, GNE, GOSR2, GPC3, GPHN, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRN, GTPBP3, GUF1, HACE1, HCN1, HCN4, HECW2, HEPACAM, HIBCH, HNRNPU, HPRT1, HSD17B10, HSPB1, HTRA1, HTT, IBA57, IER3IP1, IQSEC2, ITPA, JMJD1C, KANSL1, KCNA1, KCNA2, KCNB1, KCNC1, KCNH1, KCNJ10, KCNJ11, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD17, KDM5C, KDM6A, KIF1A, KIFBP, KMT2D, L2HGDH, LAMA2, LARGE1, LGI1, LIAS, LMNB1, LMNB2, LRPPRC, MAGI2, MBD5, MCPH1, MCPH2, MED12, MEF2C, MFSD8, MLC1, MOCS1, MRPL44, MTFMT, MTOR, NACC1, NALCN, NDE1, NDUFA1, NDUFAF5, NDUFAF6, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NECAP1, NEDD4L, NEU1, NEXMIF, NFU1, NGLY1, NHLRC1, NIPBL, NOTCH3, NPRL3, NR2F1, NRXN1, NUBPL, OFD1, OPHN1, PAFAH1B1, PAK3, PCDH19, PEX7, PGK1, PHF6, PHGDH, PIGN, PIGO, PIGT, PIGV, PLCB1, PLP1, PNKD, PNKP, PNPO, POLG, POLR3A, POLR3B, POMGNT1, POMT1, POMT2, PPP2R5D, PPT1, PQBP1, PRICKLE1, PRICKLE2, PRIMA1, PRODH, PRRT2, PSAP, PTS, PURA, PYCR2, QARS1, QDPR, RAB39B, RAB3GAP1, RAI1, RARS1, RELN, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF216, ROGDI, SAMHD1, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SCO1, SDHAF1, SERAC1, SERPINI1, SETBP1, SETD2, SGCE, SHH, SIK1, SIX3, SLC12A5, SLC13A5, SLC19A3, SLC1A2, SLC25A1, SLC25A12, SLC25A15, SLC25A19, SLC25A22, SLC2A1, SLC35A2, SLC39A8, SLC46A1, SLC6A1, SLC6A8, SLC9A6, SMC1A, SMC3, SMS, SNORD118, SOX10, SPATA5, SPTAN1, SRPX2, ST3GAL3, ST3GAL5, STIL, STRADA, STX1B, STXBP1, SUCLA2, SUMF1, SUOX, SYN1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TBCD, TBCE, TBCK, TBL1XR1, TBX1, TCF4, TPK1, TPP1, TREX1, TSC1, TSC2, TSEN54, TTC19, TUBA1A, TUBA8, TUBB2B, TUBB4A, UBA5, UBE2A, UBE3A, UNC80, VPS13A, VPS13B, WDR26, WDR45, WDR62, WWOX, YY1, ZEB2, ZFYVE26  *Orthogonal confirmation is not available for AFF2, AFF3, DIP2B

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Enhanced Movement Disorder Panel

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The Enhanced Movement Disorder Panel is a clinical diagnostic genetic test designed to identify pathogenic variants in a panel of genes associated with movement disorders.

By using a whole genome sequencing platform methodology in conjunction with the Variantyx Genomic Intelligence® interpretation software, many more variants can be evaluated than is possible with standard gene panel tests. The Enhanced Movement Disorder Panel test includes structural variants (SVs), which include small insertions and deletions (delins), deletions/duplications (del/dups) and larger copy number variants (CNVs), single nucleotide variants (SNVs) or small sequence changes, and short tandem repeats (STRs).

Key Features

The Enhanced Movement Disorder Panel is an effective test to determine the genetic cause of congenital and adult-onset movement disorders, including:

    • Spinocerebellar ataxias (SCAs)
    • Friedreich Ataxia
    • Frontotemporal dementia with parkinsonism-17
    • Chorea-acanthocytosis
    • Joubert syndrome

Variantyx’s testing methodology provides the most comprehensive variant detection available

  • SNVs – Identifies and characterizes small sequence changes
  • SVs – Identifies del/dups, delins, and CNVs when they overlap with associated genes in this panel
  • STRs – Identifies short tandem repeats in the following genes AR, ATN1, ATXN1, ATXN2, ATXN3, ATXN7,
    ATXN8OS, ATXN10, C9orf72, CACNA1A, CNBP, CSTB, DMPK, FMR1, FXN, PP2R2B; Optionally includes: HTT, JPH3

Included DISORDERS

    • Ataxia with oculomotor apraxia
    • Ataxia with vitamin E deficiency
    • Ataxia-Telangiectasia, Ataxia-Telangiectasia-like disorder
    • Coenzyme Q10 deficiency
    • Dentatorubral-pallidoluysian atrophy (DRPLA)
    • Dopa-responsive dystonia
    • Episodic ataxia
    • Friedreich’s ataxia
    • Huntington disease
    • Huntington disease like 2
    • Infantile onset ascending spastic paraplegia
    • Idiopathic torsion dystonia of mixed type
    • Marinesco-Sjogren syndrome
    • Mitochondrial recessive ataxia syndrome
    • Myoclonus-Dystonia
    • Parkinson’s disease, Parkinsonism
    • Posterior column ataxia with retinitis pigmentosa
    • Primary torsion dystonia
    • Spinocerebellar ataxia
    • Spastic ataxia
    • Tyrosine hydroxylase deficiency

Test Characteristics

  • Clinical-grade whole genome sequencing is conducted on an Illumina platform using the Illumina TruSeq DNA PCR-Free Library Preparation Kit
  • • WGS backbone displays highly uniform sequencing depth
    • 30X mean mappable coverage
    • >97% of nucleotides covered at ≥8x
    • >99% of HGMD and ClinVar annotated variants covered at ≥8x
  • Highly sensitive and specific detection of SNVs for movement disorder panel genes
    • 99.904% sensitivity
    • >99.999% specificity
    • 99.892% positive predictive value for SNVs
  • Highly sensitive detection of structural variants
    • 96% clinical sensitivity for structural variants
    • In most cases, the exact genomic coordinates of the structural variant can be determined

Data Reporting

  • Variantyx’s testing methodology allows for an easy reflex from any of their targeted analyses to their Genomic Unity® Exome Plus Analysis without a need for a second patient sample.
  • Option of raw data transfer from clinical testing to be used for further research studies, if available.

Turn Around Time 8-10 weeks

How To Order

Associated Genes

ABCB7, ABHD12, ABHD5, ACO2, ADAR, ADCY5, AFG3L2, AHI1, ALDH5A1, ANO10, ANO3, APTX, ARL13B, ARL6, ARSA, ATCAY, ATM, ATN1, ATP13A2, ATP1A3, ATP2B3, ATP7B, ATP8A2, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BEAN1, CA8, CACNA1A, CACNA1B, CACNA1G, CACNB4, CAMTA1, CAPN1, CASK, CC2D2A, CCDC88C, CEP290, CEP41, CIZ1, CLCN2, CLN5, CLPP, COASY, COL6A3, COQ8A, COX20, CP, CPLANE1, CSTB, CWF19L1, CYP27A1, CYP2U1, DCAF17, DDC, DLAT, DNAJC19, DNAJC6, DNMT1, EBF3, EEF2, ELOVL4, ELOVL5, FA2H, FBXL4, FBXO7, FGF14, FLVCR1, FMR1, FTL, FXN, GBA2, GCDH, GCH1, GFAP, GLRA1, GNAO (GNOA1), GOSR2, GRID2, GRM1, GSS, HARS2, HEXA, HIBCH, HPCA, INPP5E, ITN2B, ITPR1, KCNA1, KCNC3, KCND3, KCNJ1, KCNMA1, KCTD17, KIF1C, KIF7, KMT2B, LAMA1, LARS2, LMNB1, LRPPRC, LRRK2, MAPT, MARS2, MECR, MKKS, MKS1, MME, MRE11, MTFMT, MTPAP, MTTP, NDUFAF6, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NKX2-1, NOL3, NPC1, NPC2, NPHP1, NUBPL, OFD1, OPA1, OPHN1, PANK2, PARK7, PDGFB, PDGFRB, PDYN, PEX7, PEX10, PHYH, PINK1, PLA2G6, PNKD, PNKP, PNPL86, POLG, POLR3A, POLR3B, PPP2R2B, PRKCG, PRKN, PRKRA, PRRT2, RELN, RNF216, RPGRIP1L, RUBCN, SACS, SCN2A, SCP2, SERAC1, SETX, SGCE, SIL1, SLC16A2, SLC19A3, SLC1A3, SLC20A2, SLC25A46, SLC2A1, SLC30A10, SLC52A2, SLC6A3, SLC9A6, SNCA, SNX14, SPG7, SPR, SPTBN2, STUB1, SYNE1, SYNJ1, SYT14, TAF1, TBP, TCTN1, TCTN2, TCTN3, TDP1, TGM6, TH, THAP1, TIMM8A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM240, TMEM67, TOR1A, TOR1AIP1, TPK1, TPP1, TRAPPC11, TRIM32, TTBK2, TTC19, TTC8, TTPA, TUBB4A, TWNK, UBA5, VAMP1, VLDLR, VPS13A, VPS35, WDPCP, WDR45, WDR81, WFS1, WWOX, XPR1, ZFYVE26, ZNF423

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Enhanced Intellectual Disability Panel

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The Enhanced Intellectual Disability Panel is a clinical diagnostic genetic test designed to identify pathogenic variants in a panel of genes associated with neurodevelopmental disorders, including intellectual disability and developmental delay.  Intellectual disability, the most common developmental disorder, includes a heterogeneous group of disorders characterized by significantly impaired intellectual functioning and deficits in adaptive behaviors, with symptoms such as delayed speech, hypotonia, and seizures.

By using a whole genome sequencing platform methodology in conjunction with the Variantyx Genomic Intelligence® interpretation software, many more variants can be evaluated than is possible with standard gene panel tests. The Enhanced Intellectual Disability Panel test includes structural variants (SVs), which include small insertions and deletions (delins), deletions/duplications (del/dups) and larger copy number variants (CNVs), single nucleotide variants (SNVs) or small sequence changes, and short tandem repeats (STRs).

Key Features

The Enhanced Intellectual Disability Panel is an effective test to determine the genetic causes of developmental delay and intellectual disability, including:

    • Coffin-Siris syndrome
    • SYNGAP1-related intellectual disability
    • Intellectual Disability with language impairment and autistic features (MRLIAF)
    • Fragile X syndrome
    • Fragile XE syndrome
    • 22q11 deletion syndrome

Variantyx’s testing methodology provides the most comprehensive variant detection available

  • SNVs – Identifies and characterizes small sequence changes
  • SVs – Identifies del/dups, delins, and CNVs when they overlap with associated genes in this panel
  • STRs – Identifies short tandem repeats in the following genes: AFF2*, AFF3*, DIP2B*, FMR1

Included DISORDERS

    • X-linked disorders
      • Alpha-thalassemia X-linked ID syndrome
      • CASK-related ID
      • CDKL deficiency disorder
      • Christianson syndrome
      • Coffin-Lowry syndrome
      • FG syndrome
      • Fragile X syndrome
      • Fragile XE syndrome
      • HIVEP2-related ID
      • L1 syndrome
      • Lujan syndrome
      • Monoamine oxidase deficiency
      • Partington syndrome
      • PPP2R5D-related ID
      • Renpenning syndrome
      • Rett syndrome
      • Siderius type X-linked ID
      • Sneider-Robinson syndrome
      • SYNGAP1-related ID
      • X-linked creatine deficiency
    • Autosomal disorders
      • ADNP syndrome
      • Aspartylglucosaminuria
      • Cohen syndrome
      • DOORS syndrome
      • DNMT2A overgrowth syndrome
      • Histidemia
      • Kaufman oculocerebrofacial syndrome
      • Koolen-de Vries syndrome
      • Mabry syndrome
      • MED13L syndrome
      • Mowat-Wilson syndrome
      • PACS1 syndrome
      • SATB2-associated syndrome
      • SETBP1 disorder
      • Smith-Kingsmore syndrome
      • Smith-Lemli-Opitz syndrome
      • WAGR syndrome
      • White-Sutton syndrome
      • Xia-Gibbs syndrome

Test Characteristics

  • Clinical-grade whole genome sequencing is conducted on an Illumina platform using the Illumina TruSeq DNA PCR-Free Library Preparation Kit
  • WGS backbone displays highly uniform sequencing depth
    • 30X mean mappable coverage
    • >97% of nucleotides covered at ≥8x
    • >99% of HGMD and ClinVar annotated variants covered at ≥8x
  • • Highly sensitive and specific detection of SNVs for intellectual disability panel genes.
    • 99.900% sensitivity
    • >99.999% specificity
    • 99.893% positive predictive value for SNVs
  • Highly sensitive detection of structural variants
    • 96% clinical sensitivity for structural variants
    • In most cases, the exact genomic coordinates of the structural variant can be determined

Data Reporting

  • Variantyx’s testing methodology allows for an easy reflex from any of their targeted analyses to their Genomic Unity® Exome Plus Analysis without a need for a second patient sample.
  • Option of raw data transfer from clinical testing to be used for further research studies, if available.

Turn Around Time 8-10 weeks

How To Order

Associated Genes

ABCD1, ACSL4, ADNP, AFF2, AGA, AHDC1, AIFM1, ALG13, AMMECR1, ANKRD11, AP1S2, AP4B1, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARSE, ARX, ASXL1, ASXL3, ATP6AP2, ATP7A, ATRX, AUT22, BCAP31, BCOR, BCORL1, BDNF, BRWD3, CA8, CACNA1A, CASK, CC2D1A, CCDC22, CDKL5, CHD2, CHD7, CHD8, CLCN4, CNKSR2, CNTNAP2, CREBBP, CSNK2A1, CTCF, CTNNB1, CTNND2, CUL4B, DCX, DDX3X, DHCR7, DKC1, DLG3, DMD, DNM1, DNMT3A, DYNC1H1, DYRK1A, EBP, EFTUD2, EHMT1, EIF2S3, EP300, EZH2, FANCB, FGD1, FLNA, FMR1, FOLR1, FOXG1, FOXP1, FRMPD4, FTCD, FTSJ1, GAMT, GATAD2B, GATM, GDI1, GK, GNAO1, GPC3, GRIA3, GRIN1, GRIN2A, GRIN2B, HAL, HCCS, HCFC1, HCN1, HDAC6, HDAC8, HIVEP, HMGB3, HNRNPH2, HNRNPU, HOXA1, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IKBKG, IL1RAPL1, IQSEC2, ITPR1, KANSL1, KAT6A, KCNB1, KCNJ10, KDM5C, KDM6A, KIF1A, KIF4A, KLF8, KLHL15, KMT2A, KMT2D, L1CAM, LAMP2, LAS1L, LINS1, MAGT1, MAN1B1, MAOA, MAP2K1, MBD5, MBTPS2, MECP2, MED12, MED13L, MED23, MEF2C, MID1, MID2, MTM1, MTOR, MYT1L, NAA10, NALCN, NDP, NDUFA1, NEXMIF, NF1, NHS, NIPBL, NLGN3, NLGN4X, NONO, NR2F1, NRXN1, NSD1, NSDHL, NSF5, NSUN2, OCRL, OFD1, OGT, OPHN1, OTC, PACS1, PAK3, PAX6, PCDH19, PDHA1, PGAP2, PGK1, PHF6, PHF8, PIGA, PIGO, PIGV, PLA2G6, PLP1, PNKP, POGZ, POLA1, PORCN, PPP2R5D, PPT1, PQBP1, PRPS1, PTCHD1, PTEN, PTPN11, PURA, RAB39B, RAD21, RAI1, RBM10, RIT1, RLIM, RNF113A, RPL10, RPS6KA3, SATB2, SCN1A, SCN2A, SCN8A, SETBP1, SETD5, SHANK3, SHROOM4, SLC16A2, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, SMC3, SMS, SOS1, SOX3, SRPX2, SSR4, ST3GAL3, STAG2, STXBP1, SYN1, SYNGAP1, SYP, TAF1, TBC1D24, TBL1XR1, TBR1, TCF4, THOC2, TIMM8A, TMLHE, TRAPPC9, TRIO, TSC1, TSC2, TSPAN7, TUSC3, UBE2A, UBE3A, UPF3B, USP27X, USP9X, VPS13B, WAC, WDR45, WT1, ZC4H2, ZDHHC15, ZDHHC9, ZEB2, ZMYM3, ZNF41, ZNF711, ZNF81  *Orthogonal confirmation is not available for AFF2, AFF3, DIP2B

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Enhanced Endocrinology Panel

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The Enhanced Endocrinology Panel is a clinical diagnostic genetic test designed to identify pathogenic variants in a panel of genes associated with genetic causes of endocrine disorders.

By using a whole genome sequencing platform methodology in conjunction with the Variantyx Genomic Intelligence® interpretation software, many more variants can be evaluated than is possible with standard gene panel tests. The Enhanced Endocrinology Panel test includes structural variants (SVs), which include small insertions and deletions (delins), deletions/duplications (del/dups) and larger copy number variants (CNVs), and single nucleotide variants (SNVs) or small sequence changes.

Key Features

The Enhanced Endocrinology Panel is an effective test to determine the genetic cause of endocrine disorders, including:

    • Familial high-density lipoprotein (HDL) deficiency
    • Hyperinsulinism
    • Diabetes
    • X-Linked Adrenoleukodystrophy
    • Metabolic disorders
    • Disorders of the adrenal system

Variantyx’s testing methodology provides the most comprehensive variant detection available

  • SNVs – Identifies and characterizes small sequence changes
  • SVs – Identifies del/dups, delins, and CNVs when they overlap with associated genes in this panel

Included DISORDERS

    • Adrenal hypoplasia congenita
    • Adrenoleukodystrophy
    • Bardet-Biedl syndrome
    • Glucocorticoid deficiency
    • Growth hormone deficiency
    • Familial hypocalciuric hypercalcemia
    • Hypercholesterolemia
    • Hyperparathyroidism
    • Hypophosphatemic rickets
    • Hypothyroidism and resistance to thyroid hormone
    • Inherited focal and segmental glomerulosclerosis
    • Kallmann syndrome
    • Liddle’s syndrome
    • Monogenic diabetes (MODY)
    • Nephrogenic diabetes insipidus
    • Premature ovarian failure
    • Pseudohypoaldosteronism type I

Test Characteristics

  • Clinical-grade whole genome sequencing is conducted on an Illumina platform using the Illumina TruSeq DNA PCR-Free Library Preparation Kit
  • WGS backbone displays highly uniform sequencing depth
    • 30X mean mappable coverage
    • >97% of nucleotides covered at ≥8x
    • >99% of HGMD and ClinVar annotated variants covered at ≥8x
  • Highly sensitive and specific detection of SNVs for endocrinology panel genes.
    • 99.934% sensitivity
    • >99.999% specificity
    • 99.928% positive predictive value for SNVs
  • Highly sensitive detection of structural variants
    • 96% clinical sensitivity for structural variants
    • In most cases, the exact genomic coordinates of the structural variant can be determined

Data Reporting

  • Variantyx’s testing methodology allows for an easy reflex from any of their targeted analyses to their Genomic Unity® Exome Plus Analysis without a need for a second patient sample.
  • Option of raw data transfer from clinical testing to be used for further research studies, if available.

Turn Around Time 8-10 weeks

How To Order

Associated Genes

ABCA1, ABCC8, ABCD1, ABCG5, ABCG8, ACAT1, ACSF3, ACTN4, ADCY3, AFF3, AGL, AIRE, ALDOA, ALDOB, ALMS1, AMH, AMHR2, ANOS1, AP2S1, APOA1, APOA5, APOB, APOC2, APOC3, APOE, AQP2, AR, ARL6, ARMC5, ARX, ATRX, AVPR2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BLK, BMP15, BSND, CASR, CCDC28B, CDC73, CDKN1A, CDKN1B, CDKN1C, CDKN2B, CDKN2C, CEL, CEP290, CEP41, CHD7, CLCNKB, CLDN16, CLDN19, CNNM2, CNNM4, COL1A1, COL1A2, CREB3L3, CREBBP, CUL4B, CYP11A1, CYP11B1, CYP17A1, CYP19A1, CYP21A2, DHCR7, DHH, DUOX2, DUOXA2, DUSP6, DYNC2H1, DYRK1B, EGF, EIF2AK3, ENO3, EPM2A, ERCC3, ETFA, ETFB, ETFDH, FBP1, FEZF1, FGF17, FGF23, FGF8, FGFR1, FIG4, FLRT3, FOXE1, FOXL2, FOXP3, FRAS1, FSHB, FSHR, FXYD2, G6PC, G6PC2, GAA, GALT, GATA4, GATA6, GBE1, GCK, GCM2, GH1, GHR, GLIS3, GLUD1, GNA11, GNAS, GNRH1, GNRHR, GPIHBP1, GYG1, GYS1, GYS2, HADH, HESX1, HMGCL, HMGCS2, HNF1A, HNF1B, HNF4A, HS6ST1, HSD11B2, HSD17B3, HSD3B2, IFT27, IGSF1, IL17RD, INF2, INS, INSR, IPF1, IRF6, KAL1, KCNA1, KCNJ10, KCNJ11, KISS1, KISS1R, KLF11, KRAS, KSR2, LAMB2, LAMP2, LDHA, LDLR, LDLRAP1, LEPR, LEPR, LHB, LHCGR, LIPA, LMF1, LMNA, LPL, LRP5, LZTFL1, MAGEL2, MAGT1, MAMLD1, MAP3K1, MC2R, MC3R, MEN1, MEN2, MKKS, MKRN3, MKS1, MPV17, MRAP, NEUROD1, NEUROG3, NF1, NHLRC1, NIPA2, NKX2-1, NKX2-2, NKX2-5, NNT, NOBOX, NPHS1, NPHS2, NPSH2, NR0B1, NR0B2, NR3C1, NR5A1, NROB1, NSMF, NTRK2, OXCT1, PAX4, PAX8, PC, PCBD1, PCK1, PCSK1, PCSK9, PDX1, PFKM, PGAM2, PGK1, PGM1, PHEX, PHF6, PHKA1, PHKA2, PHKB, PKD1, PKD2, PLCE1, POLG, POMC, PORCN, POU1F1, PPARG, PRKAG2, PRKAG3, PRKAR1A, PROK2, PROKR2, PROP1, PTF1A, PTH, PTPN11, PYGL, PYGM, RAF1, RBCK1, RET, RFX6, RSPO1, SARS2, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SDHB, SECISBP2, SEMA3A, SEMA3E, SHOX, SIM1, SLC12A3, SLC16A1, SLC16A2, SLC26A4, SLC2A2, SLC37A4, SLC5A5, SOS1, SOX9, SPRY4, SRD5A2, SRY, STAR, TAC3, TACR3, TCF1, TCF2, TG, THRA, THRB, TPO, TRIM32, TRPC6, TRPM6, TSHB, TSHR, TTC8, UCP2, UCP3, VHL, VPS13B, WDPCP, WDR11, WFS1, WT1, ZFP57, ZFPM2

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Enhanced Mitochondrial Panel

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The Enhanced Mitochondrial Panel is a clinical diagnostic genetic test designed to identify pathogenic variants in a panel of genes associated with mitochondrial diseases. Mitochondrial diseases are multisystem and can result in ptosis, ophthalmoplegia, proximal myopathy, cardiomyopathy, sensorineural deafness, optic atrophy, pigmentary retinopathy, diabetes mellitus, encephalopathy, seizures, dementia, migraine, stroke-like episodes, ataxia, and spasticity.

By using a whole genome sequencing platform methodology in conjunction with the Variantyx Genomic Intelligence® interpretation software, many more variants can be evaluated than is possible with standard gene panel tests. The Enhanced Mitochondrial Panel test includes structural variants (SVs), which include small insertions and deletions (delins), deletions/duplications (del/dups) and larger copy number variants (CNVs), single nucleotide variants (SNVs) or small sequence changes.

Key Features

The Enhanced Mitochondrial Panel is an effective test to determine the genetic cause of nuclear and mitochondrial genome diseases, including:

    • LHON, MERRF, MELAS, MIRAS
    • Leigh Disease
    • Disorders associated with Optic Atrophy
    • Disorders associated with Diabetes
    • POLG-related diseases
    • Muscle myopathy

Variantyx’s testing methodology provides the most comprehensive variant detection available

  • SNVs – Identifies and characterizes small sequence changes
  • SVs – Identifies del/dups, delins, and CNVs when they overlap with associated genes in this panel
  • Mitochondrial genome analysis with heteroplasmy (≥5%)

Included DISORDERS

    • Complex I deficiency
    • Complex II deficiency
    • Complex III deficiency
    • Complex IV deficiency
    • Complex V deficiency
    • CPT I deficiency
    • CPT II deficiency
    • Diabetes mellitus and deafness (DAD)
    • Leber’s hereditary optic neuropathy (LHON)
    • MELAS syndrome
    • Mitochondrial HMG-CoA synthase deficiency
    • Mitochondrial neurogastrointestinal encephalopathy (MNGIE)
    • Mitochondrial trifunctional protein deficiency
    • Myoclonic epilepsy with ragged red fibers (MERRF)
    • Neuropathy, ataxia, retinitis pigmentosis (NARP)

Test Characteristics

  • Clinical-grade whole genome sequencing is conducted on an Illumina platform using the Illumina TruSeq DNA PCR-Free Library Preparation Kit
  • WGS backbone displays highly uniform sequencing depth
    • 30X mean mappable coverage
    • >97% of nucleotides covered at ≥8x
    • >99% of HGMD and ClinVar annotated variants covered at ≥8x
  • Highly sensitive and specific detection of SNVs for mitochondria panel genes
    • 99.925% sensitivity
    • >99.999% specificity
    • 99.888% positive predictive value for SNVs
  • Highly sensitive detection of structural variants
    • 96% clinical sensitivity for structural variants
    • In most cases, the exact genomic coordinates of the structural variant can be determined

Data Reporting

  • Variantyx’s testing methodology allows for an easy reflex from any of their targeted analyses to their Genomic Unity® Exome Plus Analysis without a need for a second patient sample.
  • Option of raw data transfer from clinical testing to be used for further research studies, if available.

Turn Around Time 8-10 weeks

How To Order

Associated Genes

AARS2, ABCB6, ABCB7, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ACSF3, AFG3L2, AGK, AGL, AIFM1, AK2, ALAS2, ALDH18A1, ALDH2, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, AMACR, AMT, APTX, ATP5A1, ATP5E, ATP7B, ATP8B1, ATPAF2, ATXN2, AUH, BAX, BCKDHA, BCKDHB, BCKDK, BCL2, BCS1L, BOLA3, C12ORF65, C19ORF12, CA5A, CARS2, CAVIN1, CHCHD10, CISD2, CLPB, CLPP, COA5, COA6, COA8, COQ2, COQ4, COQ6, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX4I2, COX6A1, COX6B1, COX7B, CPT1A, CPT1C, CPT2, CYC1, CYCS, CYP11A1, CYP27A1, D2HGDH, DARS2, DBT, DDHD1, DECR1, DGMDH, DGUOK, DHODH, DHTKD1, DIABLO, DLAT, DLD, DNA2, DNAJC19, DNM1L, EARS2, ECHS1, ELAC2, ETFA, ETFB, ETFDH, ETHE1, FAH, FARS2, FASTKD2, FBXL4, FDX10, FH, FOXRED1, FXN, G6PC, GAA, GAMT, GATM, GBE1, GCDH, GCSH, GDAP1, GFER, GFM1, GFM2, GLDC, GLRX5, GLUD1, GPI, GPT2, GPX1, GRHPR, GSR, GSS, GTPBP3, GYS1, GYS2, HADHA, HADHB, HARS2, HAX1, HCCS, HK1, HMGCL, HMGCS2, HOGA1, HSD17B10, HSD3B2, HSPA9, HSPD1, HTRA2, IARS2, IBA57, IDH2, IDH3B, ISCA2, ISCU, IVD, KIF1B, L2HGDH, LARS2, LGHA, LIAS, LIPT1, LONP1, LRPPRC, LYRM4, LYRM7, MARS2, MCCC1, MCCC2, MCEE, MECR, MFF, MFN2, MGME1, MICU1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MPC1, MPV17, MRPL12, MRPL3, MRPL44, MRPS16, MRPS22, MRPS7, MSRB3, MTFMT, MTO1, MTPAP, NADK2, NAGS, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFA1, NFU1, NNT, NUBPL, OAT, OGDH, OGG1, OPA1, OPA3, OXCT1, PAM16, PANK2, PARS2, PC, PCCA, PCCB, PCK2, PDHA1, PDHB, PDHX, PDK3, PDSS1, PDSS2, PET100, PFKM, PGAM2, PHKA1, PHKA2, PHKB, PHKG2, PHYH, PINK1, PKLR, PNPLA8, PNPT1, POLG, POLG2, PPM1K, PRKAG2, PRODH, PRPS1, PTRH2, PUS1, PYCR1, PYCR2, PYGM, QARS1, RANBP2, RARS2, REEP1, RMND1, RNASEH1, RNASEL, RRM2B, SARDH, SARS2, SCO1, SCO2, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A38, SLC25A4, SLC25A46, SLC37A4, SLC6A8, SOD2, SPG7, STAR, SUCLA2, SUCLG1, SURF1, TACO1, TARS2, TAZ, TIMM44, TIMM8A, TK2, TMEM126A, TMEM70, TMLHE, TPI1, TPK1, TRIT1, TRMU, TRNT1, TSFN, TTC19, TUFM, TWNK, TXNRD2, TYMP, UNG, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, VARS2, WDR81, WFS1, XPNPEP3, YARS2, MT-ATP8, MT-ATP6, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV *Regions not fully covered: PRODH has low coverage

 

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