Our neuromuscular panel is ideal for patients with muscular diseases. It includes genes causing neurological diseases and covers disorders, such as metabolic myopathies, muscular dystrophies, Charcot- Marie-Tooth, congenital myasthenic syndromes, congenital myopathies, myofibrillar myopathies, nemaline myopathies, and other syndromes with hypotonia, myotonia, or weakness. Arthrogryposis is included for differential diagnosis of early-onset neuromuscular disorders. If there is high diagnostic suspicion for Duchenne muscular dystrophy, we recommend that the clinician orders deletion/duplication analysis by MLPA targeted to the DMD gene as an additional service.

4-5 weeks

NGS

EDTA Blood, DNA

No. of genes:355 AARS1, ABHD5, ACAD9, ACADM, ACADVL, ACTA1, ACTG2, ADGRG6, AGL, AGRN, AHCY, AIFM1, ALDOA, ALG14, ALG2, AMPD1, ANO5, ARHGEF9, ASAH1, ASCC1, ATAD1, ATL1, ATP2A1, ATP7A, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, BSCL2, BVES, CACNA1S, CAPN3, CASK, CASQ1, CAV1, CAV3, CCDC78, CFL2, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CLCN1, CNTNAP1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, COQ2, COX6A1, CPT2, CRLF1, CRPPA, CRYAB, CSRP3, CTDP1, DAG1, DCTN1, DES, DGUOK, DHCR24, DHTKD1, DMD, DMPK, DNA2, DNAJB2, DNAJB6, DNM2, DNMT1, DOK7, DPAGT1, DPM1, DPM2, DPM3, DYNC1H1, DYSF, ECEL1, EGR2, ELP1, EMD, ENO3, ERCC5, ERCC6, ETFA, ETFB, ETFDH, EXOSC3, EXOSC8, FBLN5, FBN2, FBXO38, FDX2, FGD4, FHL1, FIG4, FKBP10, FKBP14, FKRP, FKTN, FLAD1, FLNC, GAA, GAN, GARS1, GBA, GBE1, GDAP1, GFPT1, GJB1, GLDN, GLE1, GLRA1, GLRB, GMPPB, GNB4, GNE, GPHN, GYG1, GYS1, HADHA, HADHB, HINT1, HK1, HNRNPDL, HOXD10, HRAS, HSPB1, HSPB3, HSPB8, HSPG2, IGHMBP2, INF2, ISCU, ITGA7, KARS1, KAT6B, KBTBD13, KCNA1, KCNE3, KCNJ2, KIF1A, KIF1B, KIF5A, KLHL40, KLHL41, KLHL7, KY, LAMA2, LAMB2, LAMP2, LARGE1, LDB3, LDHA, LGI4, LIMS2, LITAF, LMNA, LMOD3, LPIN1, LRP4, LRSAM1, MAGEL2, MAMLD1, MARS1, MATR3, MED25, MEGF10, MFN2, MICU1, MOCS1, MPV17, MPZ, 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-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, MT-TW, MT-TY, MTM1, MTMR14, MTMR2, MUSK, MYBPC1, MYBPC3, MYH2, MYH3, MYH7, MYH8, MYL1, MYL2, MYMK, MYO18B, MYO9A, MYOT, MYPN, NALCN, NDRG1, NEB, NTRK1, OPA1, OPA3, PAX7, PDK3, PFKM, PGAM2, PGK1, PGM1, PHKA1, PIEZO2, PIP5K1C, PLEC, PLEKHG5, PLOD2, PMM2, PMP22, PNPLA2, POGLUT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PREPL, PRKAG2, PRPS1, PRX, PYGM, PYROXD1, QARS1, RAB7A, RAPSN, RBCK1, REEP1, RETREG1, RRM2B, RXYLT1, RYR1, SBF1, SBF2, SCN4A, SELENON, SGCA, SGCB, SGCD, SGCE, SGCG, SH3TC2, SIL1, SLC12A6, SLC16A1, SLC18A3, SLC22A5, SLC25A1, SLC25A20, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SLC6A5, SMCHD1, SMN1, SMN2, SMPD4, SPEG, SPG11, SPTBN4, SPTLC1, SPTLC2, STAC3, STIM1, SUCLA2, SUN2, SYNE1, SYNE2, SYT2, TAFAZZIN, TANGO2, TBCK, TCAP, TFG, TGFB3, TIA1, TK2, TMEM43, TNNI2, TNNT1, TNNT3, TNPO3, TOR1A, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM2, TRIM32, TRIP4, TRPV4, TSEN2, TSFM, TTN, TWNK, TYMP, UBA1, VAMP1, VAPB, VCP, VIPAS39, VMA21, VPS33B, VRK1, WNK1, XK, YARS1, ZC4H2

Ophthalmology panel is carefully designed to find the genetic basis of eye diseases, including those that are the leading causes of blindness among infants (Leber congenital amaurosis), children (early-onset retinitis pigmentosa), and adults (pattern dystrophy). Our panel includes the most common ophthalmology diseases, such as congenital glaucoma, retinitis pigmentosa, Stargardt disease, Stickler syndrome, achromatopsia, and Usher syndrome, among others. It also screens for different types of albinism (oculocutaneous and ocular) as well as Hermasky-Pudlak syndrome.

4-5 weeks

NGS

EDTA Blood, DNA

No. of genes:450 ABCA4, ABCB6, ABHD12, ACO2, ACVR1, ADAM9, ADAMTS18, ADAMTSL4, ADGRV1, AFG3L2, AGBL5, AGK, AHI1, AIPL1, ALDH18A1, ALDH1A3, AP3B1, APTX, ARHGEF18, ARL13B, ARL2BP, ARL6, ARSG, ASB10, ATF6, ATOH7, AUH, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BEST1, BFSP1, BFSP2, BLOC1S3, BLOC1S6, BMP4, C1QTNF5, C2CD3, CA4, CABP4, CACNA1F, CACNA2D4, CANT1, CAPN5, CC2D2A, CCDC28B, CDH23, CDH3, CDHR1, CEP104, CEP120, CEP164, CEP290, CEP41, CERKL, CFAP418, CHD7, CHM, CHMP4B, CIB2, CISD2, CLCN7, CLN3, CLN5, CLN6, CLN8, CLPB, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL2A1, COL4A1, COL9A1, COL9A2, COL9A3, COX7B, CPLANE1, CRB1, CRX, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CSPP1, CTC1, CTDP1, CTNNA1, CTNNB1, CTSD, CWC27, CYP1B1, CYP27A1, CYP4V2, DGUOK, DHDDS, DHX38, DKC1, DNA2, DNAJC19, DNM1L, DRAM2, DTNBP1, EDN3, EDNRB, EFEMP1, ELOVL4, ENPP1, EPHA2, ERCC1, ERCC2, ERCC5, ERCC6, ERCC8, EYA1, EYS, FAM126A, FAM161A, FDXR, FLVCR1, FOXC1, FOXL2, FRAS1, FREM1, FREM2, FSCN2, FTL, FYCO1, FZD4, GALE, GALK1, GALT, GBA, GCNT2, GDF3, GDF6, GJA1, GJA3, GJA8, GNAT2, GNPTG, GPR143, GRIP1, GRN, GUCA1A, GUCA1B, GUCY2D, HARS1, HCCS, HESX1, HEXA, HGSNAT, HK1, HMX1, HPS1, HPS3, HPS4, HPS5, HPS6, HSF4, HTRA2, IDH3B, IFT140, IFT172, IFT27, IMPDH1, IMPG1, IMPG2, INPP5E, IQCB1, KATNIP, KCNJ13, KCNV2, KIAA0586, KIF11, KIF7, KIT, KLHL7, LCA5, LEMD2, LEP, LEPR, LIM2, LMX1B, LOXL1, LRAT, LRMDA, LRP2, LRP5, LSS, LTBP2, LYST, LZTFL1, MAB21L2, MAF, MAK, MC1R, MECR, MERTK, MFN2, MFRP, MFSD8, MIP, MITF, MKKS, MKS1, MLPH, 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-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, MT-TW, MT-TY, MTRFR, MYH9, MYO5A, MYO7A, MYOC, NAA10, NDP, NF2, NHS, NMNAT1, NPHP1, NPHP3, NPHP4, NR0B2, NR2F1, NRL, NTF4, OCA2, OCRL, OFD1, OPA1, OPA3, OPN1LW, OPTN, OSTM1, OTX2, P3H2, PAX2, PAX3, PAX6, PCARE, PCDH15, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDZD7, PEX1, PEX2, PEX7, PHF6, PHYH, PIK3R5, PITPNM3, PITX2, PITX3, PLA2G5, PNKP, PNPLA6, POC1B, POLG, POLG2, POMC, POMGNT1, PPARG, PPT1, PQBP1, PRCD, PRKCG, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, PRSS56, PXDN, RAB18, RAB27A, RAB28, RAB3GAP1, RAB3GAP2, RARB, RAX, RAX2, RBP3, RBP4, RD3, RDH12, RDH5, REEP6, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RRM2B, RS1, RTN4IP1, SAG, SBF2, SDCCAG8, SEMA4A, SERAC1, SETX, SHH, SIL1, SIX3, SIX6, SLC16A12, SLC24A5, SLC25A4, SLC25A46, SLC33A1, SLC38A8, SLC45A2, SLC52A2, SLC7A14, SLC9A6, SMCHD1, SMOC1, SNAI2, SNRNP200, SNX10, SOX10, SOX2, SPATA7, SPG7, STRA6, TBC1D20, TBK1, TCIRG1, TCTN1, TCTN2, TCTN3, TDRD7, TEK, TENM3, TFAP2A, TIMM50, TIMM8A, TIMP3, TK2, TMEM107, TMEM126A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TMEM70, TNFRSF11A, TNFSF11, TOPORS, TPP1, TRAF3IP1, TRIM32, TRNT1, TSPAN12, TTC21B, TTC8, TTLL5, TTPA, TULP1, TWNK, TYMP, TYR, TYRP1, USH1C, USH1G, USH2A, VCAN, VIM, VPS13B, VSX2, WDPCP, WDR19, WDR36, WFS1, WHRN, WRN, ZIC2, ZNF408, ZNF423, ZNF513

Hearing loss is a common condition in children, affecting 1 in 100 live births. In more than 50% of the cases, there is a genetic cause for this disorder, from which 70% cause non-syndromic hearing loss. Hearing Loss Panel includes genes associated with syndromic and non-syndromic hearing loss. Both autosomal recessive and dominant cases are included in the panel. In addition, Hearing Loss Panel includes syndromes, such as Alport, Pendred, Waardenburg, Usher, and branchio-oto-renal among others.

4-5 weeks

NGS

EDTA Blood, DNA

No. of genes:233 ABHD12, ACTB, ACTG1, ADCY1, ADGRV1, AIFM1, ANKH, ATP2B2, ATP6V1B1, ATP6V1B2, BCS1L, BDP1, BSND, BTD, CABP2, CACNA1D, CCDC50, CD151, CD164, CDC14A, CDH23, CDKN1C, CEACAM16, CEP78, CHD7, CHSY1, CIB2, CISD2, CLDN14, CLIC5, CLPP, CLRN1, COCH, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, CRYM, DCAF17, DCDC2, DIABLO, DIAPH1, DIAPH3, DLX5, DMXL2, DNMT1, DSPP, EDN3, EDNRB, ELMOD3, EPS8, EPS8L2, ESPN, ESRP1, ESRRB, EYA1, EYA4, FDXR, FGF3, FGFR1, FGFR2, FGFR3, FOXI1, GAB1, GATA3, GIPC3, GJA1, GJB2, GJB3, GJB6, GPRASP2, GPSM2, GRHL2, GRXCR1, GRXCR2, GSDME, HARS1, HARS2, HGF, HOMER2, HOXB1, HSD17B4, ILDR1, KARS1, KCNE1, KCNJ10, KCNQ1, KCNQ4, KIT, KITLG, LARS2, LHFPL5, LOXHD1, LRP2, LRTOMT, MAN2B1, MANBA, MARVELD2, MCM2, MET, MGP, MITF, MPZL2, MSRB3, 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-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, MT-TW, MT-TY, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NARS2, NDP, NLRP3, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PDZD7, PEX1, PEX26, PEX6, PJVK, PMP22, PNPT1, POLR1C, POLR1D, POU3F4, POU4F3, PRPS1, RDX, RMND1, ROR1, RPS6KA3, S1PR2, SALL1, SALL4, SEMA3E, SERPINB6, SIX1, SIX5, SLC12A1, SLC17A8, SLC19A2, SLC26A4, SLC26A5, SLC29A3, SLC33A1, SLC44A4, SLC52A2, SLC52A3, SLITRK6, SMAD4, SMPX, SNAI2, SOX10, SOX2, SPATA5, STRC, SUCLA2, SUCLG1, SYNE4, TBC1D24, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMC1, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TRMU, TSPEAR, TWNK, TYR, USH1C, USH1G, USH2A, VCAN, WBP2, WFS1, WHRN

Includes the most relevant genes for arrhythmias, congenital heart disease, and cardiomyopathies. Syndromes included: Long and short QT, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, cardiomyopathies dilated and hypertrophic, and congenital heart defects. In addition, this panel includes vascular abnormalities, such as dolichoectasia and hereditary hemorragic telangiectasia.

4-5 weeks

NGS

EDTA Blood ,DNA

327

ABCC9, ACTA1, ACTA2, ACTC1, ACTN2, ACVR2B, ACVRL1, ADAMTS10, ADAMTS19, AGL, AKAP9, ALPK3, ANK2, ANKRD1, ANKS6, ARHGAP31, ATM, B3GAT3, BAG3, BCOR, BMPR2, BRAF, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CAVIN4, CBL, CCDC103, CCDC39, CCDC40, CDH2, CFAP298, CFAP300, CFAP53, CHD7, CITED2, CLDN16, CLDN19, CNNM2, COL1A1, COL1A2, COL3A1, COL4A1, COL4A2, COL5A1, COL5A2, COX15, CPT2, CREBBP, CRELD1, CRYAB, CSRP3, CTNNA3, DES, DLL4, DMD, DNAAF1, DNAAF11, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJC19, DNAL1, DOLK, DPP6, DSC2, DSG2, DSP, DTNA, EFEMP2, EGF, EHMT1, ELAC2, ELN, EMD, ENG, EOGT, EP300, EVC, EVC2, EYA4, FBN1, FBN2, FHL1, FKRP, FKTN, FLNA, FLNC, FOXC1, FOXF1, FOXH1, FOXJ1, FXYD2, GAA, GAS8, GATA4, GATA5, GATA6, GDF1, GDF2, GJA1, GJA5, GLA, GNB5, GPC3, GPD1L, HADHA, HAND1, HCCS, HCN4, HFE, HRAS, HTRA1, ILK, JAG1, JPH2, JUP, KANSL1, KCNA1, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK3, KCNQ1, KDM6A, KLF10, KMT2D, KRAS, LAMA2, LAMA4, LAMP2, LDB3, LDLR, LDLRAP1, LEFTY2, LMNA, LRRC56, LZTR1, MAP2K1, MAP2K2, MED12, MED13L, MEIS2, MFAP5, MGP, MIB1, MMP15, MMP21, MMP3, MRAS, 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-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, MT-TW, MT-TY, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYL4, MYLK, MYLK2, MYO6, MYOM1, MYOZ2, MYPN, NEBL, NEXN, NF1, NIPBL, NKX2-5, NKX2-6, NME8, NODAL, NOTCH1, NOTCH2, NOTCH3, NPPA, NR2F2, NRAS, NSD1, ODAD1, ODAD2, ODAD3, ODAD4, PDLIM3, PKD1L1, PKD2, PKP2, PLN, PPP1CB, PRDM16, PRKAG2, PRKAR1A, PRKG1, PSEN1, PSEN2, PTPN11, RAF1, RANGRF, RARB, RASA1, RBM10, RBM20, RIT1, ROBO4, RYR1, RYR2, SALL1, SALL4, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SDHA, SELENON, SEMA3A, SGCD, SGCG, SHOC2, SKI, SLC12A3, SLC22A5, SLC25A4, SLC2A10, SLMAP, SMAD3, SMAD4, SMAD6, SMC3, SNTA1, SOS1, SOS2, SOX2, SPAG1, STRA6, SYNE1, SYNE2, TAB2, TAFAZZIN, TBX1, TBX20, TBX3, TBX5, TCAP, TECRL, TFAP2B, TGFB2, TGFB3, TGFBR1, TGFBR2, TLL1, TMEM43, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TREX1, TRIM63, TRPM4, TRPM6, TTC12, TTN, TTR, VCL, ZEB2, ZFPM2, ZIC3, ZMYND10