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

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