073-2126155
מובילה בדיאגנוסטיקה מולקולרית

בדיקות גנטיות

במעבדת פרונטו דיאגנוסטיקה ניתן לבצע את כל הבדיקות הגנטיות:

  • בדיקת כל גן.
  • שימוש בטכנולוגיה מתקדמת לאיתור חוסרים והכפלות.
  • בדיקות פארמקוגנטיות: התאמה אישית של טיפול תרופתי לפרופיל הגנטי של המטופל.
  • שירותי ריצוף בטכנולוגיית הדור הבא (Next Generation Sequencing) לטיפול במקרים של תסמונות גנטיות מורכבות.
  • אונקוגנטיקה- זיהוי ואיתור גנים ומוטציות האחראים לסרטן כגון: סרטן השד, סרטן המעי הגס ועוד.

המעבדה הדיאגנוסטית- קלינית של חברת פרונטו דיאגנוסטיקה הינה מאושרת על ידי משרד הבריאות הישראלי, כמו גם בעלת תו התקן האירופאי ISO 9001:2015.

 

Comments are closed.

Loading...
Type Name / Description Gene Technology Tat Price
NGS Gene Panel Abnormal Genitalia/ Disorders of Sex Development AMH, AMHR2, ANOS1, AR, ARX, ATRX, BCOR, CDK9*, CDKN1C, CEP41, CHD7, CREBBP, CYB5A, CYP11A1, CYP11B1, CYP17A1*, CYP19A1, CYP21A2, DHCR7, DHH, DYNC2H1, ERCC3, FEZF*, FGF8, FGFR1, FIG4, FRAS1, GATA4, GNRH1, GNRHR, HSD17B3, HSD3B2, IL17RD*, IRF6, KISS1, KISS1R, LHB, LHCGR, MAMLD1, MAP3K1, MKRN3*, MKS1, NR0B1, NR5A1, POR, PROK2, PROKR2, RSPO1, SAMD9, SGPL1*, SOX10, SOX9, SRD5A2, SRY, STAR, TAC3, TACR3, TOE1*, TSPYL1, WDR11, WT1, ZFPM2 TWIST or CES 8 Weeks
NGS Gene Panel ALS ALS2, ANG, ATL1, BSCL2, CHCHD10, CHMP2B, DCTN1, FIG4, FUS, GBE1, GRN, HEXA, HNRNPA1, HSPD1, WASHC5, KIF5A, MATR3, OPTN, PFN1, PRF1, REEP1, SETX, SLC52A2, SLC52A3, SOD1, SPAST, SPG11, SPART, SQSTM1, TARDBP, TIA1, TUBA4A, UBQLN2, VAPB, VCP, TWIST 8 Weeks
NGS Gene Panel Adams-Oliver Syndrome ARHGAP31, DLL4, DOCK6, EOGT, KCTD1, NOTCH1, RBPJ, UBR1 TWIST 8 Weeks
NGS Gene Panel Albinism AP3B1, BLOC1S3, BLOC1S6, DTNBP1, EDN3, EDNRB, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, KIT, LRMDA, LYST, MC1R, MITF, MLPH, MYO5A, OCA2, PAX3, RAB27A, SLC24A5, SLC38A8 , SLC45A2, SNAI2, SOX10, TYR, TYRP1, TWIST or CES 8 Weeks
NGS Gene Panel Anemia ABCB7, ADAMTS13, AK1, ALAS2, AMN, ANK1, ATM, ATR, ATRX, BLM, BRCA2, BRIP1, C15ORF41, CDAN1, CLCN7, CUBN, CYB5R3, DHFR, DNAJC21, DNASE2, EFL1, EPB42, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, G6PD, GATA1, GCLC, GPI, GSS, HBA1, HBA2, HBB, HFE, KIF23, KLF1, LPIN2, MTR, NBN, NT5C3A, PALB2, PC, PDHA1, PDHX, PIEZO1, PKLR, PUS1, RAD51C, REN, RHAG, RPL11, RPL15, RPL27, RPL31, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS28, RPS29, RPS7, SBDS, SEC23B, SLC11A2, SLC19A2, SLC25A38, SLC4A1, SLX4, SPTA1, SPTB, SRP54, TCN2, TF, THBD, TMPRSS6, TPI1, XRCC2, YARS2 TWIST 8 Weeks
NGS Gene Panel Aorta ABCC6, ABL1, ACTA2, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTSL4, ALDH18A1, ATP7A, B3GAT3*, BGN, CBS, COL1A1, COL1A2, COL2A1, COL3A1, COL4A5, COL5A1, COL5A2, COLGALT1*, EFEMP2, ELN, ENPP1, FBLN5, FBN1, FBN2, FKBP14, FLNA, FOXE3, GATA5, HCN4, LOX, MAT2A*, MED12, MFAP5*, MYH11, MYLK, NOTCH1, PLOD1, PRKG1*, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, TGFB2, TGFB3, TGFBR1, TGFBR2, ZDHHC9 TWIST or CES 8 Weeks
NGS Gene Panel Aortopathy ACTA2 , CBS , COL3A1, COL5A1, COL5A2 , EFEMP2 , FBN1 , FBN2 , FLNA, FOXE3, LOX, MED12, MYH11 , MYLK , NOTCH1, PLOD1, PLOD3 PRKG1, SKI, SLC2A10 , SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2 , TWIST or CES 8 Weeks
NGS Gene Panel Arrhythmia ABCC9, ACTN2, AKAP9, ANK2, BAG3, CACNA1C, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CDH2, CTNNA3, DBH, DES, DSC2, DSG2, DSP, EMD, FLNC, GATA6, GPD1L, HADHA, HCN4, JUP, KCNA5, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, LDB3, LEMD2, LMNA, MYH6, MYH7, MYL4, NKX2-5, NOS1AP, NUP155, PKP2, PLN, PPA2, PRKAG2, RBM20, RYR2, SALL4, SCN10A, SCN1B, SCN3B, SCN5A, TBX5, TECRL, TGFB3, TMEM43, TNNI3, TNNI3K, TNNT2, TRDN, TRPM4, TTN TWIST 8 Weeks
NGS Gene Panel Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) ACTN2, BAG3, CDH2, CTNNA3, DES, DSC2, DSG2, DSP, EMD, FLNC, JUP, LDB3, LEMD2, LMNA, MYH7, NKX2-5, PKP2, PLN, PRKAG2, RBM20, RYR2, SCN5A, TGFB3, TMEM43, TNNI3, TNNT2, TTN TWIST 8 Weeks
NGS Gene Panel Arthrogryposis ACTA1, ADGRG6, AGRN, BIN1, CACNA1E, CASK, CFL2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CHUK, CNTNAP1, COL6A2, COLQ, DHCR24, DOK7, DPAGT1, ECEL1, EGR2, ERBB3, ERCC5, ERCC6, EXOSC3, FBN2, FHL1, FKBP10, FKTN, FLVCR2, GBA, GBE1, GFPT1, GLDN, GLE1, KAT6B, KIAA1109, KLHL40, LGI4, LMNA, MPZ, MTM1, MUSK, MYBPC1, MYH2, MYH3, MYH8, NALCN, NEB, PIEZO2, PLOD2, PMM2, PPP3CA, RAPSN, RARS2, RIPK4, SCO2, SELENON, SMN1, SMN2, TGFB3, TK2, TNNI2, TNNT1, TNNT3, TPM2, TPM3, TRPV4, TSEN2, TSEN54, UBA1, VIPAS39, VPS33B, VRK1, ZBTB42, ZC4H2 TWIST 8 Weeks
NGS Gene Panel Ataxia ABCB7, ABHD12, ACO2, ADCK3, ADPRHL2, AFG3L2, AGTPBP1, AHI1, ALDH5A1, ANO10, APTX, ARL13B, ARL6, ATCAY, ATM, ATP1A3, ATP2B3, ATP8A2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEAN1, C10ORF2, C12ORF4, C5ORF42, CA8, CACNA1A, CACNA1G, CACNB4, CAMTA1, CAPN1, CASK, CC2D2A, CCDC88C, CEP290, CEP41, CLCN2, CLN5, CLPP, COA7, COASY, COX20, CP, CSTB, CWF19L1, CYP27A1, CYP2U1, DHPS, DNAJC19, DNMT1, DOCK3, EBF3, EEF2, ELOVL4, ELOVL5, FA2H, FBXL4, FDXR, FGF14, FLVCR1, FMR1, FXN, GBA2, GFAP, GOSR2, GRID2, GRM1, GSS, HARS2, HIBCH, INPP5E, IRF2BPL, ITM2B, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, KIF1C, KIF7, LAMA1, LARS2, LMNB1, LRPPRC, MARS2, MECR, MKKS, MKS1, MME, MRE11A, MSTO1, MTFMT, MTPAP, MTTP, NDUFAF6, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NKX6-2, NOL3, NPHP1, NUBPL, OFD1, OPA1, OPHN1, PAX6, PDYN, PEX7, PHYH, PNKD, PNKP, PNPLA6, POLG, PRKCG, PRRT2, PUM1, RNF216, RPGRIP1L, RUBCN, SACS, SCYL1, SERAC1, SETX, SIL1, SLC1A3, SLC20A2, SLC25A46, SLC2A1, SLC52A2, SLC9A1, SLC9A6, SNX14, SPG7, SPTBN2, STUB1, SYNE1, SYT14, TCTN1, TCTN2, TCTN3, TDP1, TGM6, TMEM138, TMEM216, TMEM231, TMEM237, TMEM240, TMEM67, TPP1, TRIM32, TTBK2, TTC19, TTC8, TTPA, TUBB4A, UBA5, UBTF, UCHL1, VAMP1, VLDLR, WDPCP, WDR81, WFS1, WWOX, ZFYVE26, ZNF423 TWIST 8 Weeks
NGS Gene Panel Atypical Hemolytic uremic syndrome (aHUS) ADAMTS13, APLN, C3, CD46, CD59, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR5, CFI, CR1, CR2, DGKE, INF2, MMACHC, MMUT, PIGA, PLG, THBD, CFHR4 TWIST 8 Weeks
NGS Gene Panel Autoimmunity ACP5, ADA2*, ADAR, AICDA, AIRE, AP3B1, BLOC1S6, BTK, CASP10, CASP8, CD27, CD40LG, CR2, CTLA4, CYBA, CYBB, DOCK8, FADD, FAS, FASLG, FOXP3, ICOS, IFIH1, IL10, IL10RA, IL10RB, IL21*, IL21R, IL2RA, ITCH, ITK, LRBA, LYST, MAGT1, NCF2, NCF4, NFAT5*, NFKB2, NFKBIA, ORAI1, PIK3CD, PIK3R1, PLCG2, PNP, PRF1, PRKCD*, RAB27A, RAC2, RFX5, RFXANK, RFXAP, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SH2D1A, SLC7A7, STAT1, STAT3, STAT5B, STIM1, STX11, STXBP2, TBX1, TMEM173, TNFRSF13B, TNFRSF13C, TNFSF12*, TPP2*, TREX1, UNC13D, UNG, WAS, XIAP TWIST or CES 8 Weeks
NGS Gene Panel Autoinflammatory Syndrome ACP5, ADA, ADA2, ADAM17, ADAR, AICDA, AP1S3, ASAH1, BTK, CARD14, CD3G, CD40LG, COPA, CTLA4, CYBA, CYBB, DCLRE1C, DDX58, DKC1, DOCK8, ELANE, FOXP3, G6PC3, HAX1, ICOS, IFIH1, IL10, IL10RA, IL10RB, IL1RN, IL21, IL2RA, IL2RG, IL36RN, ISG15, ITGB2, LIG4, LPIN2, LRBA, MEFV, MVK, NCF2, NCF4, NFAT5, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, OTULIN, PIK3CD, PIK3R1, PLCG2, PRG4, PSENEN, PSMB8, PSTPIP1, RAG1, RAG2, RBCK1, RNASEH2A, RNASEH2B, RNASEH2C, RTEL1, SAMHD1, SH2D1A, SH3BP2, SLC29A3, SLC37A4, STAT1, STAT3, STIM1, STXBP2, TMEM173, TNFAIP3, TNFRSF11A, TNFRSF1A, TREX1, TRNT1, TTC7A, WAS, XIAP, ZAP70 TWIST 8 Weeks
NGS Gene Panel Bartter Syndrome AP2S1*, ATP6V1B1, BSND, CA2, CASR, CLCNKA, CLCNKB, CLDN16, CLDN19, FXYD2, GNA11*, HNF1B, HSD11B2, KCNJ1, KCNJ10, KLHL3, MAGED2*, NR3C2, SCNN1A, SCNN1B, SCNN1G, SLC12A1, SLC12A2*, SLC12A3, SLC4A1, SLC4A4, WNK1, WNK4 TWIST or CES 8 Weeks
NGS Gene Panel Bone Marrow Failure ACD, ACTB, AK2, ANKRD26, AP3B1, ATM, ATR, BLM, BLOC1S3, BLOC1S6, BRAF, BRCA1, BRCA2, BRIP1, CBL, CDKN2A, CEBPA, CLPB, CSF2RA, CSF3R, CTC1, CTSC, CXCR4, DDX41, DKC1, DNAJC21, DNASE2, DTNBP1, EFL1, ELANE, EPCAM, ERCC4, ERCC6L2, ETV6, FADD, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, G6PC3, GATA1, GATA2, GFI1, GINS1, HAX1, HPS1, HPS3, HPS4, HPS5, HPS6, HRAS, IFNGR2, IKZF1, ITK, JAGN1, KRAS, LAMTOR2, LYST, MAGT1, MAP2K1, MAP2K2, MKL1, MLH1, MPL, MSH2, MSH6, MYO5A, NBN, NF1, NHP2, NOP10, NRAS, PALB2, PAX5, PGM3, PMS2, PRF1, PTPN11, RAB27A, RAC2, RAD51C, RBM8A, RECQL4, RIT1, RPL11, RPL15, RPL26, RPL27, RPL31, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS28, RPS29, RPS7, RTEL1, RUNX1, SAMD9, SAMD9L, SBDS, SH2D1A, SLC37A4, SLX4, SMARCD2, SOS1, SRP54, SRP72, STX11, STXBP2, TERT, THPO, TINF2, TP53, UBE2T, UNC13D, USB1, VPS13B, VPS45, WAS, WDR1, WIPF1, WRAP53, XIAP, XRCC2 TWIST 8 Weeks
NGS Gene Panel Brugada CACNA1C, CACNB2, HCN4, KCNH2, SCN3B, SCN5A, TRPM4 CES 8 Weeks
NGS Gene Panel C3 glomerulopathy C3, CD46, CFB, CFH, CFHR1, CFHR5, CFI, DGKE TWIST 8 Weeks
NGS Gene Panel Cadasil ABCC6, ABO, ACTA2, ADA2*, CACNA1A, COL3A1, COL4A1, COL4A2, CTSA, FBN1, GLA, HDAC9, HTRA1, MMADHC, MTHFR, MTR, MTRR, NINJ2*, NOTCH3, PITX2, TREX1, ZFHX3 TWIST or CES 8 Weeks
NGS Gene Panel CAKUT ACE, ACTA2, ACTG2, AGT, AGTR1, ANOS1, BICC1, BMP4, BMP7, BSND, CDC5L, CHD1L, CHD7, DSTYK, EYA1, CCNQ (FAM58A), FANCB, FAT4, FGF20, FGFR2, FOXC2, FOXP1, FRAS1, FREM1, FREM2, GATA3, GLI2, GLI3, GREB1L, GRIP1, HAAO, HNF1B, HOXA13, HOXA4, HOXB6, HPSE2, ITGA8, KYNU, LIFR, LRIG2, LRP4, MUC1, NIPBL, NPHP3, NRIP1, PAX2, PBX1, PUF60, REN, RET, ROBO1, ROBO2, RPGRIP1L, RRM2B, SALL1, SIX1, SIX2, SIX5, SLIT2, SOX11, SOX17, SRGAP1, TBC1D1, TBX18, TRAP1, UMOD, UPK3A, VPS33B, VWA2, WNT4, WT1 TWIST 8 Weeks
NGS Gene Panel Cancer - Comprehensive AIP, ALK, APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CHEK2, DICER1, DIS3L2, EGFR, EPCAM, FH, FLCN, GATA2, GPC3, GREM1, HOXB13, HRAS, KIT, MAX, MEN1, MET, MITF, MLH1, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PHOX2B, PMS2, POLD1, PRKAR1A, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RB1, RECQL4, RET, RUNX1, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, STK11, SUFU, TERC, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WRN, WT1, IDH1, IDH2, FOXL2 CES 8 Weeks
NGS Gene Panel Cardiomyopathy AARS2, ABCC6, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, ALMS1, ALPK3, ANO5, APOA1, BAG3, BRAF, CALR3, CAPN3, CASQ2, CBL, CDH2, COX15, CPT2, CRYAB, CSRP3, CTNNA3, DBH, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, DTNA, DYSF, EEF1A2, ELAC2, EMD, EPG5, ETFA, ETFB, ETFDH, FBXO32, FHL1, FKRP, FKTN, FLNC, FOXD4, FOXRED1, FXN, GAA, GATA6, GATAD1, GBE1, GFM1, GLA, GLB1, GMPPB, GTPBP3, GUSB, HADHA, HAND1, HCN4, HFE, HRAS, ISPD, JPH2, JUP, KRAS, LAMA2, LAMP2, LARGE, LDB3, LMNA, LRRC10, LZTR1, MAP2K1, MAP2K2, MLYCD, MTO1, MYBPC3, MYBPHL, MYH6, MYH7, MYL2, MYL3, MYL4, MYOT, MYPN, NDUFAF2, NEXN, NF1, NRAS, PCCA, PCCB, PKP2, PLEC, PLEKHM2, PLN, PNPLA2, PPA2, PPP1CB, PRDM16, PRKAG2, PTPN11, RAF1, RASA2, RBCK1, RBM20, RIT1, RMND1, RRAS, RYR2, SCN5A, SCNN1B, SCNN1G, SCO2, SDHA, SELENON, SGCA, SGCB, SGCD, SGCG, SHOC2, SLC22A5, SLC25A20, SLC25A4, SMCHD1, SOS1, SOS2, SPEG, SPRED1, TAB2, TAZ, TBX20, TBX5, TCAP, TGFB3, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TOR1AIP1, TPM1, TRIM32, TSFM, TTN, TTR, VCL, VCP, VPS13A, XK TWIST 8 Weeks
NGS Gene Panel Cataract ABCB6, ADAMTS18, ADAMTSL4, AGK, ALDH18A1, BCOR, BFSP1, BFSP2, CHMP4B, COL11A1, COL18A1, COL2A1, COL4A1, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CRYGS, CTDP1, CYP27A1, EPHA2, ERCC2, ERCC5, ERCC6, ERCC8, EYA1, FAM126A, FOXE3, FTL*, FYCO1, FZD4, GALE, GALK1, GALT, GCNT2, GJA1*, GJA3, GJA8, HSF4, LIM2, MAF, MIP, MYH9, NDP, NF2, NHS, OCRL, OPA3, P3H2, PAX6, PITX3, PXDN, RAB3GAP1, RECQL4, SIL1, SLC16A12, SLC33A1, TDRD7, TFAP2A, TMEM70, VIM, VSX2, WFS1, WRN TWIST or CES 8 Weeks
NGS Gene Panel Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) ANK2, CALM1, CALM2, CALM3, CASQ2, KCNJ2, LMNA, RYR2, TECRL, TRDN TWIST 8 Weeks
NGS Gene Panel Cerebellar Ataxia APTX, COQ2, COQ8A, COQ9, DNMT1, FXN, PDSS1, PDSS2, POLG, SACS, SETX, SLC2A1, SPG7, SYNE1, TTPA, VLDLR TWIST 8 Weeks
NGS Gene Panel Cholestasis ABCB11, ABCB4, ABCC2, AKR1D1, ATP8B1, BAAT, CFTR, CREB3L3, CYP7B1, DCDC2, DGUOK, EPCAM, FAH, HSD3B7, JAG1, LCT, LMF1, MKS1, MYO5B, NEUROG3, NOTCH2, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NR1H4, PEX1, PEX10, PEX12, PEX2, PEX26, PEX5, PEX6, SCYL1, SERPINA1, SLC25A13, SLC26A3, SMPD1, SPINT2, TJP2, TMEM216, TRMU, TTC37, UGT1A1, VIPAS39, VPS33B TWIST or CES 8 Weeks
NGS Gene Panel Chronic Progressive External Ophthalmoplegia (CPEO) DGUOK, DNA2*, MGME1*, OPA1, POLG, POLG2, RNASEH1*, RRM2B, SLC25A4, SPG7, TK2, TWNK*, TYMP TWIST or CES 8 Weeks
NGS Gene Panel CMT- Comprehensive SEPTIN9, AARS, AGTPBP1, AIFM1, AMACR, ARHGEF10, ATAD3A, ATL1, ATL3, ATP1A1, ATP7A, BAG3, BICD2, BSCL2, C12orf65, CCT5, CHCHD10, COA7, COX10, COX6A1, CTDP1, DCAF8, DCTN1, DHTKD1, DNAJB2, DNM2, DNMT1, DST, DYNC1H1, EGR2, ELP1, FBLN5, FGD4, FIG4, FXN, GAN, GARS, GDAP1, GJB1, GLA, GNB4, GNE, HADHB, HARS, HINT1, HK1, HOXD10, HSPB1, HSPB8, IGHMBP2, INF2, KARS, KIF1A, KIF1B, KIF5A, LDB3, LITAF, LMNA, LRSAM1, MARS, MCM3AP, MED25, MFN2, MME, MORC2, MPZ, MTMR2, MYOT, NDRG1, NEFH, NEFL, NGF, NTRK1, PDK3, PLEKHG5, PMP22, POLG, PRDM12, PRPS1, PRX, RAB7A, REEP1, RETREG1, SACS, SBF1, SBF2, SCN11A, SCN9A, SCYL1, SETX, SH3TC2, SLC12A6, SLC25A46, SLC52A2, SLC52A3, SMAD3, SPG11, SPTBN4, SPTLC1, SPTLC2, SURF1, TFG, TRIM2, TRPV4, TTR, TYMP, VCP, WNK1, YARS, ZFYVE26, FBXO38, SIGMAR1, SLC5A7, UBA1, VAPB, VRK1 TWIST or CES 8 Weeks
NGS Gene Panel Coloboma ABCB6, ADAMTS18, ALDH1A3, BCOR, BMP4, BMP7, CHD7, COL4A1, COX7B, CYP1B1, ERCC2, ERCC5, ERCC6, FOXC1, FOXE3, FOXL2, FRAS1, FREM1, FREM2, GJA1, GRIP1, HCCS, HESX1, HMX1, MAB21L2, MFRP, MITF, NAA10, NDP, OCRL, OTX2, PAX2, PAX6, PITX2, PQBP1, PRSS56, PXDN, RAB3GAP1, RARB, RAX, RBP4, SHH, SIX3, SIX6, SLC38A8, SMCHD1, SMOC1, SOX2, STRA6, TENM3, TFAP2A, VPS13B, VSX2, ZIC2 TWIST 8 Weeks
NGS Gene Panel Combined Pituitary Hormone Deficiency (CPHD) GHR, GLI2, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1, SOX2, SOX3 CES 8 Weeks
NGS Gene Panel Comprehensive Growth Disorders & Skeletal Dysplasias ACAN, ACP5, ACTB, ACTG1, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIFM1, AKT1, ALPL, ALX3, ALX4, AMER1, AMMECR1, ANKH, ANKRD11, ANO5, ARCN1, ARHGAP31, ARID1A, ARID1B, ARSB, ARSE, ATP6V0A2, ATR, B3GALT6, B3GAT3, B4GALT7, BCS1L, BGN, BHLHA9, BMP1, BMP2, BMPER, BMPR1B, BRAF, BRCA2, BRIP1, CA2, CANT1, CASR, CBL, CCDC47, CCDC8, CDC42, CDC45, CDC6, CDH11, CDKN1C, CDT1, CENPJ, CEP152, CEP63, CHST14, CHST3, CHSY1, CKAP2L, CLCN5, CLCN7, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL27A1, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, COMP, CREB3L1, CREBBP, CRLF1, CRTAP, CSPP1, CTSK, CUL7, CYP27B1, DDR2, DHCR24, DHCR7, DHODH, DLL3, DLL4, DLX3, DLX5, DMP1, DOCK6, DONSON, DVL1, DYM, DYNC2H1, EBP, EFNB1, EFTUD2, EIF2AK3, ENAM, ENPP1, EOGT, EP300, ERCC4, ESCO2, EVC, EVC2, EXT1, EXT2, EXTL3, EZH2, FAM111A, FAM20A, FAM20C, TENT5A, CCNQ, FAM83H, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FBN1, FBN2, FGD1, FGF10, FGF23, FGFR1, FGFR2, FGFR3, FKBP10, FLNA, FLNB, FN1, GALNT3, GDF5, GH1, GHR, GHRHR, GHSR, GJA1, GLI2, GLI3, GNAS, GNPAT, GPC6, HDAC8, HESX1, HOXA13, HOXD13, HRAS, HSPG2, IDS, IDUA, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, IGF1, IGF1R, IGFALS, IHH, IMPAD1, INPPL1, INSR, IRS1, KAT6B, KIF22, KIF7, KMT2A, KRAS, KYNU, LARP7, LBR, LEMD3, LFNG, LHX3, LHX4, LIFR, LMNA, LMX1B, LONP1, LRP4, LRP5, LTBP2, LTBP3, LZTR1, MAFB, MAP2K1, MAP2K2, MAP3K7, MATN3, MBTPS2, MESP2, MGP, MMP13, MMP2, MMP9, MSX2, MYCN, MYO18B, NANS, NEK1, NF1, NFIX, NIPBL, NKX3-2, NOG, NOTCH1, NOTCH2, NPR2, NRAS, NSD1, NSDHL, OBSL1, ORC1, ORC4, ORC6, OSGEP, OSTM1, OTX2, P3H1, PALB2, PAPSS2, PCNT, PCYT1A, PDE3A, PDE4D, PEX14, PEX19, PEX7, PGM3, PHEX, PIK3CA, PISD, PITX1, PITX2, PLOD2, PLS3, POC1A, POLA1, POLR1C, POLR1D, POP1, POR, POU1F1, PPIB, PPP3CA, PRKAR1A, PRMT7, PROP1, PTDSS1, PTH1R, PTHLH, PTPN11, PUF60, PYCR1, RAB33B, RAD21, RAD51C, RAF1, RALA, RASA2, RBBP8, RBM8A, RBPJ, RECQL4, RIT1, ROR2, RRAS, RSPRY1, RTTN, RUNX2, SALL1, SALL4, SBDS, SEC24D, SERPINF1, SERPINH1, SETBP1, SF3B4, SGMS2, SH3BP2, SH3PXD2B, SHOC2, SHOX, SKI, SLC26A2, SLC29A3, SLC34A3, SLC35D1, SLC39A13, SLCO2A1, SLX4, SMAD3, SMAD4, SMARCA2, SMARCAL1, SMARCE1, SMC1A, SMC3, SNX10, SOS1, SOST, SOX11, SOX2, SOX3, SOX9, SP7, SPARC, SRCAP, STAG2, STAMBP, STAT5B, TALDO1, TBX15, TBX19, TBX2, TBX3, TBX4, TBX5, TBX6, TCF12, TCIRG1, TCOF1, TCTEX1D2, TCTN3, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM38B, TNFRSF11A, TNFRSF11B, TNFSF11, TONSL, TOP3A, TP63, TRAPPC2, TRIM37, TRIP11, TRMT10A, TRPS1, TRPV4, TTC21B, TWIST1, TYROBP, VDR, VIPAS39, WDR19, WDR34, WDR35, WDR60, CCN6, WNT1, WNT5A, WNT7A, XRCC2, XRCC4, XYLT1, XYLT2 TWIST 8 Weeks
NGS Gene Panel Comprehensive Hearing Loss and Deafness ABHD12, ACTG1, ADGRV1, AIFM1, ALMS1, ANKH, ATP6V1B1, BCS1L, BSND, BTD, CABP2, CACNA1D, CCDC50, CD151, CDH23, CDKN1C, CEACAM16, CHD7, CHSY1, CIB2, CLDN14, CLRN1, COCH, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, CRYM, DCAF17, GSDME, WHRN, PJVK, DIABLO, DIAPH1, DIAPH3, DLX5, DNMT1, DSPP, EDN3, EDNRB, ESPN, ESRRB, EYA1, EYA4, FGF3, FGFR3, FOXI1, GATA3, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRHL2, GRXCR1, HARS, HARS2, HGF, HOXB1, HSD17B4, ILDR1, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, KIT, LHFPL5, LOXHD1, LRP2, LRTOMT, MAN2B1, MANBA, MARVELD2, MET, MGP, MITF, MSRB3, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NARS2, NDP, NLRP3, OTOA, OTOF, OTOG, OTOGL, PAX3, PCDH15, PDZD7, PEX1, PEX26, PEX6, PNPT1, POLR1C, POLR1D, POU3F4, POU4F3, PRPS1, RDX, RMND1, RPS6KA3, SALL1, SALL4, SEMA3E, SERPINB6, SIX1, SIX5, SLC17A8, SLC19A2, SLC26A4, SLC26A5, SLC29A3, SLC33A1, SLC52A2, SLC52A3, SLITRK6, SMAD4, SMPX, SNAI2, SOX10, STRC, SUCLA2, SUCLG1, TBC1D24, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, TRMU, TSPEAR, TYR, USH1C, USH1G, USH2A, VCAN, WFS1 CES 8 Weeks
NGS Gene Panel Comprehensive Muscular Dystrophy and Myopathy ACAD9, ACADL, ACADM, ACADVL, ACTA1, ADSSL1, AGL, AGRN, ALG14, ALG2, AMPD1, AMPD3, ANO5, ASAH1, ATP2A1, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, BSCL2, BVES, CACNA1S, CAPN3, CASQ1, CAV3, CAVIN1, CCDC78, CFL2, CHAT, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CLCN1, CNTN1, COL12A1, COL13A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COLQ, CPT1B, CPT2, CRYAB, DAG1, DES, DMD, DNAJB2, DNAJB6, DNM2, DOK7, DPAGT1, DPM1, DPM2, DPM3, DYNC1H1, DYSF, ECEL1, EGR2, EMD, ETFA, ETFB, FBXO38, FDX1L, FHL1, FKBP14, FKRP, FKTN, FLNC, GAA, GBE1, GFPT1, GLDN, GLE1, GMPPB, GNE, GOLGA2, GYS1, HADHA, HADHB, HNRNPA1, HNRNPA2B1, HNRNPDL, IGHMBP2, INPP5K, ISCU, ISPD(CRPPA ), ITGA7, KBTBD13, KCNJ2, KLHL40, KLHL41, KLHL9, KY, LAMA2, LAMP2, LARGE1, LDB3, LIMS2, LMNA, LMOD3, LPIN1, MAP3K20, MATR3, MEGF10, MICU1, MME, MTM1, MTMR14, MUSK, MYH2, MYH3, MYH7, MYL2, MYO18B, MYOT, MYPN, NALCN, NEB, OPA1, OPA3, PABPN1, PAX7, PEX1, PEX12, PEX14, PEX2, PEX26, PEX3, PEX5, PEX6, PFKM, PGAM2, PGM1, PHKA1, PLEC, PLEKHG5, PMM2, PNPLA2, POGLUT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PREPL, PYGM, PYROXD1, RAPSN, RBCK1, RRM2B, RXYLT1, RYR1, RYR2, SCN4A, SELENON, SEPT9, SGCA, SGCB, SGCD, SGCE, SGCG, SIL1, SLC18A3, SLC52A2, SLC52A3, SLC5A7, SMCHD1, SNAP25, SPEG, SPTBN4, SQSTM1, STAC3, STIM1, SUCLA2, SYNE1, SYNE2, SYT2, TAZ, TBCK, TCAP, TIA1, TK2, TMEM126B, TMEM43, TNNI2, TNNT1, TNNT3, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRIP4, TRPV4, TTN, TWNK, TYMP, UBA1, UNC80, VCP, VMA21, VPS13A, VRK1 TWIST 8 Weeks
NGS Gene Panel Cone Rod Dystrophy ABCA4, ADAM9, ADAMTS18, AIPL1, ARHGEF18, BEST1, C21ORF2, C8ORF37, CABP4, CACNA1F, CACNA2D4, CDHR1, CEP78, CERKL, CLN3, CNGA3, CNGB3, CNNM4, CRB1, CRX, CYP4V2, GNAT2, GUCA1A, GUCY2D, KCNV2, MERTK, PDE6C, PDE6H, PITPNM3, POC1B, PROM1, PRPH2, RAB28, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RPGR, RPGRIP1, SEMA4A, TTLL5 TWIST 8 Weeks
NGS Gene Panel Congenital Adrenal Hyperplasia (CAH) ARMC5, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP21A2, HSD3B2, PDE11A, PDE8B, POR, PRKAR1A, STAR TWIST 8 Weeks
NGS Gene Panel Congenital Diarrhea ADAM17, ALPI, CYP27A1, DGAT1, EPCAM, FOXP3, GUCY2C, IL10, IL10RA, IL10RB, IL21, LCT, LIPA, MVK, MYO5B, NCF2, NEUROG3, SAR1B, SI, SKIV2L, SLC10A2, SLC26A3, SLC5A1, SLC9A3, SPINT2, STX3, TTC37, TTC7A, XIAP TWIST 8 Weeks
NGS Gene Panel Ciliopathy ACVR2B, AHI1, ALMS1, ANKS6, ARL13B, ARL6, ARMC9, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C21ORF2, C2CD3, C5ORF42, C8ORF37, CC2D2A, CENPF, CEP104, CEP120, CEP164, CEP19, CEP290, CEP41, CEP83, CPE, CRB2, CSPP1, DCDC2, DDX59, DHCR7, DYNC2H1, DYNC2LI1, EVC, EVC2, FAM58A, GLI2, GLI3, GLIS2, HYLS1, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT80, IFT81, INPP5E, INVS, IQCB1, KIAA0556, KIAA0586, KIAA0753, KIF14, KIF7, LEFTY2, LZTFL1, MAPKBP1, MKKS, MKS1, NEK1, NEK8, NODAL, NPHP1, NPHP3, NPHP4, OFD1, PDE6D, PKD1, PKD2, PKHD1, PMM2, PNPLA6, POC1B, RPGRIP1L, SCAPER, SCLT1, SDCCAG8, TCTEX1D2, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TRAF3IP1, TRIM32, TTC21B, TTC8, USP9X, WDPCP, WDR19, WDR34, WDR35, WDR60, ZIC3, ZNF423 TWIST 8 Weeks
NGS Gene Panel Congenital Hepatic Fibrosis AHI1, ANKS6, ARL13B, ARL6, B9D1, B9D2, BAAT, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C5ORF42 (CPLANE1), CC2D2A, CEP164, CEP290, CEP41, DCDC2*, GLIS2, INPP5E, INVS, IQCB1, KIF7, LIPA, MKKS, MKS1, NEK8, NPHP1, NPHP3, NPHP4, NR1H4, OFD1, PKD2, PKHD1, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TRIM32, TTC21B, TTC8, WDR19, WDR35, ZNF423 TWIST or CES 8 Weeks
NGS Gene Panel Congenital Hypopituitarism ARNT2*, DMXL2*, FGF8, FGFR1, GH1, GHRH, GHRHR, GHSR, GLI2, GPR161*, HESX1, HHIP*, IGSF1, KAL1*, LHX3, LHX4, OTX2, PITX2, POU1F1, PROKR2, PROP1, RNPC3*, SHH, SOX2, SOX3, TGIF1 TWIST or CES 8 Weeks
NGS Gene Panel Congenital Myasthenic Syndromes (CMS) AGRN, ALG14, ALG2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, DOK7, DPAGT1, FLAD1, GFPT1, GMPPB, LAMB2, LRP4, MUSK, MYO9A, PLEC, PREPL, RAPSN, SCN4A, SLC5A7, STIM1, SYT2 TWIST 8 Weeks
NGS Gene Panel Connective Tissue ABCC6, ACTA2, ACVR1, ADAMTS2, ADAMTSL2, AEBP1, ALDH18A1, ALPL, ATP6AP1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, BGN, C1R, C1S, CBS, CDK13, CHD4, CHST14, CHST3, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, CSGALNACT1, DCHS1, DSE, EFEMP2, ELN, ERBIN, FBLN5, FBN1, FBN2, FKBP14, FLCN, FLNA, FLNB, FOXE3, GGCX, GORAB, IMPAD1, KIF22, LOX, LOXL3, LRP2, LTBP3, LTBP4, LZTS1, MAT2A, MED12, MFAP5, MYH11, MYLK, NEK9, NEPRO, NOTCH1, NT5E, P4HA1, PLOD1, PLP1, PRDM5, PRKG1, PYCR1, RIN2, ROCK2, SERPING1, SHOC2, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMS, SPARC, TGFB2, TGFB3, TGFBR1, TGFBR2, TNFRSF1A, TNXB, VCAN, ZBTB25, ZNF469 TWIST 8 Weeks
NGS Gene Panel Cornelia de Lange AFF4, ANKRD11, HDAC8, KMT2A, NIPBL, RAD21, SMC1A, SMC3, TAF6 TWIST 8 Weeks
NGS Gene Panel Cystic Kidney Disease ALG8, ANKS6, BICC1, CEP164, CEP290, CEP83, CEP89, COL4A1, CRB2, DCDC2, DICER1, DNAJB11, DZIP1L, EYA1, GANAB, GLIS2, HNF1B, IFT172, INVS, IQCB1, JAG1, LRP5, MAPKBP1, NEK8, NOTCH2, NPHP1, NPHP3, NPHP4, OFD1, PAX2, PKD1, PKD2, PKHD1, PRKCSH, RPGRIP1L, SDCCAG8, SEC61A1, SEC63, SIX5, TMEM67, TSC1, TSC2, TTC21B, UMOD, VHL, WDR19, ZNF423 TWIST 8 Weeks
NGS Gene Panel Diabetes - Monogenic - Comprehensive ABCC8, APPL1*, BLK, CEL, EIF2AK3, FOXP3, GATA6, GCK, GLIS3, GLUD1*, HADH, HNF1A, HNF1B, HNF4A, INS, INSR, KCNJ11, KLF11, NEUROD1, NEUROG3, PAX4, PDX1, PPARG, PTF1A, RFX6, SLC16A1, SLC2A2, UCP2, WFS1, ZFP57* TWIST or CES 8 Weeks
NGS Gene Panel Dystonia ADAR, ADCY5, AFG3L2, ANO3, APTX, ARSA, ATM, ATP13A2, ATP1A3, ATP7B, BCAP31, CACNA1A, CACNA1B, CACNA1G, CIZ1, COASY, COL6A3, CYP27A1, DCAF17, DDC, DLAT, DNAJC12, DRD2, DRD5, FA2H, FITM2, FTL, GCDH, GCH1, GLRA1, GNAL, HEXA, HPCA, KCNMA1, KCTD17, KMT2B, MARS2, MECR, MIPEP, MRE11A, NKX2-1, NPC1, NPC2, PANK2, PDE10A, PDGFB, PDGFRB, PLA2G6, PNKD, PNKP, POLR3B, PRKN, PRKRA, PRRT2, RELN, SCP2, SGCE, SLC16A2, SLC19A3, SLC20A2, SLC2A1, SLC30A10, SLC39A14, SLC6A3, SPR, SYNJ1, TAF1, TH, THAP1, TIMM8A, TOR1A, TPK1, TRAPPC11, TUBB4A, UBTF, VAC14, VPS13A, WDR45, XPR1 TWIST 8 Weeks
NGS Gene Panel Ectodermal Dysplasia BCS1L, CDH3, DSP, EDA, EDAR, EDARADD, ERCC2, EVC, EVC2, GJB2, GJB6, HOXC13, HR, IFT122, JUP, KDF1, KREMEN1, KRT74, KRT85, LRP6, LTBP3, MPLKIP, MSX1, NFKBIA, PAX9, PORCN, PRKD1, PVRL4 (NECTIN4), TP63, WDR35, WNT10A TWIST 8 Weeks
NGS Gene Panel Ectopia Lentis AASS, ADAMTS10, ADAMTS17, ADAMTSL4, ASPH*, BCOR, CBS, COL18A1, FBN1, LTBP2, P3H2, PORCN, SUOX, VSX2 TWIST or CES 8 Weeks
NGS Gene Panel Ehlers Danlos Panel ABCC6, ADAMTS2, ALDH18A1, ATP6V0A2, ATP7A, B4GALT7, BGN, CBS, CHST14, COL11A1, COL12A1*, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, CRTAP, DSE*, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, P3H1, PLOD1, PYCR1, SLC39A13, SMAD3, TGFB2, TGFBR1, TGFBR2, TNXB, ZNF469 TWIST or CES 8 Weeks
NGS Gene Panel Endocrine Cancer AIP, APC, CDC73, CDKN1B, DICER1, FH, MAX, MEN1, MET, NF1, PRKAR1A, PTEN, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, TP53, VHL, WRN TWIST 8 Weeks
NGS Gene Panel Epidermolysis Bullosa ATP2C1, CDSN*, COL17A1, COL7A1, CSTA, DSG1, DSG2, DSG4, DSP, DST, EXPH5, FERMT1, GRIP1, ITGA3, ITGA6, ITGB4, KLHL24*, KRT1, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC, TGM5 TWIST or CES 8 Weeks
NGS Gene Panel Epidermolytic Palmoplantar Keratoderma AAGAB, ALOX12B, ALOXE3, AQP5, CARD14, CAST*, CTSC, DES, DSC2, DSG1, DSG2, DSP, ELOVL4, ENPP1, GJA1*, GJB2, GJB3, GJB4, GJB6, JUP, KDSR*, KRT1, KRT10, KRT14, KRT16, KRT17, KRT6A, KRT6B*, KRT6C, KRT9, LOR, MBTPS2, PKP1, RHBDF2, RSPO1, SERPINB7*, SLURP1, SMARCAD1, SNAP29, TAT, TRPV3, WNT10A TWIST or CES 8 Weeks
NGS Gene Panel Epilepsy - Comprehensive ABAT, ABCA2, ABCD1, ACTL6B, ADAM22, ADAR, ADPRHL2, ADSL, AFG3L2, AGA, AIFM1, AIMP1, ALDH3A2, ALDH5A1, ALDH7A1, ALG13, ALKBH8, AMACR, AMT, ANKRD11, AP2M1, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, COA8, ARG1, ARHGEF9, ARID1B, ARSA, ARX, ASAH1, ASNS, ASPA, ASXL3, ATP13A2, ATP1A3, ATP6V1A, ATRX, BRAT1, BTD, C12orf57, CACNA1A, CACNA1B, CACNA1D, CACNA1E, CACNA1H, CACNB4, CASK, CASR, CC2D1A, CDK9, CDKL5, CERS1, CHD2, CHRNA2, CHRNA4, CHRNB2, CLCN2, CLCN4, CLN3, CLN5, CLN6, CLN8, CLTC, CNKSR2, CNPY3, CNTNAP2, COA7, COL4A1, COL4A3BP, COX15, COX6B1, CPT2, CSF1R, CSNK2B, CSTB, CTC1, CTSD, CTSF, CUL4B, CYFIP2, CYP27A1, D2HGDH, DARS, DARS2, DCX, DDC, DDX3X, DEGS1, DENND5A, DEPDC5, DHFR, DHPS, DNAJC5, DNM1, DNM1L, DOCK7, DPYD, DPYS, DYRK1A, EARS2, ECHS1, ECM1, EEF1A2, EFHC1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF3F, EPM2A, EPRS, ETFA, ETFB, ETFDH, ETHE1, FA2H, FAM126A, FAR1, FARS2, FDFT1, FDX2, FGF12, FH, FLNA, FOLR1, FOXG1, FOXRED1, FRRS1L, FUT8, GABBR2, GABRA1, GABRB2, GABRB3, GABRG2, GALC, GAMT, GCDH, GCH1, GFAP, GFM1, GFM2, GJC2, GLB1, GLDC, GLRB, GNAO1, GNB1, GNE, GOLGA2, GOSR2, GPAA1, GPHN, GRIA3, GRIA4, GRIK2, GRIN1, GRIN2A, GRIN2B, GRN, GTPBP3, HACE1, HCN1, HCN2, HECW2, HEPACAM, HIBCH, HNRNPU, HSD17B10, HSPD1, HTRA1, IBA57, ICK, IQSEC2, IRF2BPL, KCNA1, KCNA2, KCNB1, KCNC1, KCNH1, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD3, KCTD7, KDM5C, NEXMIF, KIF1A, KMT2E, L2HGDH, LGI1, LMNB1, LRPPRC, LYRM7, MACF1, MAGI2, MARS2, MBD5, MBOAT7, MDH2, MECP2, MED12, MED17, MEF2C, MFSD8, MIPEP, MLC1, MOCS1, MRPL44, MTFMT, MTHFR, MTOR, NACC1, NBEA, NDST1, NDUFAF3, NDUFAF5, NDUFAF6, NDUFS2, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NECAP1, NEU1, NEUROD2, NFU1, NHLRC1, NKX6-2, NOTCH3, NPRL3, NRXN1, NT5C2, NUBPL, NUS1, OFD1, OPHN1, P4HTM, PARS2, PCDH19, PGK1, PHACTR1, PHF6, PIGA, PIGB, PIGC, PIGG, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGV, PIGW, PITRM1, PLAA, PLCB1, PLP1, PNKP, PNPO, POLG, POLR3A, POLR3B, PPP2CA, PPP3CA, PPT1, PRICKLE1, PRIMA1, PRODH, PLPBP, PRRT2, PSAP, PTPN23, PTS, PUM1, PURA, PYCR2, QARS, QDPR, RAB39B, RALA, RARS, RELN, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF216, ROGDI, RORB, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SCO1, SDHAF1, SERAC1, SERPINI1, SIK1, SLC12A5, SLC13A5, SLC19A3, SLC1A4, SLC25A1, SLC25A15, SLC25A22, SLC25A42, SLC2A1, SLC35A2, SLC39A8, SLC46A1, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMC1A, SMS, SNAP25, SOX10, SPATA5, SPTAN1, SPTBN4, ST3GAL3, ST3GAL5, STX1B, STXBP1, SUMF1, SUOX, SYN1, SYNGAP1, SYNJ1, SZT2, TAF1, TBC1D20, TBC1D24, TBCD, TBCE, TBCK, TBL1XR1, TCF4, TPK1, TPP1, TRAK1, TREX1, TRIM8, TSC1, TSC2, TTC19, TUBB4A, UBA5, UBE2A, UBE3A, UNC80, VAMP2, VARS, VPS13A, WARS2, WASF1, WDR26, WDR45, WWOX, YY1, ZEB2, ZFYVE26 TWIST 8 Weeks
NGS Gene Panel Epileptic Encephalopathy ABAT, ACTL6B, ADAM22, ADAR, ADPRHL2, ADSL, ALDH7A1, ALG13, AMT, AP2M1, AP3B2, APOPT1, ARHGEF9, ARX, ASNS, ATP6V1A, BRAT1, CACNA1A, CACNA1B, CACNA1E, CASK, CDKL5, CHD2, CLCN4, CLTC, CNKSR2, CNPY3, CNTNAP2, COX6B1, CPT2, CYFIP2, D2HGDH, DCX, DENND5A, DNM1, DNM1L, DOCK7, ECHS1, EEF1A2, ETHE1, FAR1, FARS2, FGF12, FLNA, FOXG1, FRRS1L, GABBR2, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GLDC, GNAO1, GPHN, GRIN1, GRIN2A, GRIN2B, GTPBP3, HCN1, HECW2, HEPACAM, HIBCH, HNRNPU, KCNA2, KCNB1, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD3, KIF1A, LRPPRC, LYRM7, MBD5, MDH2, MECP2, MED17, MEF2C, MOCS1, MRPL44, MTFMT, MTHFR, NACC1, NDUFAF6, NDUFS2, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NECAP1, NEUROD2, NRXN1, NUBPL, PARS2, PCDH19, PHACTR1, PIGA, PIGB, PIGP, PIGQ, PIGS, PLAA, PLCB1, PNKP, PNPO, POLG, PPP3CA, PROSC, PTPN23, PURA, RMND1, RNASEH2A, RNASEH2B, ROGDI, SAMHD1, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCO1, SDHAF1, SERAC1, SIK1, SLC12A5, SLC13A5, SLC19A3, SLC25A1, SLC25A22, SLC2A1, SLC35A2, SLC6A8, SLC9A6, SNAP25, SPTAN1, ST3GAL3, ST3GAL5, STXBP1, SYN1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TBCD, TBCE, TBCK, TCF4, TRAK1, TREX1, TRIM8, TSC1, TSC2, TTC19, UBA5, UBE3A, UNC80, VARS, WARS2, WDR45, WWOX, ZEB2 TWIST 8 Weeks
NGS Gene Panel Familial Cerebral Small Vessel Disease ABCC6, APP, ATP1A2, CACNA1A, COL3A1, COL4A1, COL4A2, CST3, CTC1, FOXC1, GLA, HTRA1, ITM2B, NOTCH3, SCN1A, TREX1 CES 8 Weeks
NGS Gene Panel Familial Hemiplegic Migraine (Migraine) ATP1A2, ATP1A3, CACNA1A, COL4A1, KCNK18, NOTCH3, POLG, PRRT2, SCN1A, SLC1A3, SLC2A1 TWIST or CES 8 Weeks
NGS Gene Panel Familial Hypercholesterolemia ABCA1, ABCG5, ABCG8, ALMS1, APOA1, APOA5, APOB, APOC2, APOC3*, APOE, CREB3L3, CYP27A1, GHR, GPIHBP1, LDLR, LDLRAP1, LIPA, LMF1, LPL, PCSK9, ANGPTL3, CETP, CYP7A1, GCKR, GPD1, LCAT, LIPC, MTTP, SAR1B, SCARB1, STAP1* TWIST or CES 8 Weeks
NGS Gene Panel Fatty liver and Dyslipidemia ABCA1, ABCA5, ABCA6, ABCA7, ABCG1, ABCG5, ABCG8, ABO, ADCY3, ADRB2, ADRB3, AGRP, ANGPTL3, ANGPTL4, APOA1, APOA2, APOA4, APOA5, APOB, APOC1, APOC2, APOC3, APOE, ASGR1, BDNF, BHMT, BUD13, CARTPT, CBLC, CBS, CCKAR, CD300LG, CELSR2, CETP, CLIP2, COQ2, CPT1A, CPT2, CREB3L3, CYP26A1, CYP27A1, DOCK7, DYRK1B, ELOVL2, EPHX2, FABP2, FABP4, FADS1, FADS2, FFAR4, FTO, G6PC, GALNT2, GCKR, GHRL, GNPDA2, GPD1, GPIHBP1, GUCY1A1, HMGCR, HNF1A, HNF4A, INSIG2, ITGB3, KSR2, LCAT, LDLR, LDLRAP1, LEP, LEPR, LIPA, LIPC, LIPE, LIPG, LIPI, LMF1, LMNA, LPA, LPL, LRP6, MC3R, MC4R, MEF2A, MLXIPL, MTHFD1L, MTHFR, MTR, MTRR, MTTP, MYBPHL, MYLIP, NCAN, NOS3, NPC1, NPC1L1, NR0B2, NTRK2, PCSK1, PCSK9, PEMT, PLA2G7, PLTP, PNPLA3, POMC, PPARA, PPARD, PPARG, PPARGC1A, PPARGC1B, PSRC1, RIC3, SAR1B, SCARB1, SDC3, SH2B1, SHMT1, SIM1, SLC22A1, SLC22A3, SLC25A40, SLC39A8, SLCO1B1, SORT1, SREBF1, STAP1, SVEP1, TM6SF2, TMEM18, TMEM241, TOMM40, TTR, TUB, UCP2, UCP3, USF1, VKORC1, ZPR1 TWIST 8 Weeks
NGS Gene Panel Focal Segmental Glomerulosclerosis (FSGS) ACTN4, ALDH1A2, ANLN, APOL1, ARHGAP24, CD2AP, COQ6, CRB2, INF2, MYO1E, NPHS1, NPHS2, NXF5 , PAX2, TRPC6, WDR73 TWIST 8 Weeks
NGS Gene Panel Glaucoma ADAMTS10, ASB10, BEST1, BMP4, CNTNAP2, COL4A1, COL8A2, CREBBP, CYP1B1, FBN1, FOXC1, FOXE3, GJA1, ISPD, LMX1B, LTBP2, MAF, MYOC, NTF4, OPA1, OPA3, OPTC, OPTN, PAX6, PIK3R1, PITX2, PITX3, POMT1, PRSS56, PXDN, RPS19, RRM2B, SBF2, SH3PXD2B, SIX6, TBK1, TEK, TMEM126A, TTR, WDR36 TWIST 8 Weeks
NGS Gene Panel Glycogen Storage Disease - Comprehensive AGL, ALDOA, ENO3*, EPM2A, FBP1, G6PC, GAA, GBE1, GYG1, GYS1, GYS2, LAMP2, LDHA, NHLRC1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PRKAG2, PRKAG3, PYGL, PYGM, RBCK1*, SLC2A2, SLC37A4 TWIST or CES 8 Weeks
NGS Gene Panel Hearing Loss and Deafness including USHER ABHD12, ACTG1, ADCY1, ADGRV1, AIFM1, ALMS1, ANKH, ARSG, ATP6V1B1, ATP6V1B2, BCS1L, BDP1, BSND, BTD, CABP2, CACNA1D, CCDC50, CD151, CD164, CDC14A, CDH23, CDKN1C, CEACAM16, CEP250, CEP78, CHD7, CHSY1, CIB2, CLDN14, CLIC5, CLPP, CLRN1, COCH, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, CRYM, DCAF17, DCDC2, DIABLO, DIAPH1, DIAPH3, DLX5, DNMT1, DSPP, EDN3, EDNRB, ELMOD3, EPS8, EPS8L2, ESPN, ESRRB, EYA1, EYA4, FDXR, FGF3, FGFR3, FOXI1, GATA3, GIPC3, GJA1, GJB2, GJB3, GJB6, GPSM2, GRHL2, GRXCR1, GRXCR2, GSDME (DFNA5), HARS, HARS2, HGF, HOMER2, HOXB1, HSD17B4, ILDR1, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, KIT, LARS2, LHFPL5, LOXHD1, LRP2, LRTOMT, MAN2B1, MANBA, MARVELD2, MET, MGP, MITF, MSRB3, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NARS2, NDP, NLRP3, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PDZD7, PEX1, PEX26, PEX6, PJVK, PNPT1, POLR1C, POLR1D, POU3F4, POU4F3, PRPS1, RDX, RIPOR2, RMND1, RPS6KA3, S1PR2, SALL1, SALL4, SEMA3E, SERPINB6, SIX1, SIX5, SLC17A8, SLC19A2, SLC26A4, SLC26A5, SLC29A3, SLC33A1, SLC52A2, SLC52A3, SLITRK6, SMAD4, SMPX, SNAI2, SOX10, SPATA5, STRC, SUCLA2, SUCLG1, SYNE4, TBC1D24, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMC1, TMEM132E, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TRMU, TSPEAR, TUBB4B, TWNK, TYR, USH1C, USH1G, USH2A, VCAN, WBP2, WFS1, WHRN (DFNB31) TWIST 8 Weeks
NGS Gene Panel Herediatery Spherocytosis (HS) ANK1, EPB41, EPB42, RHAG, SLC4A1, SPTA1, SPTB CES 8 Weeks
NGS Gene Panel Hereditary Hemorrhagic Telangiectasia (HHT) ACVRL1, ENG, EPHB4*, GDF2*, RASA1, SMAD4 TWIST or CES 8 Weeks
NGS Gene Panel Hirschsprung Disease BDNF, CELSR3*, EDN3, EDNRB, KIF1BP, L1CAM, MITF, NRG1, NRTN, PAX3, PHOX2B, RET, SOX10, ZEB2 TWIST or CES 8 Weeks
NGS Gene Panel Hyperaldosteronism CACNA1D, CACNA1H, CLCN2, KCNJ5, CYP11B1, CYP11B2 CES 8 Weeks
NGS Gene Panel Hypertriglyceridemia APOA5, APOC2 , APOC3 , APOE , CREB3L3 , GCKR , GPD1 , GPIHBP1 , LIPI , LMF1 , LPL , PCDH15 , PNPLA2 , SLC25A40 , TRIB1 TWIST 8 Weeks
NGS Gene Panel Hypertrophic Cardiomyopathy (HCM) A2ML1, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, AKAP9, ALMS1, ALPK3, ANKRD1, APOA1, BAG3, BRAF, CACNA1C, CALR3, CAV3, CAVIN4, CBL, CHRM2, COX15, CPT2, CRYAB, CSRP3, CTF1, CTNNA3, DES, DMD, DOLK, DSC2, DSG2, DSP, DTNA, ELAC2, EMD, EPG5, EYA4, FBXL4, FHL1, FHL2, FHOD3, FKRP, FKTN, FLNC, *FXN (Repeat Expansion not included), GAA, GATA4, GATAD1, GLA, GSK3B, HCN4, HFE, HRAS, ILK, JPH2, JUP, KLHL24, KRAS, LAMA4, LAMP2, LDB3, LMNA, LRRC10, MAP2K1, MAP2K2, MIB1, MIPEP, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYO6, MYOM1, MYOZ2, MYPN, NDUFAF2, NEBL, NEXN, NF1, NKX2-5, NRAS, PDLIM3, PKP2, PLN, PRDM16, PRKAG2, PRKAR1A, PTPN11, RAF1, RASA1, RBM20, RIT1, RRAS, RYR2, SCN5A, SCO2, SGCD, SHOC2, SLC25A4, SOS1, SOS2, SPRED1, TAZ, TBX20, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TOR1AIP1, TPM1, TRIM63, TTN, TTR, TXNRD2, VCL TWIST 8 Weeks
NGS Gene Panel Hypoglycemia Hyperinsulinism and Ketone Metabolism ABCC8, ACADM, ACADVL, ACAT1, ACSF3, AGL, ALDOA, ALDOB, CA5A, DGUOK, ENO3, EPM2A, ETFA, ETFB, ETFDH, FBP1, G6PC, GAA, GALT, GBE1, GCK, GK, GLUD1, GYG1, GYS1, GYS2, HADH, HMGCL, HMGCS2, HNF1A, HNF4A, INSR, KCNJ11, LAMP2, LDHA, MLYCD, MPV17, NHLRC1, NNT, OXCT1, PC, PCK1, PCK2, PDX1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PRKAG2, PRKAG3, PTF1A, PYGL, PYGM, RBCK1, SLC16A1, SLC22A5, SLC25A20, SLC2A2, SLC37A4, TANGO2, UCP2, HK1, PMM2 TWIST 8 Weeks
NGS Gene Panel Hypoparathyroidism AIRE, AP2S1*, CASR, CDC73, CDKN1A, CDKN1B, CDKN2B, CDKN2C, FAM111A*, GATA3, GCM2, GNA11*, GNAS, HADHA, HADHB, MEN1, PTH, PTH1R, RET, SOX3, STX16, TBCE, TRPV6* TWIST or CES 8 Weeks
NGS Gene Panel Hypothyroidism and Resistance to Thyroid Hormone CASR, DUOX2, DUOXA2, FOXE1, GCM2, GLIS3, GNAS, HESX1, IGSF1, IYD, NKX2-1, NKX2-5, PAX8, POU1F1, PROP1, SECISBP2, SLC16A2, SLC26A4, SLC5A5, TBL1X, TG, THRA, THRB, TPO, TRH*, TRHR, TSHB, TSHR, UBR1 TWIST or CES 8 Weeks
NGS Gene Panel Ichthyosis ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, CASP14*, CDSN*, CERS3*, CSTA, CYP4F22, EBP, ERCC2, FLG, GJA1*, GJB2, GJB3, GJB4, KDSR*, KRT1, KRT10, KRT2, KRT9, LIPN, LOR, MBTPS2, MPLKIP, NIPAL4, OSMR, PEX7, PHYH, PNPLA1, SDR9C7*, SLC27A4, SPINK5, ST14, STS, SUMF1, TGM1, TGM5 TWIST or CES 8 Weeks
NGS Gene Panel Inflammatory Bowel Disease ADA, ADAM17, AICDA, BTK, CD3G, CD40LG, CTLA4, CYBA, CYBB, DCLRE1C, DKC1, DOCK8, FOXP3, G6PC3, ICOS, IL10, IL10RA, IL10RB, IL21*, IL2RA, IL2RG, ITGB2, LIG4, LRBA, MEFV, MVK, NCF2, NCF4, NFAT5*, NLRC4*, PIK3CD, PIK3R1, PLCG2, RAG1, RAG2, RTEL1*, SH2D1A, SLC37A4, STAT1, STAT3, STIM1, STXBP2, TTC7A*, WAS, XIAP, ZAP70 TWIST or CES 8 Weeks
NGS Gene Panel Intestinal Pseudo-Obstruction ACTA2, ACTG2, CHD8, CHRM3, CHRNA3, CHRNB2, CHRNB4, CLMP, EDN3, EDNRB, FLNA, LAMA2, LMOD1, MYH11, MYLK, POLG2, RAD21, SOX10, TYMP TWIST 8 Weeks
NGS Gene Panel Kabuki Syndrome CHD7, EYA1, FLNB, IRF6, KDM6A, KMT2D, SIX5 TWIST or CES 8 Weeks
NGS Gene Panel Kallmann Syndrome and Hypogonadotropic Hypogonadism (HH) ANOS1 (KAL1), AXL, CCDC141*, CDK9*, CHD7, CYP19A1*, DUSP6*, ESR1*, FEZF1*, FGF17*, FGF8, FGFR1, FLRT3*, FSHB, GNRH1, GNRHR, HESX1, HS6ST1*, IL17RD*, KISS1, KISS1R, LEP, LEPR, LHB, LHCGR*, LHX3, LHX4, NR0B1, NR5A1*, NSMF, PCSK1, POLR3B, PROK2, PROKR2, PROP1, SEMA3A, SEMA3E, SOX10, SOX2, SOX3*, SPRY4, SRA1*, TAC3, TACR3, WDR11 TWIST or CES 8 Weeks
NGS Gene Panel Leukodystrophy and Leukoencephalopathy ABCD1, ADAR, AIFM1, AIMP1, ALDH3A2, AP4B1, AP4E1, AP4M1, AP4S1, APOPT1, ARSA, ASPA, CLCN2, COA7, COL4A1, COX15, COX6B1, CSF1R, CTC1, CYP27A1, D2HGDH, DARS, DARS2, DEGS1, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EPRS, FA2H, FAM126A, FDX1L, FOLR1, FOXRED1, GALC, GFAP, GFM1, GJC2, HEPACAM, HIBCH, HSPD1, HTRA1, IBA57, L2HGDH, LMNB1, LYRM7, MARS2, MLC1, MRPL44, MTFMT, NDUFAF5, NFU1, NKX6-2, NOTCH3, NT5C2, NUBPL, PLP1, POLR3A, POLR3B, PSAP, PYCR2, RARS, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF216, SAMHD1, SCO1, SDHAF1, SERAC1, SLC1A4, SOX10, SUMF1, TREX1, TTC19, TUBB4A, ZFYVE26 TWIST 8 Weeks
NGS Gene Panel Limb Girdle Muscular Dystrophy (LGMD) ACTA1, ANO5, ASAH1, ATP2A1, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, BVES, CACNA1S, CAPN3, CAV3, CCDC78, CFL2, CHKB, CLCN1, CNTN1, COL12A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, CRPPA, CRYAB, DAG1, DES, DMD, DNAJB2, DNAJB6, DNM2, DOK7, DPM1, DPM2, DPM3, DYNC1H1, DYSF, EGR2, EMD, FHL1, FKRP, FKTN, FLNC, GAA, GBE1, GMPPB, GNE, GOLGA2, HNRNPDL, IGHMBP2, INPP5K, ISPD (CRPPA), ITGA7, KBTBD13, KLHL40, KLHL41, LAMA2, LAMP2, LARGE, LDB3, LIMS2, LMNA, LMOD3, MAP3K20, MEGF10, MICU1, MSTO1, MTM1, MYH2, MYH7, MYO18B, MYOT, NEB, PHKA1, PLEC, PLEKHG5, PNPLA2, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PYGM, PYROXD1, RYR1, SCN4A, SELENON, SEPN1 (SELENON), SGCA, SGCB, SGCD, SGCG, SIL1, SLC52A2, SLC52A3, SMCHD1, SPEG, SPTBN4, SYNE1, TCAP, TMEM5 (RXYLT1), TNNI2, TNNT1, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRIP4, TRPV4, TTN, UBA1, VCP, VMA21, VRK1 TWIST 8 Weeks
NGS Gene Panel Lissencephaly ACTB, ACTG1, ADGRG1, ARX, ATP6V0A2, B3GALNT2, B4GAT1, CDK5, CIT, COL6A1, COL6A2, COL6A3, CRADD, DCX, DYNC1H1, EOMES, FKRP, FKTN, GMPPB, ISPD, KATNB1, KIAA1109, KIF2A, KIF5C, LAMA2, LAMB1, LARGE1, LMNA, MACF1, NDE1, PAFAH1B1, POMGNT1, POMGNT2, POMT1, POMT2, RELN, SELENON, TMEM5, TMTC3, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, VLDLR, WDR62, YWHAE TWIST 8 Weeks
NGS Gene Panel LQT AKAP9, ANK2, CACNA1C, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, NOS1AP, SCN5A, TECRL TWIST or CES 8 Weeks
NGS Gene Panel Lymphedema A2ML1  , ADAMTS3, BRAF, CALCRL, CBL , CCBE1, EPHB4, FAT4, FLT4, FOXC2, GATA2, GJC2, HRAS , KIF11, KRAS, MAP2K1 , MAP2K2 , NF1 , NRAS, PDPN, PIEZO1, PIK3CA, PTPN11, RAF1, RASA1, RELN, RIT1 , RRAS , SHOC2 , SOS1, SOS2 , SOX18, SPRED1, VEGFC TWIST 8 Weeks
NGS Gene Panel Macrocephaly/Overgrowth Syndrome AKT1, AKT2, AKT3, ASPA, ASXL2, BRWD3, CCND2, CDKN1C, CHD8, CUL4B, DHCR24, DIS3L2, DNMT3A, EED, EIF2B5, EZH2, GFAP, GLI3, GPC3, GPSM2, GRIA3, HEPACAM, HERC1, HUWE1, KDM1A, KIAA0196 (WASHC5), KIF7, KPTN, KRAS, L1CAM, MED12, MLC1, MPDZ, MTOR, NF1, NFIA, NFIB, NFIX, NPR2, NSD1, OFD1, PHF6, PIGA, PIK3CA, PIK3R2, PPP2R5D, PTCH1, PTEN, RAB39B, RNF125, RNF135, SETD2, SNX14, SPRED1, SYN1, TBC1D7, TMEM94, TSC1, TSC2, UPF3B, ZBTB20 TWIST 8 Weeks
NGS Gene Panel Macular Corneal Dystrophy AGBL1*, CHRDL1, CHST6, COL17A1, COL5A1, COL8A2, CYP4V2, DCN, FOXE3, GJA8, GRHL2, GSN, KERA, KRT12, KRT3, LCAT, LOXHD1, MAF, NLRP3, OVOL2*, PAX6, PIKFYVE, PITX2, PRDM5, SLC4A11, TACSTD2, TCF4, TGFBI, UBIAD1, VSX1, ZEB1, ZNF469 TWIST or CES 8 Weeks
NGS Gene Panel Marfan Syndrome ABL1, ADAMTS10, ADAMTS17, ADAMTSL4, B3GAT3*, BGN, CBS, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, EFEMP2, FBN1, FBN2, LOX, MAT2A*, MED12, PLOD1, SKI, SLC2A10, SMAD3, SMAD6, TGFB2, TGFB3, TGFBR1, TGFBR2, UPF3B, VCAN, ZDHHC9 TWIST or CES 8 Weeks
NGS Gene Panel Metabolic Myopathy and Rhabdomyolysis ACAD9, ACADL, ACADM, ACADVL, ADCK3, AGL, AHCY, ALDOA, AMPD1, ANO5, C10ORF2, CAV3, COQ2, CPT2, DYSF, ENO3, ETFA, ETFB, ETFDH, FKRP, FKTN, FLAD1, GAA, GBE1, GYG1, GYS1, HADHA, HADHB, ISCU, LDHA, LPIN1, MYH3, OPA1, OPA3, PFKM, PGAM2, PGK1, PGM1, PHKA1, POLG, POLG2, PYGM, RBCK1, RRM2B, RYR1, SCN4A, SLC22A5, SLC25A20, SUCLA2, SUCLG1, TANGO2, TK2, TYMP TWIST 8 Weeks
NGS Gene Panel Mitochondrial Myopathy - Nuclear DNA POLG1, POLG2, RRM2B, TWNK, DNA2, TK2, DGUOK, TYMP, MGME1, FBXL4, MPV17, PUS1, YARS2, PNPLA8, AGK, OPA1, MSTO1, SLC25A4, SLC25A42, GFER, SPG7, AFG3L2, SDHA, NDUFS1, COX20, ISCU, IBA57, FDX1L, CHCHD10 TWIST 8 Weeks
NGS Gene Panel MODY ABCC8, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1, RFX6 CES 8 Weeks
NGS Gene Panel Movement Disorders ADAR, ADCY5, AFG3L2, ANO3, APTX, ARSA, ATM, ATP13A2, ATP1A3, ATP6AP2, ATP7B, C19orf12, CACNA1A, COASY, CP, CYP27A1, DCAF17, DLAT, DNAJC5, DNAJC6, FA2H, FBXO7, FTL, GBA, GCDH, GCH1, GLRA1, GNAL, HEXA, KCNMA1, KMT2B, LRRK2, MARS2, MCOLN1, MRE11A, NKX2-1, NPC1, NPC2, PANK2, PARK7, PDGFB, PINK1, PLA2G6, PNKD, PNKP, POLG, POLR3B, PRKN, PRKRA, PRRT2, SCP2, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC30A10, SLC6A3, SMPD1, SNCA, SPR, SYNJ1, TH, THAP1, TIMM8A, TOR1A, TOR1AIP1, TPK1, TRAPPC11, TUBB4A, TWNK, VPS13A, VPS35, WDR45, XPR1 TWIST 8 Weeks
NGS Gene Panel Neonatal Cholestasis ABCB11, ABCB4, ABCC2, ABCD3, ABCG5, ABCG8, ACOX2, AKR1C4, AKR1D1, ALDOB, AMACR, ATP7B, ATP8B1, BAAT, CC2D2A, CFTR, CLDN1, CREB3L3, CYP27A1, CYP7A1, CYP7B1, DCDC2, DGUOK, DHCR7, EHHADH, EPCAM, FADD, FAH, FAS, FASLG, GALT, GBA, GPBAR1, HAMP , HFE, HJV, HNF1A, HNF1B, HSD17B4, HSD3B7, INVS, ITCH, ITK, JAG1, KMT2D, LCT, LIPA, LMF1, LYST, MAGT1, MKS1, MPV17, MYO5A, MYO5B, NEUROG3, NOTCH2, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NR1H4, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PKD1L1, PKHD1, POLG, PRF1, RAB27A, RECQL4, SCP2, SCYL1, SERPINA1, SH2D1A, SLC10A1, SLC10A2, SLC25A13, SLC26A3, SLC27A5, SLC40A1, SLC51A, SLC51B, SMPD1, SPINT2, STX11, STXBP2, TALDO1, TFR2, TJP2, TMEM216, TRMU, TTC37, UGT1A1, UNC13D, UTP4, VIPAS39, VPS33B, XIAP TWIST 8 Weeks
NGS Gene Panel Nephrolithiasis ADCY10, AGXT, ALPL, APRT, ATP6V0A4, ATP6V1B1, CA2, CASR, CLCN5, CLDN16, CLDN19, CYP24A1, FAM20A, GNA11, GPHN, GRHPR, HNF4A, HOGA1, HPRT1, KCNJ1, MOCOS, MOCS1, OCRL, PREPL, SLC12A1, SLC22A12, SLC26A1, SLC2A9, SLC34A1, SLC34A3, SLC3A1, SLC4A1, SLC7A9, SLC9A3R1, UMOD, VDR, XDH, MUC1, REN, HNF1B TWIST 8 Weeks
NGS Gene Panel Nephronophthisis AHI1, ANKS6, CC2D2A, CEP164, CEP290, CEP83*, DCDC2*, GLIS2, IFT172, INVS, IQCB1, MAPKBP1*, NEK8, NPHP1, NPHP3, NPHP4, OFD1, PKHD1, RPGRIP1L, SDCCAG8, TCTN1, TMEM216, TMEM237, TMEM67, TTC21B, WDR19, XPNPEP3, ZNF423 TWIST or CES 8 Weeks
NGS Gene Panel Nephrotic Syndrome ACTN4, ANLN, APOL1, ARHGAP24, ARHGDIA, CD2AP, COL4A3, COL4A4, COL4A5, COL4A6, COQ2, COQ6, COQ8B (ADCK4), CRB2, CUBN, DGKE, DLC1, EMP2, FAN1, FAT1, FN1, INF2, ITGA3, ITGB4, KANK1, KANK2, KANK4, LAMB2, LMX1B, MAFB, MAGI2, MEFV, MYH9, MYO1E, NPHS1, NPHS2, NUP107, NUP205, NUP93, OSGEP, PAX2, PDSS2, PLCE1, PTPRO, SCARB2, SGPL1, SMARCAL1, TRPC6, TTC21B, WDR73, WT1, XPO5 TWIST 8 Weeks
NGS Gene Panel Neurometabolic Disorders ABCD1, ABCD4 , ACAT1 , AGA , ALDH5A1, ALDH7A1, AMN , AMT , ARG1, ARHGEF9, ARSA , ASL , ASS1 , ATP7A, ATP7B , AUH, BCKDHA , BCKDHB, BTD, CBS, CD320, CP, CPS1, CUBN , CYP27A1, DBT , DHCR7, DLAT, DLD, ETFA, ETFB, ETFDH, ETHE1, GALC, GAMT, GATM , GCDH, GCH1 , GCSH , GIF, GLA, GLDC , GLRA1, GLRB , GLUD1, GUSB, HCFC1, HLCS, HMGCL, HMGCS2 , HSD17B10, IDS , IDUA , IVD , LIPA, LMBRD1 , MAN2B1, MCCC1, MCCC2, MMAA, MMAB , MMACHC, MMADHC , MOCS1 , MTHFR , MTR , MTRR , MUT, NAGS , NPC1, NPC2, OTC, OXCT1, PAH, PANK2 , PCBD1 , PCCA, PCCB , PDHA1, PDHB, PDHX, PDP1 , PHGDH, PNPO, PPM1K, PSAT1 , PSPH, PTS, QDPR, SGSH, SLC19A3, SLC25A13 , SLC25A15 , SLC2A1 , SLC6A5 , SLC6A8 , SPR, TAT, TCN1, TCN2, TH, TPP1 TWIST 8 Weeks
NGS Gene Panel Neuromuscular Disorders ACTA1, AGRN, ALG2, ANO5, ASAH1, ATP2A1, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, BVES, CACNA1S, CAPN3, CAV3, CCDC78, CFL2, CHAT, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CLCN1, CNTN1, COL12A1, COL6A1, COL6A2, COL6A3, COLQ, CPT2, CRPPA (ISPD), CRYAB, DAG1, DES, DMD, DNAJB2, DNAJB6, DNM2, DOK7, DPAGT1, DPM1, DPM2, DPM3, DYNC1H1, DYSF, EGR2, EMD, FHL1, FKBP14, FKRP, FKTN, FLNC, GAA, GBE1, GFPT1, GMPPB, GNE, GYS1, IGHMBP2, ITGA7, KBTBD13, KCNJ2, KLHL40, KLHL41, LAMA2, LAMP2, LARGE1 (LARGE), LDB3, LMNA, LMOD3, MATR3, MEGF10, MICU1, MTM1, MUSK, MYH2, MYH7, MYL2, MYOT, MYPN, NEB, PHKA1, PLEC, PLEKHG5, PNPLA2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PREPL, PYGM, RAPSN, RXYLT1 (TMEM5), RYR1, SCN4A, SELENON (SEPN1 ), SGCA, SGCB, SGCD, SGCG, SIL1, SLC52A2, SLC52A3, SLC5A7, SQSTM1, STAC3, STIM1, SYNE1, TAZ, TCAP, TIA1, TNNI2, TNNT1, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRIP4, TRPV4, TTN, UBA1, VCP, VMA21, VRK1 TWIST 8 Weeks
NGS Gene Panel Neuro-Ophthalmology panel including Nystagmus ACO2, AFG3L2, ANTXR1, APTX, ATAD3A, AUH, C10ORF2, C12ORF65, C19ORF12, CHN1, CISD2, DNAJC19, DNM1L, FDXR, FRMD7, GPR143, HESX1, KIF21A, MECR, MFN2, MTPAP, NDUFS1, NR2F1, OPA1, OPA3, OTX2, PAX6, PHOX2A, POLG, PRPS1, ROBO3, RRM2B, RTN4IP1, SALL4, SETX, SLC25A4, SLC25A46, SLC38A8, SOX2, SPG7, TIMM8A, TK2, TMEM126A, TSFM, TUBB3, TYMP, UCHL1, WFS1, YME1L1, ZNHIT3 TWIST 8 Weeks
NGS Gene Panel Neuropathies AARS, AIFM1, ATL1, ATL3, ATP7A, BICD2, BSCL2, CHCHD10, DCTN1, DNAJB2, DNM2, DNMT1, DST, DYNC1H1, EGR2, ELP1, FBXO38, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GLA, GNB4, HARS, HCN2, HINT1, HSPB1, HSPB8, IGHMBP2, INF2, KIF1A, KIF5A, LITAF, LMNA, LRSAM1, MED25, MFN2, MME, MORC2, MPZ, MTMR2, NDRG1, NEFL, NGF, NTRK1, PDK3, PIEZO2, PLEKHG5, PMP22, PRDM12, PRPS1, PRX, RAB7A, REEP1, RETREG1, SBF1, SBF2, SCN10A, SCN11A, SCN8A, SCN9A, SEPTIN9, SH3TC2, SIGMAR1, SLC12A6, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SPG11, SPTLC1, SPTLC2, TFG, TRIM2, TRPA1, TRPV4, TTR, UBA1, VAPB, VRK1, WNK1, YARS TWIST 8 Weeks
NGS Gene Panel Non-Syndromic Hearing Loss ACTG1, ADCY*, ATP2B2, BDP1*, BSND, CABP2, CCDC50, CD164*, CDC14A*, CDH23, CEACAM16, CEP78*, CIB2, CLDN14, CLIC5*, COCH, COL11A2, COL4A6, CRYL1*, CRYM, DCDC2*, DIABLO, DIAPH1, DIAPH3, DMXL2*, DSPP, ELMOD3*, EPS8*, EPS8L2*, ESPN, ESRRB, EYA4, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRHL2, GRXCR1, GRXCR2*, GSDME, HARS2, HGF, HOMER2*, ILDR1, KARS, KCNQ4, KITLG, LHFPL5, LMX1A*, LOXHD1, LRTOMT, MARVELD2, MET, MPZL2*, MSRB3, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NARS2, OSBPL2*, OTOA, OTOF, OTOG, OTOGL, P2RX2*, PCDH15, PDE1C*, PJVK, PNPT1, POU3F4, POU4F3, PRPS1, PTPRQ, RDX, RIPOR2*, ROR1*, S1PR2*, SERPINB6, SIX1, SLC17A8, SLC22A4, SLC26A4, SLC26A5, SLITRK6, SMPX, STRC, SYNE4*, TBC1D24, TECTA, TJP2, TMC1, TMC2*, TMEM132E*, TMIE, TMPRSS3, TNC*, TPRN, TRIOBP, TSPEAR, USH1C, WBP2*, WFS1, WHRN TWIST or CES 8 Weeks
NGS Gene Panel Noonan ACTB, ACTG1, BRAF, CBL, CCNK*, CDC42*, EPHB4, FGD1, HRAS, KAT6B, KRAS, LZTR1*, MAP2K1, MAP2K2, MAP3K8, MRAS*, NF1, NF2, NRAS, NSUN2, PPP1CB*, PTPN11, RAF1, RASA1, RASA2*, RIT1*, RRAS*, SASH1*, SHOC2, SMARCB1, SOS1, SOS2*, SPRED1, STAMBP*, SYNGAP1* TWIST or CES 8 Weeks
NGS Gene Panel Obesity ADCY3, ALMS1, ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CEP19*, CEP290, CPE, CUL4B, DYRK1B*, GNAS, KSR2*, LEP, LEPR, MAGEL2, MC3R, MC4R, MKKS, MKS1, NR0B2, NTRK2, PCSK1, PHF6, PHIP, POMC, PPARG, SDCCAG8, SH2B1, SIM1, TRIM32, TTC8, TUB, UCP3, VPS13B, WDPCP, BDNF, LRP2, MRAP2* TWIST or CES 8 Weeks
NGS Gene Panel Oculomotor Apraxia APTX, PIK3R5, PNKP, SETX CES 8 Weeks
NGS Gene Panel Oligodontia - Selective tooth agenesis ANKRD11, ATP6V1B2, AXIN2, BCL11B, BCOR, CCBE1, CDH1, CEP152, CLDN1, DSP, DVL1, EDA, EDAR, EDARADD, EVC2, FLNA, GREM2, HNRNPK, HUWE1, IRF6, KCNJ2, KIF1BP, KREMEN1, LRP6, LTBP3, MESD, MSX1, PAX9, PDE3A, PIK3C2A, PITX2, POLR3A, POLR3B, PORCN, PPP1R15B, PTH1R, PTHLH, ROR2, RUNX2, SATB2, SH3BP2, SLC25A24, SMOC2, TP63, UBR1, WNT10A, WNT10B, ZSWIM6 TWIST 8 Weeks
NGS Gene Panel Pancreatitis - Chronic APOA5, APOC2, CASR, CFTR, CPA1, CTRC, GPIHBP1, PRSS1, SPINK1, UBR1, CLDN2, CEK TWIST 8 Weeks
NGS Gene Panel Panhypopituitarism GLI2, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1, SOX2, SOX3, GHR CES 8 Weeks
NGS Gene Panel Parkinson ATP13A2, ATP1A3, ATP6AP2, ATP7B, C19orf12*, DCTN1, DNAJC6, FBXO7, FTL*, FUS, GBA, GCH1, GRN, HTRA2, LRRK2, MAPT*, PANK2, PARK7, PINK1, PLA2G6, PRKN, PRKRA*, RAB39B, SLC20A2, SLC30A10, SLC6A3, SNCA, SNCB, SPR, SYNJ1*, TAF1, TH, TMEM230*, UCHL1, VPS13A*, VPS35, WDR45*, SLC39A14*, PDGFRB, PDGFB, XPR1*, VPS13C TWIST or CES 8 Weeks
NGS Gene Panel Polycystic Kidney ANKS6, BICC1, DNAJB11*, DZIP1L*, ETFA, GANAB*, HNF1B, INVS, JAG1, LRP5, MUC1*, NOTCH2, NPHP3, OFD1, PAX2, PKD1, PKD2, PKHD1, PMM2, PRKCSH, SEC61A1*, SEC63, TMEM67, UMOD TWIST or CES 8 Weeks
NGS Gene Panel Polydactyly - Comprehensive AHI1, AKT3, ALX3, ALX4, ARHGAP31, ARL13B, ARL6, ARMC9, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BHLHA9, BMP4, CANT1, CC2D2A, CCBE1, CCND2, CEP104, CEP120, CEP164, CEP290, CEP41, CHST11, CPLANE1, CSPP1, CTU2, DHCR7, DLL4, DLX5, DLX6, DOCK6, DYNC2H1, DYNC2LI1, EBP, EOGT, EVC, EVC2, FBLN1, FBN1, FBXW11, FGFR2, FLNA, FUZ, GDF5, GLI1, GLI2, GLI3, HOXD13, ICK, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT74, IFT80, IFT81, IHH, INPP5E, INTU, IQCE, KIAA0556, KIAA0586, KIAA0825, KIF14, KIF7, KMT2A, LMBR1, LZTFL1, MAP3K20, MKKS, MKS1, MSX1, MYCN, NEK1, NPHP1, NPHP3, OFD1, PAPSS2, PCNT, PDE6D, PDGFC, PIK3CA, PIK3R2, PITX1, PITX2, ROR2, RPGRIP1L, SALL1, SALL4, SCN1A, SDCCAG8, SETD5, SHH, SLC25A21, SLC26A2, SMO, SOX9, STAG2, TBX3, TCTEX1D2, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TNNT3, TRAF3IP1, TRAPPC6A, TRIM32, TTC21B, TTC8, TWIST1, WDPCP, WDR19, WDR34, WDR35, WDR60, WNT10B, ZNF141, ZSWIM6 TWIST 8 Weeks
NGS Gene Panel Porokeratosis FDPS, MVK, PMVK, MVD TWIST 8 Weeks
NGS Gene Panel Premature ovarian failure BMP15, CYP17A1*, CYP19A1, FOXL2, FSHR, GALT, GNAS, LHCGR, LMNA, NOBOX, NR5A1, POLG, POR, STAG3*, STAR, WT1 TWIST or CES 8 Weeks
NGS Gene Panel Primary Ciliary Dyskinesia (PCD) ARHGEF1, ARMC4, C11ORF70, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFAP298, CFTR, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAH9, DNAI1, DNAI2, DNAL1, DRC1, GAS2L2, GAS8, LRRC6, MCIDAS, NME8, OFD1, POLD1, RPGR, RSPH1, RSPH3, RSPH4A, RSPH9, SCNN1A, SCNN1B, SPAG1, STK36, ZMYND10 TWIST 8 Weeks
NGS Gene Panel Primary Immunodeficiency ACD, ACP5, ACTB, ADA, ADAM17, ADAR, AICDA, AIRE, AK2, ALPI, AP3B1, ARHGEF1, ARPC1B, ATM, ATP6AP1, BACH2, BCL10, BCL11B, BLM, BLNK, BTK, C17ORF62, C1QA, C1QB, C1QC, C1S, C2, C3, CARD11, CARD14, CARD9, CASP10, CASP8, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD46, CD55, CD59, CD70, CD79A, CD79B, CD81, CD8A, CDCA7, CDK9, CEBPE, CECR1, CFB, CFD, CFH, CFI, CFP, CFTR, CHD7, CIITA, CLCN7, CLPB, COLEC11, COPA, CORO1A, CR2, CSF2RA, CSF2RB, CSF3R, CTC1, CTLA4, CTPS1, CTSC, CXCR4, CYBA, CYBB, DBR1, DCLRE1C, DDX58, DGKE, DKC1, DNAJC21, DNASE2, DNMT3B, DOCK2, DOCK8, EFL1, ELANE, EPG5, ERCC6L2, EXTL3, FADD, FAS, FASLG, FCHO1, FERMT3, FOXN1, FOXP3, G6PC3, G6PD, GATA2, GFI1, GINS1, HAX1, HELLS, HYOU1, ICOS, IFIH1, IFNAR2, IFNGR1, IFNGR2, IGLL1, IKBKB, IKZF1, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL17RA, IL17RC, IL1RN, IL21, IL21R, IL23R, IL2RA, IL2RB, IL2RG, IL36RN, IL6ST, IL7R, IRAK4, IRF2BP2, IRF8, ISG15, ITGB2, ITK, JAGN1, JAK1, JAK3, KRAS, LAMTOR2, LAT, LCK, LIG1, LIG4, LPIN2, LRBA, LYST, MAGT1, MALT1, MAP3K14, MASP1, MEFV, MKL1, MOGS, MRE11A, MSN, MTHFD1, MVK, MYD88, MYO5A, NBN, NCF1, NCF2, NCF4, NCSTN, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, NOP10, NRAS, NSMCE3, OFD1, ORAI1, OTULIN, PARN, PEPD, PGM3, PIGA, PIK3CD, PIK3R1, PLCG2, PMS2, PNP, POLD1, POLE, POLE2, POMP, PRF1, PRG4, PRKCD, PRKDC, PSENEN, PSMB8, PSTPIP1, PTPRC, RAB27A, RAC2, RAG1, RAG2, RASGRP1, RBCK1, RECQL4, RELA, RFX5, RFXANK, RFXAP, RHOH, RIPK1, RLTPR, RNASEH2A, RNASEH2B, RNASEH2C, RNF168, RNF31, RORC, RPSA, RTEL1, SAMD9, SAMD9L, SAMHD1, SBDS, SERPING1, SH2D1A, SLC29A3, SLC35C1, SLC37A4, SLC39A7, SLC46A1, SLC7A7, SMARCAL1, SMARCD2, SP110, SPINK5, SPPL2A, SRP54, SRP72, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAP1, TAP2, TAPBP, TBX1, TCF3, TCN2, TERT, TFRC, TGFB1, THBD, TINF2, TMC6, TMC8, TMEM173, TNFAIP3, TNFRSF13B, TNFRSF1A, TNFRSF4, TNFRSF9, TRAF3IP2, TREX1, TRNT1, TTC37, TTC7A, TYK2, UNC119, UNC13D, UNC93B1, UNG, USB1, USP18, VPS13B, VPS45, WAS, WDR1, WIPF1, WRAP53, XIAP, ZAP70, ZBTB24, ZNF341 TWIST 8 Weeks
NGS Gene Panel Pseudohypoaldosteronism CUL3, HSD11B2, KCNJ5, KLHL3, NR3C2, SCNN1A, SCNN1B, SCNN1G, WNK1, WNK4 CES 8 Weeks
NGS Gene Panel Pulmonary Artery Hypertension (PAH) ABCC8, ACVRL1, AQP1, ATP13A3, BMPR1B, BMPR2, CAV1, EIF2AK4, ENG, FOXF1, GDF2, KCNA5, KCNK3, KLF2, NFU1, NOTCH3, RASA1, SARS2, SMAD4, SMAD9, SOX17, STRA6, TBX4 TWIST 8 Weeks
NGS Gene Panel Pyruvate Dehydrogenase Deficiency(PDH) DLAT, DLD, LIAS, MPC1, PDHA1, PDHB, PDHX, PDP1 TWIST or CES 8 Weeks
NGS Gene Panel Rasopathies A2ML1, ACTB, ACTG1, BRAF, CBL, CDC42, FGD1, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NF1 , NRAS, NSUN2, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SHOC2, SOS1 , SOS2 , SPRED1 TWIST 8 Weeks
NGS Gene Panel Renal Malformation ACE, ACTG2, AGT, BMP4, CDC5L, CHD1L, DSTYK, EYA1, FAM58A, FANCB, FOXC2, FREM1, FREM2, GATA3, GREB1L, HNF1B, KYNU, PAX2, PBX1, PUF60, REN, RET, ROBO2, SALL1, SIX1, SIX5, WT1 TWIST 8 Weeks
NGS Gene Panel Renal Tubular Acidosis ATP6V0A4, ATP6V1B1, CA2, SLC4A1, SLC4A4 TWIST or CES 8 Weeks
NGS Gene Panel Retinal Dystrophy ABCA4, ABCC6, ABHD12, ACO2, ADAM9, ADAMTS18, ADGRV1, ADIPOR1, AGBL5, AHI1, AIPL1, ALMS1, ARHGEF18, ARL13B, ARL2BP, ARL3, ARL6, ARMC9, ARSG, ATF6, ATOH7, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C1QTNF5, C8ORF37, CA4, CABP4, CACNA1F, CACNA2D4, CAPN5, CC2D2A, CDH23, CDH3, CDHR1, CEP104, CEP120, CEP164, CEP19, CEP250, CEP290, CEP41, CEP78, CERKL, CFAP410 (C21ORF2), CHM, CIB2, CISD2, CLN3, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL18A1, COL2A1, COL9A1, COL9A2, COL9A3, CPE, CPLANE1 (C5ORF42), CRB1, CRX, CSPP1, CTC1, CTNNA1, CTNNB1, CWC27, CYP4V2, DFNB31 (WHRN), DHX38, DHDDS, DRAM2, DTHD1, EFEMP1, ELOVL4, EMC1, ESPN, EYS, FAM161A, FDXR, FLVCR1, FRMD7, FZD4, GNAT1, GNAT2, GNB3, GNPTG, GPR143, GPR179, GRK1, GRM6, GUCA1A, GUCY2D, HARS, HGSNAT, HK1, HMX1, IDH3A, IDH3B, IFT140, IFT172, IFT27, IFT81, IMPDH1, IMPG1, IMPG2, INPP5E, INVS, IQCB1, JAG1, KCNJ13, KCNV2, KIAA0556, KIAA0586, KIAA0753, KIAA1549, KIF11, KIF7, KIZ, KLHL7, LCA5, LRAT, LRIT3, LRP2, LRP5, LZTFL1, MAK, MERTK, MFN2, MFRP, MFSD8, MKKS, MKS1, MMACHC, MTTP, MVK, MYO7A, NDP, NEK2, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NYX, OAT, OFD1, OPA1, OPA3, OTX2, P3H2, PANK2, PAX2, PCARE (C2ORF71), PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PISD, PITPNM3, PLA2G5, PNPLA6, POC1B, POMGNT1, PRCD, PRDM13, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, RAB28, RAX2, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, REEP6, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, RTN4IP1, SAG, SAMD11, SCAPER, SCLT1, SDCCAG8, SEMA4A, SLC24A1, SLC25A46, SLC7A14, SNRNP200, SPATA7, SPP2, SRD5A3, TCTN1, TCTN2, TCTN3, TEAD1, TIMM8A, TIMP3, TMEM107, TMEM126A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TOPORS, TRAF3IP1, TREX1, TRIM32, TRPM1, TSPAN12, TTC21B, TTC8, TTLL5, TTPA, TUB, TUBB4B, TULP1, USH1C, USH1G, USH2A, VCAN, VPS13B, WDPCP, WDR19, WFS1, YME1L1, ZNF408, ZNF423, ZNF513 TWIST 8 Weeks
NGS Gene Panel Retinal Dystrophy including Nystagmus ABCA4, ABCC6, ABHD12, ACO2, ADAM9, ADAMTS18, ADGRV1, ADIPOR1, AGBL5, AHI1, AIPL1, ALMS1, ARHGEF18, ARL13B, ARL2BP, ARL3, ARL6, ARMC9, ARSG, ATF6, ATOH7, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C1QTNF5, C21ORF2, C2ORF71, C5ORF42, C8ORF37, CA4, CABP4, CACNA1F, CACNA2D4, CAPN5, CC2D2A, CDH23, CDH3, CDHR1, CEP104, CEP120, CEP164, CEP19, CEP250, CEP290, CEP41, CEP78, CERKL, CHM, CIB2, CISD2, CLN3, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL18A1, COL2A1, COL9A1, COL9A2, COL9A3, CPE, CRB1, CRX, CSPP1, CTC1, CTNNA1, CTNNB1, CWC27, CYP4V2, DFNB31, DHDDS, DHX38, DRAM2, DTHD1, EFEMP1, ELOVL4, EMC1, ESPN, EYS, FAM161A, FDXR, FLVCR1, FRMD7, FZD4, GNAT1, GNAT2, GNB3, GNPTG, GPR179, GRK1, GRM6, GUCA1A, GUCY2D, HARS, HGSNAT, HK1, HMX1, IDH3A, IDH3B, IFT140, IFT172, IFT27, IFT81, IMPDH1, IMPG1, IMPG2, INPP5E, INVS, IQCB1, JAG1, KCNJ13, KCNV2, KIAA0556, KIAA0586, KIAA0753, KIAA1549, KIF11, KIF7, KIZ, KLHL7, LCA5, LRAT, LRIT3, LRP2, LRP5, LZTFL1, MAK, MERTK, MFN2, MFRP, MFSD8, MKKS, MKS1, MMACHC, MTTP, MVK, MYO7A, NDP, NEK2, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NYX, OAT, OFD1, OPA1, OPA3, OTX2, P3H2, PANK2, PAX2, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PISD, PITPNM3, PLA2G5, PNPLA6, POC1B, POMGNT1, PRCD, PRDM13, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, RAB28, RAX2, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, REEP6, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, RTN4IP1, SAG, SAMD11, SCAPER, SCLT1, SDCCAG8, SEMA4A, SLC24A1, SLC25A46, SLC7A14, SNRNP200, SPATA7, SPP2, SRD5A3, TCTN1, TCTN2, TCTN3, TEAD1, TIMM8A, TIMP3, TMEM107, TMEM126A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TOPORS, TRAF3IP1, TREX1, TRIM32, TRPM1, TSPAN12, TTC21B, TTC8, TTLL5, TTPA, TUB, TUBB4B, TULP1, USH1C, USH1G, USH2A, VCAN, VPS13B, WDPCP, WDR19, WFS1, YME1L1, ZNF408, ZNF423, ZNF513, NYS2, NYS3, NYS4, NYS5, NYS7, GPR143, NYSAR TWIST 8 Weeks
NGS Gene Panel Retinitis Pigmentosa ABCA4, ABHD12, ADGRA3, ADIPOR1, AGBL5, AHI1, AIPL1, ARHGEF18, ARL2BP, ARL3, ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C1QTNF5, C21ORF2, C2ORF71, C8ORF37, CA4, CACNA1F, CC2D2A, CDH23, CDHR1, CEP290, CERKL, CHM, CLN3, CLRN1, CNGA1, CNGB1, CRB1, CRX, CTNNA1, CWC27, CYP4V2, DHDDS, DHX38, EMC1, EYS, FAM161A, FLVCR1, FSCN2, GNPTG, GUCA1B, GUCY2D, HGSNAT, HK1, IDH3A, IDH3B, IFT140, IFT172, IMPDH1, IMPG2, INPP5E, INVS, IQCB1, KIAA1549, KIZ, KLHL7, LCA5, LRAT, MAK, MERTK, MFRP, MKKS, MVK, NEK2, NEUROD1, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NRL, OAT, OFD1, PCARE, PCDH15, PDE6A, PDE6B, PDE6G, PEX1, PEX2, PEX26, PEX7, PHYH, PITPNM3, PLA2G5, POMGNT1, PRCD, PRKCG, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, REEP6, RGR, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, SAG, SAMD11, SCAPER, SCLT1, SEMA4A, SLC7A14, SNRNP200, SPATA7, SPP2, TOPORS, TRIM32, TRNT1, TTC8, TTPA, TUB, TULP1, USH1C, USH2A, VPS13B, WDR19, WFS1, WHRN, ZNF408, ZNF513 TWIST 8 Weeks
NGS Gene Panel Retinopathy and Optic Atrophy ABCA4, ABCC6, ABHD12, ACBD5, ACO2, ADAM9, ADAMTS18, ADGRV1, AFG3L2, AGBL5, AIPL1, ALMS1, AMACR, ARHGEF18, ARL2BP, ARL3, ARL6, ATAD3A, ATF6, AUH, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BEST1, C12orf65, C19ORF12, C1QTNF5, C21orf2, C2orf71, C8orf37, CA2, CABP4, CACNA1F, CACNA2D4, CDH23, CDH3, CDHR1, CEP250, CEP290, CERKL, CFH, CHM, CIB2, CISD2, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL2A1, COL9A1, CRB1, CRX, CTNNA1, CTNNB1, CTSD, CTSF, CYP1B1, CYP4V2, DGKQ, DHDDS, DHX38, DNAJC19, DNAJC5, DNM1L, DRAM2, DTHD1, EFEMP1, ELOVL4, EMC1, EYS, FAM161A, FDXR, FLVCR1, FOXC1, FSCN2, FZD4, GDF6, GNAT1, GNAT2, GNB3, GPR179, GRK1, GRM6, GRN, GUCA1A, GUCA1B, GUCY2D, HARS, HCN1, HGSNAT, HK1, HMCN1, HMX1, IDH3A, IDH3B, IFT172, IFT27, IFT81, IMPDH1, IMPG1, IMPG2, IQCB1, ITM2B, KCNV2, KCTD7, KIAA1549, KIZ, KLHL7, LAMA1, LCA5, LRAT, LRIT3, LZTFL1, MAK, MECR, MERTK, MFN2, MFRP, MFSD8, MKKS, MKS1, MMACHC, MTPAP, MYO7A, MYOC, NDP, NDUFS1, NEK2, NEUROD1, NMNAT1, NPHP1, NPHP4, NR2E3, NR2F1, NRL, NYX, OAT, OFD1, OPA1, OPA3, OPTN, OR2W3, OTX2, PANK2, PAX2, PAX6, PCDH15, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDZD7, PEX7, PGK1, PHYH, PITPNM3, PITX2, PLA2G5, PLK4, PNPLA6, POC1B, POLG, POMGNT1, PPT1, PRCD, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, RAB28, RAX2, RB1, RBP3, RBP4, RD3, RDH11, RDH12, RDH5, REEP6, RGR, RGS9, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RS1, RTN4IP1, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC25A46, SLC4A7, SLC52A2, SLC7A14, SNRNP200, SNX10, SOX2, SPATA7, SPG7, SPP2, TCTN3, TEAD1, TIMM8A, TIMP3, TMEM126A, TOPORS, TPP1, TRIM32, TRNT1, TRPM1, TSFM, TSPAN12, TTC21B, TTC8, TTLL5, TTPA, TUB, TUBGCP4, TUBGCP6, TULP1, UCHL1, UNC119, USH1C, USH1G, USH2A, VCAN, VSX2, WDPCP, WDR19, WFS1, WHRN, YME1L1, ZNF408, ZNF513, ZNHIT3 TWIST 8 Weeks
NGS Gene Panel Robinow DVL1, DVL3, ROR2, TWIST1, WNT5A, FZD2, NXN TWIST 8 Weeks
NGS Gene Panel Septo-Optic Dysplasia (SOD) GLI2, HESX1, OTX2, PAX6, PROP1, SOX2, SOX3 CES 8 Weeks
NGS Gene Panel Short stature - Comprehensive ACAN, ACTB, ACTG1, AMMECR1*, ARCN1*, ATR, B3GAT3, BCS1L, BRAF, CBL, CCDC8, CDC45*, CDC6, CDT1, CENPJ, CEP152, CEP63, COL27A1*, CREBBP, CUL7, DHCR7, DONSON*, EP300, FGD1, FGFR3, FN1, GH1, GHR, GHRHR, GHSR, GLI2, GNAS, HDAC8, HESX1, HRAS, IDUA, IGF1, IGF1R, IGFALS, IHH, INSR, IRS1, KRAS, LARP7*, LFNG, LHX3, LHX4, LZTR1*, MAP2K1, MAP2K2, NIPBL, NOTCH2, NPR2, NPPC, NRAS, OBSL1, ORC1, ORC4, ORC6, OSGEP*, OTX2, PCNT, PISD*, PITX2, POC1A, POP1, POU1F1, PPP3CA, PRMT7, PROP1, PTPN11, PUF60*, RAD21, RAF1, RALA*, RASA2*, RBBP8, RIT1*, RRAS*, RTTN, SGMS2*, SHOC2, SHOX, SMARCA2, SMARCE1, SMC1A, SMC3, SOS1, SOX11*, SOX2, SOX3, SRCAP, STAT5B, TALDO1, TBX19, TBX2, TBX3, TOP3A*, TRIM37, TRMT10A*, XRCC4 TWIST or CES 8 Weeks
NGS Gene Panel Skeletal Dysplasia with Abnormal Mineralization ALPL, ANKH, AP2S1, B4GALT7, CASR, CLCN5, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, CRTAP, CYP27B1, CYP2R1, DMP1, ENPP1, FAH, FBN1, FGF23, FKBP10, GALNT3, GNA11, MGP, P3H1, PHEX, PLOD2, PLS3, PPIB, PTDSS1, SERPINF1, SGMS2, SLC34A1, SLC34A3, SLC39A13, SLC9A3R1, SNX10, SOX9, TNFRSF11A, TNFRSF11B, VDR, XYLT2, OCRL, KL, FAN TWIST 8 Weeks
NGS Gene Panel Skeletal Dysplasias Core ACAN, ACP5, ADAMTS10, ADAMTSL2, AGPS, ALPL, ANKH, ARSB, ARSE, B3GALT6, B3GAT3, BGN, BMP1, BMP2, BMPR1B, CA2, CANT1, CCN6, CDC6, CDC45, CDKN1C, CDT1, CFAP410, CHST14, CHST3, CLCN7, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CRTAP, CSPP1, CTSK, CUL7, CYP27B1, DDR2, DHCR24, DLL3, DVL1, DVL3, DYM, DYNC2H1, EBP, EIF2AK3, ENPP1, ESCO2, EVC, EVC2, FAM20C, FBN1, FGF23, FGFR1, FGFR2, FGFR3, FKBP10, FLNA, FLNB, FN1, GALNS, GDF5, GLB1, GMNN, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC6, GUSB, HES7, HGSNAT, HSPG2, HYAL1, ICK, IDS, IDUA, IFT140, IFT172, IFT80, IHH, IMPAD1, INPPL1, KAT6B, KIF22, LBR, LEMD3, LFNG, LIFR, LMX1B, LRP5, LTBP2, MAP3K7, MATN3, MESP2, MGP, MMP13, MMP2, MMP9, MYO18B, NAGLU, NEK1, NKX3-2, NPR2, OBSL1, ORC1, ORC4, ORC6, P3H1, PAPSS2, PCNT, PEX5, PEX7, PHEX, PISD, PLOD2, PLS3, PPIB, PTH1R, RIPPLY2, ROR2, RSPRY1, RUNX2, SBDS, SERPINF1, SERPINH1, SGSH, SH3PXD2B, SHOX, SLC26A2, SLC34A3, SLC39A13, SMAD4, SMARCAL1, SOX9, TBCE, TBX6, TCIRG1, TGFB1, TNFRSF11A, TNFRSF11B, TRAPPC2, TRIP11, TRPV4, TTC21B, VDR, WDR19, WDR35, WNT5A, XYLT1 TWIST 8 Weeks
NGS Gene Panel Spherocytosis ANK1, EPB41, EPB42, RHAG, SLC4A1, SPTA1, SPTB CES 8 Weeks
NGS Gene Panel Spondylocostal Dysostosis AGPS, ALPL, ARSE, BMP1, CEP120, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COMP, CRTAP, DLL3, DYNC2H1, EBP, EVC, EVC2, FGFR1, FGFR2, FGFR3, FKBP10, FLNA, FLNB, GNPAT, HES7, HSPG2, IFITM5, IFT172, INPPL1, KIAA0586, LBR, LEPRE1(P3H1), LFNG, LIFR, MESP2, NEK1, PEX7, PLOD2, POR, PPIB, RIPPLY2, RUNX2, SERPINH1, SLC26A2, SLC35D1, SOX9, TBX6, TMEM38B, TRIP11, TRPV4, TTC21B, WDR34, WDR35 TWIST 8 Weeks
NGS Gene Panel Stargardt ABCA4, CNGB3, ELOVL4, PROM1, PRPH2 CES 8 Weeks
NGS Gene Panel Stickler ACTA2, ADAMTS2, ALDH18A1, ATP6V0A2, ATP6V1E1*, ATP7A, B3GALT6, B3GAT3*, B4GALT7, BGN, CBS, CHST14, COL11A1, COL11A2, COL12A1*, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, DSE*, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, LOX, LRP2, LTBP4, MAT2A, MED12, MFAP5*, MYH11, MYLK, NOTCH1, PLOD1, PRDM5, PRKG1*, PYCR1, RIN2, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, VCAN, ZNF469 TWIST or CES 8 Weeks
NGS Gene Panel Thrombocytopenia ABCG5, ABCG8, ACTN1, ADAMTS13, ANKRD26, ARPC1B, CYCS, EFL1, ETV6, FLI1, FLNA, FYB, GATA1, GBA, GFI1B, GP1BA, GP1BB, GP9, HOXA11, ITGA2, ITGA2B, ITGB3, MASTL, MECOM, MPL, MYH9, NBEAL2, PRKACG, RBM8A, RUNX1, SLFN14, SRC, SRP54, THBD, TUBB1, WAS, WIPF1 TWIST 8 Weeks
NGS Gene Panel Treacher Collins DHODH, EFTUD2, EDNRA, POLR1A*, POLR1B*, POLR1C, POLR1D, SF3B4, TCOF1, TXNL4A* TWIST or CES 8 Weeks
NGS Gene Panel Usher syndrome ABHD12, ADGRV1, ARSG*, CDH23, CEP25*, CEP78*, CIB2, CLRN1, DFNB31*, ESPN, HARS, MYO7A, PCDH15, PDZD7, PEX1, PEX6, PRPS1, TUBB4B*, USH1C, USH1G, USH2A TWIST or CES 8 Weeks
NGS Gene Panel Vascular Malformations ACVRL1, ANTXR1, BMPR2, CAV1, CCM2, DOCK6, EIF2AK4, ELMO2, ENG, FOXF1, GATA2, GDF2, GLMN, GNAQ, KCNK3, KDR, KRIT1, MAP3K3, PDCD10, PIK3CA, PTEN, RASA1, SMAD4, SMAD9, SOX18, STAMBP, TEK, GNA11 TWIST 8 Weeks
NGS Gene Panel Visceral Myopathy ACTG2, MYH11, ACTA2, FKNA (FLNA), TYMP, EDNRB, EDN3, SOX10, SGOL1 (SGO1), RAD21, CHRM3, CHRNB2, CHRNB4, MYL9, MYLK, GNA11, MAPK1, PLA2G3, RAMP3, PLA2G12A, PLA2G2C, RAF1, RAMP2, RAMP1, KCNMB4, PLCB2, ADCY3, MAP2K2, MAPK3, PRKCQ, PRKCG, PPP1R12C, GUCY1B3, CACNA1C, KCNMB1, MYLK4, GNA12, GUCY1A2, ADCY8, GNAQ, KCNMA1, CACNA1D, BRAF, ARAF, PLA2G4D, PTGIR, ADCY9, GUCY1A3, ADCY1 TWIST 8 Weeks
NGS Gene Panel Waardenburg Syndrome EDN3, EDNRB, KIT, MITF, PAX3, SNAI2, SOX10 CES 8 Weeks
NGS Gene Panel Xeroderma Pigmentosum DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC CES 8 Weeks
NGS Gene Panel Acral Peeling Skin & Epidermolysis Bullosa ATP2C1, CD151, CDSN, CHST8, COL17A1, COL7A1, CSTA, DSG1, DSG2, DSG4, DSP, DST, EXPH5, FERMT1, FLG2, GRIP1, ITGA3, ITGA6, ITGB4, JUP, KLHL24, KRT1, KRT10, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC, SERPINB8, TGM5 TWIST 8 Weeks
NGS Gene Panel Congenital Erythrocytosis / Familial Polycythemia ANK1, BPGM, CALR, EGLN1, EPAS1, EPB41, EPB42, EPOR, HBA1, HBA2, HBB, HIF1A, JAK2, KCNN4, PIEZO1, PKLR, RHAG, SH2B3, SLC4A1, SPTA1, SPTB, TET2, TET3, VHL TWIST 8 Weeks
Gene Sequencing EDAR - ANHIDROTIC ECTODERMAL DYSPLASIA 3 EDAR Full Sequencing UP TO 6 WEEKS
Gene Sequencing Almost Any Gene - Sequencing of almost any gene Almost Any Gene Sanger Sequencing UP TO 6 WEEKS
Gene Sequencing ABCA4 - STARGARDT DISEASE, TYPE 1 ABCA4 Full Sequencing UP TO 6 WEEKS
Gene Sequencing ABCC8 - HYPERINSULINEMIC, HYPOGLYCEMIA, FAMILIAL, TYPE 1 ABCC8 Full Sequencing UP TO 6 WEEKS
Gene Sequencing ABCD1 - Adrenoleukodystrophy ABCD1 Full Sequencing UP TO 6 WEEKS
Gene Sequencing ACVRL1 - Activin A Receptor, Type II-Like ; Arteriovenous Malformations of the Brain ACVRL1 Full Sequencing UP TO 6 WEEKS
Gene Sequencing ALK - Anaplastic Lymphoma ; Lung Cancer Alveolar Cell Carcinoma ALK Full Sequencing UP TO 6 WEEKS
Gene Sequencing APC - Diagnosis of Familial Adenomatous Polyposis (FAP) APC Full Sequencing UP TO 6 WEEKS
Gene Sequencing POLYPOSIS COLI, ADENOMATOUS APC+MYH NGS 8 weeks
Gene Sequencing -ARSA (metachromatic leucodystrophy (MLD ARSA Full Sequencing UP TO 6 WEEKS
Gene Sequencing ARSB - MUCOPOLYSACCHARIDOSIS TYPE 6, MPS6 ARSB Full Sequencing UP TO 6 WEEKS
Gene Sequencing ARX - X-linked mental retardation and epilepsy ARX Full Sequencing UP TO 6 WEEKS
Gene Sequencing ASPA - CANAVAN DISEASE ASPA Full Sequencing UP TO 6 WEEKS
Gene Sequencing -ASXL1 myelodysplastic syndromes and chronic Smyelomonocytic leukemia ASXL1 Full Sequencing UP TO 6 WEEKS
Gene Sequencing ATM - Ataxia Telangiectasia ATM Full Sequencing UP TO 6 WEEKS
Gene Sequencing ATP7A - Menkes Disease; Occipital Horn Syndrome; Spinal Muscular Atrophy, Distal, X-linked 3 ATP7A Full Sequencing UP TO 6 WEEKS
Gene Sequencing ATP7B - Wilson Disease ATP7B Full Sequencing UP TO 6 WEEKS
Gene Sequencing AVP - DIABETES INSIPIDUS, NEUROHYPOPHYSEAL AVP Full Sequencing UP TO 6 WEEKS
Gene Sequencing BBS2 - BARDET-BIEDL SYNDROME TYPE 2, BBS2 BBS2 Full Sequencing UP TO 6 WEEKS
Gene Sequencing BCKDHB - MSUD - MAPLE SYRUP URINE DISEASE BCKDHB - MSUD Full Sequencing UP TO 6 WEEKS
Gene Sequencing BMPR1A - JUVENILE POLYPOSIS SYNDROME BMPR1A Full Sequencing UP TO 6 WEEKS
Gene Sequencing BMPR2 - Primary Pulmonary Hypertension, PPH1 BMPR2 Full Sequencing UP TO 6 WEEKS
Gene Sequencing BRCA1+2 - Diagnosis of Familial Breast Cancer BRCA1+2 Full Sequencing UP TO 6 WEEKS
Gene Sequencing BRCA1+2 - Diagnosis of Familial Breast Cancer BRCA1/2 NGS UP TO 6 WEEKS
Gene Sequencing CAPN3 - LIMB GIRDLE MUSCULAR DYSTROPHY 2A, LGMD2A CAPN3 Full Sequencing UP TO 6 WEEKS
Gene Sequencing PARATHYROID CARCINOMA; HYPERPARATHYROIDISM 1/2, HRPT1/2 CDC73 Full Sequencing UP TO 6 WEEKS
Gene Sequencing CDH1 - Gastric Cancer CDH1 Full Sequencing UP TO 6 WEEKS
Gene Sequencing CDKN1C - BECKWITH-WIEDEMANN SYNDROME, BWS CDKN1C Full Sequencing UP TO 6 WEEKS
Gene Sequencing CF - Diagnosis of Cystic Fibrosis CF Full Sequencing UP TO 6 WEEKS
Gene Sequencing CFTR - Cystic Fibrosis, CF Congenital Bilateral Absence of Vas Deferens, CBAVD CFTR Full Sequencing UP TO 6 WEEKS
Gene Sequencing MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA CHAT Full Sequencing 3 weeks
Gene Sequencing CHARGE SYNDROME CHD7 Full Sequencing UP TO 6 WEEKS
Gene Sequencing CLCN1 - MYOTONIA CONGENITA (AUTOSOMAL DOMINANT/RECESSIVE) - THOMSEN DISEASE / BECKER MYOTONIA; MYOTONIA LEVIOR CLCN1 Full Sequencing UP TO 6 WEEKS
Gene Sequencing CLCN5 - DENT NEPHROCALCINOSIS / NEPHROLITHIASIS (X-LINKED) CLCN5 Full Sequencing UP TO 6 WEEKS
Gene Sequencing CLRN1 - USHER SYNDROME, TYPE 3, USH3 CLRN1 Full Sequencing UP TO 6 WEEKS
Gene Sequencing COG4 - Congenital disorder of glycosylation, type iij; Oculocerebrorenal syndrome COG4 Full Sequencing UP TO 6 WEEKS
Gene Sequencing COG8 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2H, CDG2H COG8 Full Sequencing UP TO 6 WEEKS
Gene Sequencing COL2A1 - Stickler Syndrome, Type I, Nonsyndromic Ocular; Collagen, Type II, Alpha; Avascular Necrosis of Femoral Head, Primary; Legg-Calve-Perthes Disease; Osteoarthritis Susceptibility COL2A1 Full Sequencing UP TO 6 WEEKS
Gene Sequencing COL3A1 - EHLERS-DANLOS TYPE 4 EDS4 / FIBROMUSCULAR DYSPLASIA COL3A1 Full Sequencing UP TO 6 WEEKS
Gene Sequencing COL4A5 -Alport Syndrome COL4A5 Full Sequencing UP TO 6 WEEKS
Gene Sequencing COMP - osteochondrodysplasias pseudochondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). COMP Full Sequencing UP TO 6 WEEKS
Gene Sequencing LEBER CONGENITAL AMAUROSIS; RETINITIS PIGMENTOSA, TYPE 12; PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY CRB1 Full Sequencing 3 weeks
Gene Sequencing CREBBP - RUBINSTEIN-TAYBI SYNDROME CREBBP Full Sequencing UP TO 6 WEEKS
Gene Sequencing CYP19A1- either increased or decreased aromatase activity CYP19A1 Full Sequencing UP TO 6 WEEKS
Gene Sequencing -CYP1B1 primary congenital glaucoma CYP1B1 Full Sequencing UP TO 6 WEEKS
Gene Sequencing LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION DARS2 Full Sequencing UP TO 6 WEEKS
Gene Sequencing DHCR7 - Smith-Lemli-Opitz Syndrome, SLO DHCR7 Full Sequencing UP TO 6 WEEKS
Gene Sequencing DLD - MAPLE SYRUP URINE DISEASE DLD Full Sequencing UP TO 6 WEEKS
Gene Sequencing DMD - Duchenne Muscular Dystrophy DMD Full Sequencing UP TO 6 WEEKS
Gene Sequencing DOK7 - MYASTHENIA, LIMB-GIRDLE, FAMILIAL DOK7 Full Sequencing UP TO 6 WEEKS
Gene Sequencing ANHIDROTIC ECTODERMAL DYSPLASIA 3 EDAR Full Sequencing UP TO 6 WEEKS
Gene Sequencing - EFNB1 CRANIOFRONTONASAL SYNDROME EFNB1 Full Sequencing UP TO 6 WEEKS
Gene Sequencing ENG - Telangiectasia, Hereditary Hemorrhagig, Type 1 ENG Full Sequencing UP TO 6 WEEKS
Gene Sequencing EP300- RUBINSTEIN-TAYBI SYNDROME EP300 Full Sequencing UP TO 6 WEEKS
Gene Sequencing EXT1 - MULTIPLE EXOSTOSES, TYPE 1, EXT1, HME EXT1 Full Sequencing UP TO 6 WEEKS
Gene Sequencing EXT2 - MULTIPLE EXOSTOSES, TYPE 2, EXT2, HME EXT2 Full Sequencing UP TO 6 WEEKS
Gene Sequencing EYA1 - BRANCHIO-OTO-RENAL SYNDROME, TYPE1, BOR1 EYA1 Full Sequencing UP TO 6 WEEKS
Gene Sequencing HAEMOPHILIA A - FACTOR 8 F8 Full Sequencing UP TO 6 WEEKS
Gene Sequencing F11 - PTA DEFICIENCY F11 Full Sequencing UP TO 6 WEEKS
Gene Sequencing -FBN1 Marfan syndrome FBN1 Full Sequencing UP TO 6 WEEKS
Gene Sequencing FGF10 - Lacrimoauriculodentodigital Syndrome; LADD FGF10 Full Sequencing UP TO 6 WEEKS
Gene Sequencing FGF23 - HYPOPHOSPHATEMIC RICKETS (AUTOSOMAL DOMINANT) FGF23 Full Sequencing UP TO 6 WEEKS
Gene Sequencing FGFR2 - Lacrimoauriculodentodigital Syndrome; LADD FGFR2 Full Sequencing UP TO 6 WEEKS
Gene Sequencing FLNA - HETEROTOPIA, PERIVENTRICULAR (X-LINKED DOMINANT) FLNA Full Sequencing UP TO 6 WEEKS
Gene Sequencing FMF - Hereditary Recurrent Fever FMF Full Sequencing UP TO 6 WEEKS
Gene Sequencing FOXC1 - RIEGER SYNDROME, TYPE 1, RIEG1; PETERS ANOMALY; IRIDOGONIODYSGENESIS SYNDROME, TYPE 2, IRID2 FOXC1 Full Sequencing UP TO 6 WEEKS
Gene Sequencing FREM2 - Fraser Syndrome FREM2 Full Sequencing UP TO 6 WEEKS
Gene Sequencing G6PC - GLYCOGEN STORAGE DISEASE, TYPE 1A, GSD1a G6PC Full Sequencing UP TO 6 WEEKS
Gene Sequencing GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY GAMT Full Sequencing UP TO 6 WEEKS
Gene Sequencing GAL - Pain disorder; Normal pressure hydrocephalus GAL Full Sequencing UP TO 6 WEEKS
Gene Sequencing GALNS - MUCOPOLYSACCHARIDOSIS, TYPE 4A, MPS4A GALNS Full Sequencing UP TO 6 WEEKS
Gene Sequencing GBA - GAUCHER DISEASE, TYPE 1 GBA Full Sequencing UP TO 6 WEEKS
Gene Sequencing GLUTARIC ACIDURIA, TYPE 1 GCDH Full Sequencing 3 weeks
Gene Sequencing GH1 - Isolated Growth Hormone Deficiency, Type IA/ Type IB/ Type II ; Kowarski Syndrome GH1 Full Sequencing UP TO 6 WEEKS
Gene Sequencing GJB1 - CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY (X-LINKED), CMTX GJB1 Full Sequencing UP TO 6 WEEKS
Gene Sequencing GJB2 - Deafness GJB2 Full Sequencing UP TO 6 WEEKS
Gene Sequencing GJB6 - Deafness GJB6 Full Sequencing UP TO 6 WEEKS
Gene Sequencing GLA - FABRY DISEASE GLA Full Sequencing UP TO 6 WEEKS
Gene Sequencing GLDC - NONKETOTIC HYPERGLYCINEMIA GLDC Full Sequencing UP TO 6 WEEKS
Gene Sequencing GNAS1 - Osseous Heteroplasia, Progressive; POH GNAS1 Full Sequencing UP TO 6 WEEKS
Gene Sequencing GRIP1 - Cryptophthalmos; Grip1-related fraser syndrome GRIP1 Full Sequencing UP TO 6 WEEKS
Gene Sequencing HBB - Beta Haemoglobinopathia » Beta Thalassemia Sickle Cell Anemia HBB Full Sequencing UP TO 6 WEEKS
Gene Sequencing HEXA - TAY-SACHS DISEASE HEXA Full Sequencing UP TO 6 WEEKS
Gene Sequencing HLCS - HOLOCARBOXYLASE SYNTHETASE DEFICIENCY HLCS Full Sequencing UP TO 6 WEEKS
Gene Sequencing HOXD13 - Talipes equinovarus; Brachydactyly type d HOXD13 Full Sequencing UP TO 6 WEEKS
Gene Sequencing HRAS - COSTELLO SYNDROME HRAS Full Sequencing UP TO 6 WEEKS
Gene Sequencing PARATHYROID CARCINOMA; HYPERPARATHYROIDISM 1/2, HRPT1/2 HRPT2 Full Sequencing UP TO 6 WEEKS
Gene Sequencing IKBKAP - Familial Dysautonomia IKBKAP Full Sequencing UP TO 6 WEEKS
Gene Sequencing IKBK6 IKBK6 Full Sequencing UP TO 6 WEEKS
Gene Sequencing KCNH2 - long QT syndrome type 2 KCNH2 Full Sequencing UP TO 6 WEEKS
Gene Sequencing DIABETES MELLITUS, PERMANENT NEONATAL; NESIDIOBLASTOSIS KCNJ11 Full Sequencing UP TO 6 WEEKS
Gene Sequencing KCTD7 - progressive myoclonic epilepsy-3 KCTD7 Full Sequencing UP TO 6 WEEKS
Gene Sequencing KHDC3L - Hydatidiform mole, recurrent KHDC3L Full Sequencing UP TO 6 WEEKS
Gene Sequencing KRAS - CANCERS KRAS Full Sequencing UP TO 6 WEEKS
Gene Sequencing L1CAM – Hydrocephalus due to Congenital Stenosis of Aqueduct of Sylvius; Corpus Callosum Agensis; Crash Syndrome; Familial Spastic Paraplegia 1 L1CAM Full Sequencing UP TO 6 WEEKS
Gene Sequencing LRP4 - Syndactyly; Hyperostosis LRP4 Full Sequencing UP TO 6 WEEKS
Gene Sequencing MED12 - Exons 21,22 - X-linked Opitz-Kaveggia syndrome and Lujan-Fryns syndrome MED12 - Exons 21,22 Full Sequencing UP TO 6 WEEKS
Gene Sequencing MEFV - 4 Exons - Mediterranean fever MEFV - 4 Exons Full Sequencing UP TO 6 WEEKS
Gene Sequencing MEN1- Multiple Endocrine Neoplasia, Type 1, MEN1 MEN1 Full Sequencing UP TO 6 WEEKS
Gene Sequencing MID1 - OPITZ SYNDROME MID1 Full Sequencing UP TO 6 WEEKS
Gene Sequencing MLH1 - Diagnosis of Hereditary Nonpolyposis Colorectal Cancer (HNPCC) MLH1 Full Sequencing UP TO 6 WEEKS
Gene Sequencing MNX1 - Currarino syndrome MNX1 Full Sequencing UP TO 6 WEEKS
Gene Sequencing MPZ - Charcot-Marie-Tooth Disease; Dejerine-Sottas Disease; Neuropathy, Congenital Hypomyelinating; Roussy-Levy Syndrome MPZ Full Sequencing UP TO 6 WEEKS
Gene Sequencing MSH2 - Diagnosis of Hereditary Nonpolyposis Colorectal Cancer (HNPCC) MSH2 Full Sequencing UP TO 6 WEEKS
Gene Sequencing MVK - Hereditary Recurrent Fever MVK Full Sequencing UP TO 6 WEEKS
Gene Sequencing MYH - Diagnosis of Familial Adenomatous Polyposis (FAP) MYH Full Sequencing UP TO 6 WEEKS
Gene Sequencing MSH6 - Diagnosis of Hereditary Nonpolyposis Colorectal Cancer (HNPCC) MSH6 Full Sequencing UP TO 6 WEEKS
Gene Sequencing MYOC - GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 1 MYOC Full Sequencing UP TO 6 WEEKS
Gene Sequencing NF-1 - Neurofibromatosis, Type 1, NF1 » Von Recklinghausen Disease NF-1 Full Sequencing UP TO 6 WEEKS
Gene Sequencing NF-2 - Neurofibromatosis Type 2, NF2 NF-2 Full Sequencing UP TO 6 WEEKS
Gene Sequencing NIPBL - CORNELIA DE LANGE SYNDROME NIPBL Full Sequencing UP TO 6 WEEKS
Gene Sequencing NLRP3 - Hereditary Recurrent Fever NLRP3 Full Sequencing UP TO 6 WEEKS
Gene Sequencing NLRP7 - Gestational trophoblastic neoplasm; Hydatidiform mole, recurrent NLRP7 Full Sequencing UP TO 6 WEEKS
Gene Sequencing NOG - tarsal-carpal coalition syndrome, Proximal Symphalangism, Multiple synostoses syndrome, stapes ankylosis NOG Full Sequencing UP TO 6 WEEKS
Gene Sequencing NOTCH3 - CEREBRAL AUTOSOMAL DOMINANT ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, CADASIL NOTCH3 Full Sequencing UP TO 6 WEEKS
Gene Sequencing NPC1 - NIEMANN-PICK DISEASE, TYPE C1, NPC1 NPC1 Full Sequencing UP TO 6 WEEKS
Gene Sequencing NPHS2 - NEPHROTIC SYNDROME, STEROID-RESISTANT, (AUTOSOMAL RECESSIVE), SRN1 NPHS2 Full Sequencing UP TO 6 WEEKS
Gene Sequencing NSD1 - CEREBRAL GIGANTISM NSD1 Full Sequencing UP TO 6 WEEKS
Gene Sequencing NYX - NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A NYX Full Sequencing UP TO 6 WEEKS
Gene Sequencing OPA3 - OPTIC ATROPHY, TYPE 3, OPA3 (AUTOSOMAL RECESSIVE) - Costeff OPA3 Full Sequencing UP TO 6 WEEKS
Gene Sequencing PAH - PHENYLKETONURIA, PKU PAH Full Sequencing UP TO 6 WEEKS
Gene Sequencing PALB2 - Breast Cancer, Fanconi anemia type N PALB2 Full Sequencing UP TO 6 WEEKS
Gene Sequencing PARK2 - Adenocarcinoma of Lung, Somatic; Adenocarcinoma, Ovarian, Somatic; Parkinson Disease, Juvenile, Type 2 PARK2 Full Sequencing UP TO 6 WEEKS
Gene Sequencing PAX2 - RENAL-COLOBOMA SYNDROME PAX2 Full Sequencing UP TO 6 WEEKS
Gene Sequencing PAX3 - WAARDENBURG SYNDROME, TYPE 1, WS1 PAX3 Full Sequencing UP TO 6 WEEKS
Gene Sequencing PAX6 - ANIRIDIA, TYPE 2, AN2; KERATITIS; ECTOPIA PUPILLAE; PETERS ANOMALY; etc. PAX6 Full Sequencing UP TO 6 WEEKS
Gene Sequencing PROPIONIC ACIDEMIA PCCA Full Sequencing 3 weeks
Gene Sequencing PCDH15 - Deafness, Autosomal Recessive 23; Usher Syndrome, Type 1D/F Digenic; Usher Syndrome, Type 1F PCDH15 Full Sequencing UP TO 6 WEEKS
Gene Sequencing PDSS2 - COENZYME Q10 DEFICIENCY PDSS2 Full Sequencing UP TO 6 WEEKS
Gene Sequencing PEX2 - Refsum Disease, Infantile PEX2 Full Sequencing UP TO 6 WEEKS
Gene Sequencing CONGENITAL CENTRAL HYPOVENTILATION SYNDROME PHOX2B Full Sequencing UP TO 6 WEEKS
Gene Sequencing PITX2 - RIEGER SYNDROME, TYPE 1, RIEG1; PETERS ANOMALY; IRIDOGONIODYSGENESIS SYNDROME, TYPE 2, IRID2 PITX2 Full Sequencing UP TO 6 WEEKS
Gene Sequencing PKD1 - autosomal dominant polycystic kidney disease type 1 PKD1 Full Sequencing UP TO 6 WEEKS
Gene Sequencing PKD2 - autosomal dominant polycystic kidney disease type 2 PKD2 Full Sequencing UP TO 6 WEEKS
Gene Sequencing PKHD1 - Polycystic Kidney Disease (Autisomal Recessive) , ARPKD PKHD1 Full Sequencing UP TO 6 WEEKS
Gene Sequencing PLP1 - Pelizaeus-Merzbacher Disease PLP1 Full Sequencing UP TO 6 WEEKS
Gene Sequencing PMS2 - Diagnosis of Hereditary Nonpolyposis Colorectal Cancer (HNPCC) PMS2 Full Sequencing UP TO 6 WEEKS
Gene Sequencing PRNP - Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler disease, Huntington disease-like 1 PRNP Full Sequencing UP TO 6 WEEKS
Gene Sequencing PTEN - Bannayn Myhre Riley Ruvalcava Smith Zonana Syndrome, Cowden Disease PTEN Full Sequencing UP TO 6 WEEKS
Gene Sequencing PYGM - GLYCOGEN STORAGE DISEASE, TYPE 5 PYGM Full Sequencing UP TO 6 WEEKS
Gene Sequencing RASA1 - Arteriovenous malformation; Parkes weber syndrome RASA1 Full Sequencing UP TO 6 WEEKS
Gene Sequencing RB1 - RETINOBLASTOMA RB1 Full Sequencing UP TO 6 WEEKS
Gene Sequencing HIRSCHSPRUNG DISEASE, TYPE 1; RENAL AGENESIS; MTC; MULTIPLE ENDOCRINE NEOPLASIA, TYPE 2A/B, MEN2A/B RET Full Sequencing 3 weeks
Gene Sequencing RPE65 - RETINITIS PIGMENTOSA, TYPE 20, RP20 RPE65 Full Sequencing UP TO 6 WEEKS
Gene Sequencing GEFS+; SEVERE MYOCLONIC EPILEPSY OF INFANCY; ICEGTC; SMEIB SCN1A Full Sequencing UP TO 6 WEEKS
Gene Sequencing SCN9A - ERYTHERMALGIA, PRIMARY; INDIFFERENCE TO PAIN, CONGENITAL (AUTOSOMAL RECESSIVE); PAROXYSMAL EXTREME PAIN DISORDER SCN9A Full Sequencing UP TO 6 WEEKS
Gene Sequencing SDHB - Paragangliomas and Pheochromocytoma SDHB Full Sequencing UP TO 6 WEEKS
Gene Sequencing SDHD -Hereditary Paraganglioma SDHD Full Sequencing UP TO 6 WEEKS
Gene Sequencing SEPSECS  (PCCA) - PROPIONIC ACIDEMIA SEPSECS  (PCCA) Full Sequencing UP TO 6 WEEKS
Gene Sequencing SERPINA1 - emphysema or liver disease SERPINA1 Full Sequencing UP TO 6 WEEKS
Gene Sequencing SIX5 - BRANCHIO-OTO-RENAL SYNDROME, TYPE 2, BOR2 SIX5 Full Sequencing UP TO 6 WEEKS
Gene Sequencing SLC26A3 - Congenital Chloride Diarrhea SLC26A3 Full Sequencing UP TO 6 WEEKS
Gene Sequencing SMAD4 - Juvenile Polyposis SMAD4 Full Sequencing UP TO 6 WEEKS
Gene Sequencing SMARCB1 - Rhabdoid tumor; Atypical teratoid rhabdoid tumor SMARCB1 Full Sequencing UP TO 6 WEEKS
Gene Sequencing SMPD1 - NIEMANN-PICK DISEASE, TYPE A & B SMPD1 Full Sequencing UP TO 6 WEEKS
Gene Sequencing SOX10 - WAARDENBURG-SHAH SYNDROME SOX10 Full Sequencing UP TO 6 WEEKS
Gene Sequencing STK11 - Peutz-Jeghers Syndrome, PJS » Hamartous Intestinal Polyposis STK11 Full Sequencing UP TO 6 WEEKS
Gene Sequencing TBX3 - ulnar-mammary syndrome TBX3 Full Sequencing UP TO 6 WEEKS
Gene Sequencing TBX5 - Holt-Oram Syndrome TBX5 Full Sequencing UP TO 6 WEEKS
Gene Sequencing TCOF1 - Treacher Collins Syndrome 1 TCOF1 Full Sequencing UP TO 6 WEEKS
Gene Sequencing TERC - Autosomal Dominant Dyskeratosis Congenita TERC Full Sequencing UP TO 6 WEEKS
Gene Sequencing TERT - Dyskeratosis Congenita, Idiopathic Pulmonary Fibrosis TERT Full Sequencing UP TO 6 WEEKS
Gene Sequencing TFAP2A - Branchiooculofacial Syndrome TFAP2A Full Sequencing UP TO 6 WEEKS
Gene Sequencing TGFBR1 - LOEYS-DIETZ SYNDROME TGFBR1 Full Sequencing UP TO 6 WEEKS
Gene Sequencing TGFBR2 - MARFAN SYNDROME, TYPE 2, MFS2; LOEYS-DIETZ SYNDROME TGFBR2 Full Sequencing UP TO 6 WEEKS
Gene Sequencing THAP1 - DYSTONIA 6, DYT6 THAP1 Full Sequencing UP TO 6 WEEKS
Gene Sequencing TMC1 - DEAFNESS, DFNA36; DEAFNESS, DFNB7 TMC1 Full Sequencing UP TO 6 WEEKS
Gene Sequencing TMEM216 - Joubert syndrome 2; Meckel syndrome type 2 TMEM216 Full Sequencing UP TO 6 WEEKS
Gene Sequencing TNFRSF1A - HIBERNIAN FEVER, FAMILIAL TNFRSF1A Full Sequencing UP TO 6 WEEKS
Gene Sequencing TP53 - Li-Fraumeni Syndrome; Osteosarcoma; Breast Cancer, Familial; ;Pediatric Adrenocortical Carcinoma TP53 Full Sequencing UP TO 6 WEEKS
Gene Sequencing TPMT- Pharmacogenetics TPMT Full Sequencing UP TO 6 WEEKS
Gene Seuencing TSC1 - Tuberous Sclerosis TSC1 Full Sequencing UP TO 6 WEEKS
Gene Sequencing TSC2 - Tuberous Sclerosis TSC2 Full Sequencing UP TO 6 WEEKS
Gene Sequencing TSC1+2 - TUBEROUS SCLEROSIS TSC1+2 Full Sequencing UP TO 6 WEEKS
Gene Sequencing TRAPS - Hereditary Recurrent Fever TRAPS Full Sequencing UP TO 6 WEEKS
Gene Sequencing ANGELMAN SYNDROME, AS UBE3A Full Sequencing 3 weeks
Gene Sequencing UMOD - MEDULLARY CYSTIC KIDNEY DISEASE 2, MCKD2; FAMILIAL JUVENILE HYPERURICEMIC NEPHROPATHY, HNFJ UMOD Full Sequencing UP TO 6 WEEKS
Gene Sequencing UPK3A - Ovarian brenner tumor; Upk3a-related renal adysplasia UPK3A Full Sequencing UP TO 6 WEEKS
Gene Sequencing VDR - VITAMIN D-DEPENDENT RICKETS, TYPE 2A VDR Full Sequencing UP TO 6 WEEKS
Gene Sequencing VHL - Von Hippel-Lindau Syndrome VHL Full Sequencing UP TO 6 WEEKS
Gene Sequencing ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD WISP3 Full Sequencing UP TO 6 WEEKS
Gene Sequencing WT1 - WILMS TUMOR 1 WT1 Full Sequencing UP TO 6 WEEKS
Gene Sequencing ZEB1 - Corneal dystrophy, posterior polymorphous, 3; Corneal dystrophy, fuchs endothelial, 6 ZEB1 Full Sequencing UP TO 6 WEEKS
Gene Sequencing ZEB2 - Mowat-Wilson Syndrome ZEB2 Full Sequencing UP TO 6 WEEKS
Gene Sequencing ZIC3 - HETEROTAXY, VISCERAL (X-LINKED) ZIC3 Full Sequencing UP TO 6 WEEKS
Special Tests  FMR1 - FRAGILE X SYNDROME, FRAXA FMR1 Asuragen UP TO 6 WEEKS
Pharmacogenetics 5FU - Sequencing - 1 polymorphism - Assessment of 5-Fluorouracil sensitivity DPYD Sequencing UP TO 6 WEEKS
Pharmacogenetics 5FU - Sequencing - 5 polymorphisms- Assessment of 5-Fluorouracil sensitivity DPYD Sequencing UP TO 6 WEEKS
Pharmacogenetics ClopidoRisk - Assessment of Clopidogrel (Plavix) responsiveness CYP2C19 / ABCB1 ELISA-based SNP Detection UP TO 6 WEEKS
Pharmacogenetics IrinoRisk - Assessment of Irinotecan toxicity UGT1A1 Fragment Analysis UP TO 6 WEEKS
Pharmacogenetics TamoxiRisk - Assessment of Tamoxifen responsiveness CYP2D6 Sequencing UP TO 6 WEEKS
Pharmacogenetics ThromboRisk - Predisposition to Thrombosis Factor V / MTHFR / Prothrombin ELISA-based SNP Detection UP TO 6 WEEKS
Pharmacogenetics WarfaRisk - Assist in Warfarin (Coumadin) dosage determination CYP2C9 / VKORC1 ELISA-based SNP Detection UP TO 6 WEEKS
Special Tests BRCA1+2 - Ashkenazi - Diagnosis of Familial Breast Cancer - 3 Ashkenazi mutations BRCA1+2 ELISA-based SNP Detection UP TO 6 WEEKS
MLPA Tests Y Deletion - Diagnosis of micro-deletions on chromosome Y that may cause fertility problems Various MLPA UP TO 6 WEEKS
Special Tests Celiac Disease - Screening for HLA genes that predispose to Celiac Disease HLA DQ2 / DQ8 SSP UP TO 6 WEEKS
Special Tests Postnatal Diagnosis - Diagnosis of one known mutation Various Sequencing UP TO 6 WEEKS
Special Tests Prenatal Diagnosis - Diagnosis of known mutation/s in one gene Various UP TO 6 WEEKS
MLPA Tests BRCA1+2 - deletion/duplication - Diagnosis of Familial Breast Cancer BRCA1+2 MLPA UP TO 6 WEEKS
MLPA Tests DMD - deletion/duplication - Diagnosis of Duchenne Muscular Dystrophy (DMD) Dystrophin MLPA UP TO 6 WEEKS
MLPA Tests SMA - deletion/duplication - Diagnosis of Spinal Muscular Atrophy (SMA) SMN1 - Exon 7+ 8 MLPA UP TO 6 WEEKS
MLPA Tests FAP - deletion/duplication - Diagnosis of Familial Adenomatous Polyposis (FAP) APC / MYH MLPA UP TO 6 WEEKS
MLPA Tests HNPCC - deletion/duplication - Diagnosis of Hereditary Nonpolyposis Colorectal Cancer (HNPCC) MSH6 / PMS2 / MSH2 / MLH1 MLPA UP TO 6 WEEKS
MLPA Tests MLPA Prenatal (long gene) - Diagnosis of deletion/duplication of long genes (MRC list) Various MLPA UP TO 6 WEEKS
MLPA Tests MLPA Prenatal (short gene) - Diagnosis of deletion/duplication of short genes (MRC list) Various MLPA UP TO 6 WEEKS
MLPA Tests MLPA other genes (long gene) - Diagnosis of deletion/duplication of long genes (MRC list) Various MLPA UP TO 6 WEEKS
MLPA Tests MLPA other genes (short gene) - Diagnosis of deletion/duplication of short genes (MRC list) Various MLPA UP TO 6 WEEKS