Clinical AnyPanel
Test Description
The AnyPanel® Test includes both sequencing and deletion/duplication (CNV) analysis for all coding regions of the provider-selected genes (unless otherwise noted). All analysis is performed utilizing next-generation sequencing (NGS) technology. All variants are classified according to American College of Genetics and Genomics (ACMG) guidelines.
DMD gene sequencing
Comprehensive Eye Disorders Panel
ABCA4, ABHD12, ADAM9, ADGRV1, AHI1, AIPL1, ALMS1, ARL13B, ARL6, ATP13A2, B3GLCT, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BEST1, BMP4, C10orf11, C1QTNF5, C2orf71, C5orf42, C8orf37, CA4, CABP4, CACNA1F, CACNA2D4, CC2D2A, CDH23, CDH3, CDHR1, CEP290, CEP41, CERKL, CHM, CIB2, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL2A1, COL4A1, COL9A1, COL9A2, CRB1, CRX, CTSD, CYP1B1, CYP27A1, CYP4V2, DHDDS, EFEMP1, ELOVL4, EYS, FAM161A, FLVCR1, FOXC1, FOXE3, FRAS1, FREM1, FREM2, FSCN2, FZD4, GNAT1, GNAT2, GPR143, GPR179, GRIP1, GRM6, GRN, GUCA1A, GUCA1B, GUCY2D, HARS, HCCS, IDH3B, IMPDH1, IMPG2, INVS, IQCB1, KCNJ13, KCNV2, KCTD7, KIF7, KLHL7, LCA5, LRAT, LRIT3, LRP5, LZTFL1, MAK, MERTK, MFN2, MFRP, MFSD8, MKKS, MKS1, MTTP, MYO7A, MYOC, NDP, NPHP1, NPHP3, NPHP4, NR2E3, NRL, NYX, OAT, OCA2, OCRL, OFD1, OPA1, OPA3, OTX2, PAX6, PCDH15, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PEX7, PHYH, PITPNM3, PITX2, PITX3, PLA2G5, PPT1, PRCD, PROM1, PRPF3, PRPF31, PRPF6, PRPF8, PRPH2, RAX2, RBP3, RBP4, RD3, RDH12, RDH5, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC24A5, SLC45A2, SMOC1, SNRNP200, SOX2, SPATA7, STRA6, TCTN1, TCTN2, TCTN3, TIMM8A, TIMP3, TMEM126A, TMEM216, TMEM237, TMEM67, TOPORS, TPP1, TRIM32, TRPM1, TSPAN12, TTC21B, TTC8, TULP1, TYR, TYRP1, UNC119, USH1C, USH1G, USH2A, VAX1, VCAN, VSX2, WDPCP, WFS1, WHRN, WT1, ZNF423, ZNF513
Comprehensive Pulmonary Disease Panel
ABCA3, ACVRL1, AP3B1, ASCL1, BDNF, BLOC1S3, BLOC1S6, BMPR2, CCDC39, CCDC40, CFTR, CSF2RA, DNAAF1, DNAAF2, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DOCK8, DTNBP1, EDN3, EFEMP2, ELMOD2, ELN, ENG, FBLN5, FLCN, GDNF, HPS1, HPS3, HPS4, HPS5, HPS6, LTBP4, NME8, PHOX2B, RET, RSPH4A, RSPH9, SCNN1A, SCNN1B, SCNN1G, SERPINA1, SFTPB, SFTPC, SFTPD, SMAD9, STAT3, TERT, TSC1, TSC2
Cardiomyopathy and Skeletal Muscle Disease Panel
ABCC9, ACADVL, ACTA1, ACTC1, ACTN2, AGL, ALMS1, ANKRD1, ANO5, ATP2A1, B3GALNT2, B4GAT1, BAG3, BIN1, CACNA1C, CALR3, CAPN3, CAV3, CCDC78, CFL2, CHKB, CHRM2, CNTN1, COL12A1, COL6A1, COL6A2, COL6A3, CPT2, CRYAB, CSRP3, CTF1, CTNNA3, DAG1, DES, DMD, DNAJB6, DNAJC19, DNM2, DOLK, DPM1, DPM2, DPM3, DSC2, DSG2, DSP, DTNA, DYSF, ELAC2, EMD, EYA4, FHL1, FHL2, FKBP14, FKRP, FKTN, FLNC, GAA, GATA4, GATA6, GATAD1, GLA, GMPPB, GNE, HCN4, HNRNPDL, ILK, ISPD, ITGA7, JPH2, JUP, KBTBD13, KLHL40, KLHL41, LAMA2, LAMA4, LAMP2, LARGE1, LDB3, LIMS2, LMNA, LMOD3, LRRC10, MATR3, MEGF10, MTM1, MTO1, MYBPC3, MYF6, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOT, MYOZ2, MYPN, NEB, NEBL, NEXN, NKX2-5, NPPA, PDLIM3, PKP2, PLEC, PLEKHM2, PLN, PNPLA2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PRDM16, PRKAG2, RAF1, RBM20, RYR1, RYR2, SCN5A, SDHA, SELENON, SGCA, SGCB, SGCD, SGCG, SLC22A5, SQSTM1, STAC3, STIM1, SUN1, SUN2, SYNE1, SYNE2, TAZ, TCAP, TGFB3, TIA1, TMEM43, TMEM5, TMEM70, TMPO, TNNC1, TNNI3, TNNT1, TNNT2, TNPO3, TOR1AIP1, TPM1, TPM2, TPM3, TRAPPC11, TRIM32, TTN, TTR, TXNRD2, VCL, VCP
AnyGene® Test
Comprehensive Hearing Loss Panel
ABHD12, ACTB, ACTG1, ADCY1, ADGRV1, AIFM1, ALMS1, ANKH, ATP6V1B1, BDP1, BSND, CABP2, CACNA1D, CCDC50, CD151, CD164, CDC14A, CDH23, CEACAM16, CEP250, CHD7, CIB2, CLDN14, CLIC5, CLPP, CLRN1, COCH, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, CRYM, DCDC2, DIABLO, DIAPH1, DIAPH3, DNMT1, DSPP, EDN3, EDNRB, ELMOD3, EPS8, ERAL1, ESPN, ESRRB, EYA1, EYA4, FGF3, FOXI1, GATA3, GIPC3, GJA1, GJB2, GJB3, GJB6, GPSM2, GRHL2, GRXCR1, GSDME, HARS1, HARS2, HGF, HOMER2, HSD17B4, ILDR1, KARS1, KCNE1, KCNJ10, KCNQ1, KCNQ4, KITLG, LARS2, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MCM2, MIR96, MITF, MSRB3, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NDP, NLRP3, OPA1, OSBPL2, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PDZD7, PJVK, PMP22, PNPT1, POLR1D, POU3F4, POU4F3, PRPS1, PTPRQ, RDX, RIPOR2, S1PR2, SALL1, SEMA3E, SERPINB6, SIX1, SIX5, SLC12A1, SLC17A8, SLC26A4, SLC26A5, SLC33A1, SLITRK6, SMPX, SNAI2, SOX10, SOX2, SYNE4, TBC1D24, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TMC1, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TSPEAR, TWNK, USH1C, USH1G, USH2A, WFS1, WHRN
BRCA1 Del/Dup Testing by MLPA
BRCA1
ABCD1 Gene Test
ABCD1
Comprehensive Brain Malformations Panel
ACTB, ACTG1, ADGRG1, AHI1, AKT3, ARFGEF2, ARL13B, ARX, ASPM, ATP6V0A2, ATP7A, B3GALNT2, B3GNT1, B9D1, C5orf42, CASK, CC2D2A, CCND2, CEP290, CEP41, CHMP1A, CLP1, CSPP1, CUL4B, DCX, DYNC1H1, ERMARD, EXOSC3, FAT4, FKRP, FKTN, FLNA, GMPPB, GPHN, GPSM2, IFT172, INPP5E, ISPD, KIAA1279, KIF2A, KIF5C, KIF7, LAMB1, LAMC3, LARGE, MKS1, MOCS1, MOCS2, NDE1, NPHP1, NPHP3, OCLN, OFD1, OPHN1, PAFAH1B1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PQBP1, RAB18, RAB3GAP1, RAB3GAP2, RARS2, RELN, RPGRIP1L, RTTN, SEPSECS, SRD5A3, SRPX2, TBC1D20, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM5, TMEM67, TSEN2, TSEN34, TSEN54, TTC21B, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, VLDLR, VPS53, VRK1, WDR62
SMN1 Full Gene Sanger Sequencing
Retinitis Pigmentosa Panel
ABCA4, AIPL1, BBS1, BEST1, C1QTNF5, C2orf71, C8orf37, CA4, CERKL, CHM, CLN3, CLRN1, CNGA1, CNGB1, CRB1, CRX, CYP4V2, DHDDS, EYS, FAM161A, FLVCR1, FSCN2, GUCA1B, GUCY2D, IDH3B, IMPDH1, IMPG2, KLHL7, LRAT, MAK, MERTK, NR2E3, NRL, OFD1, PDE6A, PDE6B, PDE6G, PRCD, PROM1, PRPF3, PRPF31, PRPF6, PRPF8, PRPH2, RBP3, RBP4, RDH12, RGR, RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RPGRIP1, SAG, SEMA4A, SNRNP200, SPATA7, TOPORS, TTC8, TULP1, USH2A, ZNF513
Ehlers-Danlos Syndrome Panel
COL3A1, COL5A1, COL5A2
Comprehensive Arrhythmia Panel
ABCC9, ACTN2, AKAP9, ANK2, ANKRD1, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CTNNA3, DEPDC5, DES, DSC2, DSG2, DSP, EMD, FLNC, GJA5, GPD1L, HCN4, JUP, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK3, KCNQ1, KCNQ2, KCNQ3, KCNT1, LDB3, LMNA, MYL4, NKX2-5, NPPA, PCDH19, PDLIM3, PKP2, PLN, PRKAG2, PRRT2, RANGRF, RBM20, RYR2, SCN10A, SCN1A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCN8A, SCN9A, SLC2A1, SLMAP, SNTA1, TGFB3, TMEM43, TNNI3, TNNT2, TRDN, TRPM4, TTN
AnyPanel® Test
BRCA2/CHEK2 Del/Dup Testing by MLPA
BRCA2, CHEK2
AGL gene sequencing
Comprehensive Epilepsy Panel
ADSL, ALDH7A1, ALG13, ARHGEF9, ARID1B, ARX, ASAH1, ATP1A2, ATP6AP2, ATP7A, ATRX, CACNA1A, CASK, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CREBBP, CSTB, CTSD, DNAJC5, DNM1, DYRK1A, EEF1A2, EHMT1, EPM2A, FOLR1, FOXG1, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GATM, GOSR2, GPHN, GRIN1, GRIN2A, GRIN2B, HNRNPU, IQSEC2, KANSL1, KCNB1, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, LGI1, MAGI2, MBD5, MECP2, MEF2C, MFSD8, MOCS1, MOCS2, NHLRC1, NR2F1, NRXN1, OPHN1, PCDH19, PHF6, PIGA, PIGO, PIGV, PLCB1, PNKP, PNPO, POLG, PPT1, PRICKLE1, PRRT2, QARS1, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SLC13A5, SLC25A22, SLC2A1, SLC6A8, SLC9A6, SMC1A, SPTAN1, STXBP1, SYNGAP1, TBC1D24, TCF4, TK2, TPP1, TSC1, TSC2, UBE3A, WDR45, WWOX, ZEB2
SMN2 Copy Number Test
Hereditary Anemia Panel
ABCG5, ABCG8, AK1, ALAS2, ALDOA, ANK1, ATP11C, CDAN1, CDIN1, COL4A1, CYB5R3, EPB41, EPB42, G6PD, GATA1, GCLC, GPI, GPX1, GSR, GSS, GYPC, HK1, KCNN4, KIF23, LPIN2, NT5C3A, PFKM, PGK1, PIEZO1, PKLR, RHAG, RPL11, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, SEC23B, SLC2A1, SLC4A1, SLCO1B1, SLCO1B3, SPTA1, SPTB, TPI1, UGT1A1, UGT1A6, UGT1A7, XK
Comprehensive Cardiomyopathy Panel
ABCC9, ACADVL, ACTC1, ACTN2, AGK, AGL, ALMS1, ALPK3, BAG3, BRAF, CACNA1C, CAV3, CBL, CPT2, CRYAB, CSRP3, CTNNA3, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, DTNA, ELAC2, EMD, EYA4, FHL1, FHOD3, FKRP, FKTN, FLNC, GAA, GATA6, GATAD1, GLA, HCN4, HRAS, JPH2, JUP, KRAS, LAMA4, LAMP2, LDB3, LMNA, LZTR1, MAP2K1, MAP2K2, MIB1, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NDUFAF1, NEXN, NPPA, NRAS, PKP2, PLN, PRDM16, PRKAG2, PTPN11, RAF1, RASA1, RBM20, RIT1, RYR2, SCN5A, SDHA, SGCD, SHOC2, SLC22A5, SOS1, SOS2, SPRED1, TAFAZZIN, TCAP, TGFB3, TMEM43, TMEM70, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, TXNRD2, VCL
MLH1/MSH2 Del/Dup Testing by MLPA
MLH1, MSH2
ARSB Gene Test
FMR1 Triplet Repeat (CGG) Testing
Spastic Paraplegia Panel
ALDH18A1, ALS2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARL6IP1, ATL1, ATP13A2, B4GALNT1, BSCL2, C19ORF12, CCT5, CYP2U1, CYP7B1, DDHD1, DDHD2, ENTPD1, ERLIN1, ERLIN2, FA2H, GBA2, GJC2, HSPD1, IBA57, KIF1A, KIF1C, KIF5A, MAG, MTRFR, NIPA1, NT5C2, PGAP1, PLP1, PNPLA6, REEP1, REEP2, RTN2, SACS, SLC16A2, SLC33A1, SPART, SPAST, SPG11, SPG21, SPG7, TECPR2, TFG, TTR, VAMP1, VPS37A, WASHC5, ZFYVE26
Charcot-Marie-Tooth Disease Panel
AARS, AIFM1, ARHGEF10, BSCL2, COX6A1, DHTKD1, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, FAM134B, FBLN5, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HARS, HINT1, HK1, HOXD10, HSPB1, HSPB8, IGHMBP2, IKBKAP, INF2, KARS, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MORC2, MPZ, MTMR2, NDRG1, NEFL, PDK3, PLEKHG5, PMP22, PRPS1, PRX, RAB7A, REEP1, SBF1, SBF2, SH3TC2, SLC12A6, SLC25A46, SPG11, SURF1, TFG, TRIM2, TRPV4, VCP, YARS
Hereditary Hemochromatosis Panel
HAMP, HFE, HJV, SLC40A1, TFR2
Dilated Cardiomyopathy Panel
ABCC9, ACTC1, ACTN2, ALMS1, BAG3, CAV3, CRYAB, CSRP3, DES, DMD, DOLK, DSC2, DSG2, DSP, EMD, EYA4, FKRP, FKTN, FLNC, GATAD1, JUP, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYPN, NEXN, NPPA, PLN, PRDM16, RAF1, RBM20, RYR2, SCN5A, SGCD, SLC22A5, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, TXNRD2, VCL
MSH6/MUTYH/EPCAM Del/Dup Testing by MLPA
EPCAM, MSH6, MUTYH
ATP7B gene sequencing
Comprehensive DMD Testing
Nephrotic Syndrome Panel
ACTN4, ANLN, ARHGDIA, CD2AP, COL4A3, COL4A4, COL4A5, COQ2, COQ6, COQ8B, CRB2, DGKE, EMP2, INF2, ITGA3, LAMB2, LMX1B, MEFV, MYH9, MYO1E, NPHS1, NPHS2, PDSS2, PLCE1, PTPRO, SCARB2, SMARCAL1, TRPC6, TTC21B, WT1
Long QT Syndrome Panel
AKAP9, ANK2, CACNA1C, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1, TRDN
PMS2 Del/Dup Testing by MLPA
CYP21A2 Gene Test
CYP21A2
Comprehensive Muscular Dystrophy Panel
ANO5, ATP7A, B3GALNT2, B4GAT1, CAPN3, CAV3, CHKB, COL12A1, COL6A1, COL6A2, COL6A3, DAG1, DES, DMD, DNAJB6, DPM1, DPM2, DPM3, DYSF, EMD, FHL1, FKRP, FKTN, GAA, GMPPB, HNRNPDL, ISPD, ITGA7, LAMA2, LARGE1, LIMS2, LMNA, MYOT, PLEC, PNPLA2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, SMCHD1, SUN1, SUN2, SYNE1, SYNE2, TCAP, TMEM43, TMEM5, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN
Osteogenesis imperfecta gene panel (COL1A1, COL1A2)
COL1A1, COL1A2
Marfan/TAAD Panel
ACTA2, BGN, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, LOX, MED12, MFAP5, MYH11, MYLK, NOTCH1, PRKG1, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2
Colorectal Cancer Panel
APC, ATM, AXIN2, BMPR1A, CDH1, CHEK2, EPCAM, GREM1, MLH1, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, RNF43, SMAD4, STK11, TP53
G6PC gene sequencing
Comprehensive Neuromuscular Disorders Panel
ACTA1, AGRN, ALG14, ALG2, ANO5, ASAH1, ATP2A1, ATP7A, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, CACNA1S, CAPN3, CAV3, CCDC78, CFL2, CHAT, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CLCN1, CNTN1, COL12A1, COL6A1, COL6A2, COL6A3, COLQ, CPT2, CRYAB, DAG1, DDC, DES, DMD, DNAJB6, DNM2, DOK7, DPAGT1, DPM1, DPM2, DPM3, DYNC1H1, DYSF, EMD, FHL1, FKBP14, FKRP, FKTN, FLNC, GAA, GFPT1, GMPPB, GNE, GPHN, HNRNPA2B1, HNRNPDL, HSPB8, IGHMBP2, ISPD, ITGA7, KBTBD13, KCNJ2, KLHL40, KLHL41, LAMA2, LAMB2, LAMP2, LARGE1, LDB3, LIMS2, LMNA, LMOD3, LRP4, MATR3, MEGF10, MOCS1, MOCS2, MTM1, MUSK, MYF6, MYH2, MYH7, MYL2, MYOT, MYPN, NEB, PHKA1, PLEC, PLEKHG5, PMP22, PNPLA2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PREPL, PYGM, RAPSN, RYR1, SCN4A, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SMCHD1, SNAP25, SQSTM1, STAC3, STIM1, SUN1, SUN2, SYNE1, SYNE2, TAZ, TCAP, TIA1, TK2, TMEM43, TMEM5, TNNI2, TNNT1, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRPV4, TTN, UBA1, VCP, VMA21, VRK1
PKD1/PKD2 Del/Dup Testing by MLPA
Comprehensive Cancer Panel
AIP, ALK, ANKRD26, APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CHEK2, DDX41, DICER1, DIS3L2, EGFR, EPCAM, ETV6, EXT1, EXT2, EZH2, FANCC, FH, FLCN, GATA2, GPC3, GREM1, HOXB13, HRAS, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PHOX2B, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD51C, RAD51D, RB1, RECQL4, RET, RNF43, RUNX1, SAMD9, SAMD9L, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, SRP72, STK11, SUFU, TERC, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WRN, WT1
GAA Gene Test
Comprehensive Neuropathies Panel
AARS, AIFM1, ATL1, ATL3, ATP7A, BICD2, BSCL2, CCT5, CHCHD10, DCTN1, DNAJB2, DNM2, DNMT1, DST, DYNC1H1, EGR2, FAM134B, FBXO38, FGD4, FIG4, FLRT1, GAN, GARS, GDAP1, GJB1, GNB4, HARS, HINT1, HSPB1, HSPB3, HSPB8, IGHMBP2, IKBKAP, INF2, KIF1A, LAS1L, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MORC2, MPZ, MTMR2, NDRG1, NEFL, NGF, NTRK1, PDK3, PLEKHG5, PMP22, PRDM12, PRPS1, PRX, RAB7A, REEP1, SBF2, SCN10A, SCN11A, SCN9A, SETX, SH3TC2, SIGMAR1, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SPG11, SPTLC1, SPTLC2, SURF1, TFG, TRIM2, TRPV4, TTR, UBA1, VAPB, VRK1, WNK1, YARS
Test of Amino Acid, Acylcarnitine and Succinylacetone
Hereditary Breast and Ovarian Cancer Syndrome Panel
BRCA1, BRCA2
GALC Gene Test
DMD Carrier Del/Dup Testing
Test of Hereditary Angioedema
Multiple Endocrine Neoplasia/ Paraganglioma/Pheochromocytoma Panel
FH, MAX, MEN1, NF1, RET, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL
GALC 30kb deletion Assay
DMD Del/Dup Testing
Test of MTHFR gene for individualized drug administration
Nervous System and Brain Tumor Panel
AIP, ALK, APC, CDKN1B, CDKN2A, DICER1, EPCAM, LZTR1, MEN1, MLH1, MSH2, MSH6, NF1, NF2, PHOX2B, PMS2, POT1, PRKAR1A, PTCH1, PTEN, SMARCA4, SMARCB1, SMARCE1, SUFU, TP53, TSC1, TSC2, VHL
GBA Gene Test
DMD Del/Dup Testing by MLPA
Test of NGS panel
Tuberous Sclerosis Panel
TSC1, TSC2
IDS Gene Test
FSHD Type 2 Test
DNMT3B, LRIF1, SMCHD1
Test of Quantitative Detection of Hepatitis B Virus Surface Antigen
LDLR Del/Dup Testing by MLPA
SMA Carrier Screen
SMN1, SMN2
Test of Severe Combined Immunodeficiency (SCID, XLA, SMA)
OTC gene sequencing
SMA Carrier Screen by MLPA
Test of Vitamin A, D, E
SMPD1 Gene Test
SMPD1
SMA Diagnostic Test
SMN1, SMN2
Test of Vitamin D
Comprehensive Glycogen Storage Disease Panel
AGL, ALDOA, ENO3, FBP1, G6PC1, GAA, GBE1, GYG1, GYS1, GYS2, LAMP2, LDHA, PFKM, PGAM2, PHKA1, PHKA2, PHKB, PHKG2, PYGL, PYGM, RBCK1, SLC2A2, SLC37A4
SMA Diagnostic Test by MLPA
Comprehensive Lysosomal Storage Disorders Panel with GBA and IDS
AGA, ARSA, ARSB, ASAH1, CLN3, CLN5, CLN6, CLN8, CTNS, CTSA, CTSD, CTSF, CTSK, DNAJC5, FUCA1, GAA, GALC, GALNS, GBA, GLA, GLB1, GM2A, GNPTAB, GNPTG, GNS, GUSB, HEXA, HEXB, HGSNAT, HYAL1, IDS, IDUA, KCTD7, LAMP2, LIPA, MAN2B1, MANBA, MCOLN1, MFSD8, NAGA, NAGLU, NEU1, NPC1, NPC2, PPT1, PSAP, SGSH, SLC17A5, SMPD1, SUMF1, TPP1
Test of DMD
Comprehensive Mitochondrial Nuclear Gene Panel
AARS1, AARS2, ABCB11, ABCB4, ABCB7, ABCD4, ACAD9, ACADM, ACADVL, ACO2, ACSF3, AFG3L2, AGK, AGL, AIFM1, ALAS2, ALDOA, ALDOB, ALG1, ALG11, ALG13, ALG2, ALG3, ALG6, ALG9, AMACR, APTX, ARG1, ASL, ASS1, ATP5F1A, ATP5F1E, ATP7A, ATP7B, ATP8B1, ATPAF2, AUH, B4GALT1, BCKDHA, BCKDHB, BCS1L, BOLA3, C19ORF12, CA5A, CARS2, CHKB, CLPB, COA5, COA6, COA8, COASY, COG4, COG5, COG6, COG7, COG8, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX4I2, COX6A1, COX6B1, COX7B, COX8A, CPS1, CPT1A, CPT2, CYC1, DARS1, DARS2, DBT, DDHD1, DDHD2, DDOST, DGUOK, DLAT, DLD, DMGDH, DNA2, DNAJC19, DNM1L, DNM2, DOLK, DPAGT1, DPM1, DPM3, EARS2, ECHS1, ELAC2, ENO3, ETFA, ETFB, ETFDH, ETHE1, FAH, FARS2, FASTKD2, FBP1, FBXL4, FDX2, FH, FLAD1, FOXRED1, G6PC1, GAA, GAMT, GARS1, GATM, GBE1, GCDH, GFER, GFM1, GFM2, GLRX5, GMPPA, GPHN, GSS, GTPBP3, GYG1, GYS1, GYS2, HADHA, HADHB, HARS2, HCFC1, HIBCH, HLCS, HMGCL, HMGCS2, HSD17B10, HSPD1, HTRA2, IARS2, IBA57, ISCA2, ISCU, IVD, LAMP2, LARS1, LARS2, LDHA, LIAS, LIPT1, LMBRD1, LRPPRC, LYRM4, LYRM7, MARS1, MARS2, MCCC1, MCCC2, MCEE, MFF, MFN2, MGAT2, MGME1, MICU1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MOCS2, MOGS, MPC1, MPDU1, MPI, MPV17, MRPL12, MRPL3, MRPL44, MRPS16, MRPS22, MRPS7, MTFMT, MTO1, MTPAP, MTR, MTRFR, MTRR, NADK2, NAGS, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFS1, NFU1, NGLY1, NR2F1, NUBPL, OPA1, OPA3, OTC, PARS2, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PET100, PFKM, PGAM2, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PMM2, PNPT1, POLG, POLG2, PRKAG2, PRPS1, PTRH2, PUS1, PYGM, QARS1, RARS1, RARS2, REEP1, RMND1, RNASEH1, RRM2B, SARS2, SCO1, SCO2, SDHAF1, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC22A5, SLC25A26, SLC25A3, SLC25A38, SLC25A4, SLC25A46, SPAST, SPG7, SUCLA2, SUCLG1, SURF1, TACO1, TARS2, TFAM, TIMM8A, TK2, TMEM126A, TMEM126B, TMEM70, TPK1, TRIT1, TRMT10C, TRMU, TRNT1, TSFM, TTC19, TUFM, TWNK, TYMP, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, VARS2, WDR45, WFS1, YARS2
Comprehensive Mucopolysaccharidoses (MPS) Panel
AGA, ARSB, CTSA, CTSK, FUCA1, GALNS, GLB1, GNPTAB, GNPTG, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, MAN2B1, MANBA, MCOLN1, NAGA, NAGLU, NEU1, SGSH, SLC17A5
Congenital Adrenal Hyperplasia Panel with CYP21A2
ACTHR, CYP11A1, CYP11B1, CYP17A1, CYP21A2, HSD3B2, STAR
CYP21A2 Del/Dup Testing by MLPA
CYP21A2
Elevated Phenylalanine Panel
GCH1, PAH, PCBD1, PTS, QDPR
Familial Hypercholesterolemia Panel
APOB, LDLR, LDLRAP1, PCSK9
Galactosemia Panel
GALE, GALK1, GALT
GALNS Gene Test
GALNS
GBA Gene Del/Dup Testing by MLPA
GLA Gene Test
GLB1 Gene Test
GUSB Gene Test
IDUA Gene Test
Krabbe Disease Panel
GALC, PSAP
Lysosomal Storage Disorder Panel with GBA and IDS
ARSB, GAA, GALC, GALNS, GBA, GLA, GLB1, GUSB, IDS, IDUA, SMPD1, SUMF1
Mitochondrial Genome Sequencing by LR-PCR followed by NGS
SUMF1 Gene Test
SUMF1
Test of GBA
Test of GLA
Test of Lysosomal Storage Diseases
Test of Urine Organic Acids
Tyrosinemia Panel
FAH, HPD, TAT
