Pre-Designed NGS Amplicon Panels

Gene-determined Health Panel

ACTA2, ACTC1, APC, APOB, ATP7B, BMPR1A, BRCA1, BRCA2, CACNA1S, COL3A1, DSC2, DSG2, DSP, FBN1, GLA, KCNH2, KCNQ1, LDLR, LMNA, MEN1, MLH1, MSH2, MSH6, MUTYH, MYBPC3, MYH11, MYH7, MYL2, MYL3, NF2, OTC, PCSK9, PKP2, PMS2, PRKAG2, PTEN, RB1, RET, RYR1, RYR2, SCN5A, SDHAF2, SDHB, SDHC, SDHD, SMAD3, SMAD4, STK11, TGFBR1, TGFBR2, TMEM43, TNNI3, TNNT2, TP53, TPM1, TSC1, TSC2, VHL, WT1

Comprehensive Genetic Health Panel

ACTA2, ACTC1, ACTN2, ACVRL1, APC, APOB, ATM, ATP7B, AXIN2, BAG3, BAP1, BARD1, BMPR1A, BMPR2, BRCA1, BRCA2, BRIP1, CACNA1C, CACNA1S, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV1, CAV3, CDC73, CDH1, CDK4, CDKN2A, CHEK2, COL3A1, CRYAB, CSRP3, DES, DICER1, DMD, DSC2, DSG2, DSP, EMD, ENG, EPCAM, F2, F5, F9, FBN1, FH, FHL1, FLCN, FLNC, GDF2, GLA, GPD1L, GREM1, HAMP, HCN4, HFE, HJV, HOXB13, JUP, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, KIT, LAMP2, LDLR, LDLRAP1, LMNA, MAX, MEN1, MET, MITF, MLH1, MSH2, MSH3, MSH6, MUTYH, MYBPC3, MYH11, MYH7, MYL2, MYL3, MYLK, NBN, NF1, NF2, NKX2-5, NTHL1, OTC, PALB2, PCSK9, PDGFRA, PKP2, PLN, PMS2, POLD1, POLE, PRKAG2, PRKAR1A, PRKG1, PROC, PROS1, PTCH1, PTEN, RAD51C, RAD51D, RB1, RBM20, RET, RYR1, RYR2, SCN5A, SDHA, SDHAF2, SDHB, SDHC, SDHD, SERPINA1, SERPINC1, SGCD, SLC40A1, SMAD3, SMAD4, SMARCA4, SMARCB1, STK11, TCAP, TFR2, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM127, TMEM43, TNNC1, TNNI3, TNNT2, TP53, TPM1, TSC1, TSC2, VCL, VHL, WT1

Comprehensive Hereditary Cancer Panel

AIP,ALK,APC,ATM,AXIN2,BAP1,BARD1,BLM,BMPR1A,BRCA1,BRCA2,BRIP1,CDC73,CDH1,CDK4,CDKN1B,CDKN1C,CDKN2A,CEBPA,CHEK2,DICER1,DIS3L2,EGFR,EPCAM,FANCC,FANCM,FH,FLCN,GATA2,GPC3,GREM1,HNF1A,HOXB13,HRAS,KIT,MAX,MEN1,MET,MITF,MLH1,MRE11A,MSH2,MSH3,MSH6,MUTYH,NBN,NF1,NF2,NTHL1,PALB2,PDGFRA,PHOX2B,PMS1,PMS2,POLD1,POLE,POT1,PRKAR1A,PTCH1,PTEN,RAD50,RAD51C,RAD51D,RB1,RECQL,RECQL4,RET,RUNX1,SDHA,SDHAF2,SDHB,SDHC,SDHD,SMAD4,SMARCA4,SMARCB1,STK11,SUFU,TERC,TERT,TMEM127,TP53,TSC1,TSC2,VHL,WRN,WT1,XRCC2

Hereditary Breast and Ovarian Cancer Panel

ATM,BARD1,BRCA1,BRCA2,BRIP1,CDH1,CHEK2,EPCAM,MLH1,MRE11,MSH2,MSH6,MUTYH,NBN,NF1,PALB2,PMS2,PTEN,RAD50,RAD51C,RAD51D,STK11,TP53

Hereditary Colorectal Cancer Panel

APC,AXIN2,BMPR1A,CDH1,CHEK2,EPCAM,GALNT12,GREM1,MLH1,MSH2,MSH3,MSH6,MUTYH,NTHL1,PMS2,POLD1,POLE,PTEN,SMAD4,STK11,TP53

Hereditary Prostate Cancer Panel

ATM,BRCA1,BRCA2,BRIP1,CHEK2,EPCAM,HOXB13,MLH1,MSH2,MSH6,NBN,PALB2,PMS2,RAD51C,RAD51D,TP53

Hereditary Nervous System and Brain Cancer Panel

AIP,ALK,APC,DICER1,EPCAM,HRAS,LZTR1,MEN1,MLH1,MSH2,MSH6,NF1,NF2,PHOX2B,PMS2,POT1,PRKAR1A,PTCH1,PTEN,RB1,SMARCA4,SMARCB1,SMARCE1,SUFU,TP53,TSC1,TSC2,VHL

Hereditary Pancreatic Cancer Panel

APC,ATM,BMPR1A,BRCA1,BRCA2,CDK4,CDKN2A,EPCAM,FANCC,MEN1,MLH1,MSH2,MSH6,NF1,PALB2,PMS2,PRSS1,SMAD4,STK11,TP53,TSC1,TSC2,VHL

Hereditary Sarcoma Panel

APC,BLM,CDKN1C,DICER1,EPCAM,FH,HRAS,KIT,MLH1,MSH2,MSH6,NBN,NF1,PDGFRA,PMS2,PRKAR1A,PTCH1,RB1,RECQL4,SDHA,SDHB,SDHC,SDHD,SUFU,TP53,WRN

Hereditary Myelodysplastic Syndrome (MDS) /Leukemia Panel

ANKRD26,ATM,BLM,CEBPA,DDX41,EPCAM,ETV6,GATA2,HRAS,MLH1,MSH2,MSH6,NBN,NF1,PMS2,RUNX1,SAMD9,SAMD9L,SRP72,TERC,TERT,TP53

Hereditary Renal / Urinary Cancer Panel

BAP1,CDC73,CDKN1C,DICER1,DIS3L2,EPCAM,FH,FLCN,GPC3,MET,MITF,MLH1,MSH2,MSH6,PMS2,PTEN,REST,SDHA,SDHB,SDHC,SDHD,SMARCA4,SMARCB1,TP53,TSC1,TSC2,VHL,WT1

Hereditary Gastric Cancer Panel

APC,BMPR1A,CDH1,CTNNA1,EPCAM,KIT,MLH1,MSH2,MSH6,NF1,PDGFRA,PMS2,SDHA,SDHB,SDHC,SDHD,SMAD4,STK11,TP53

Hereditary Melanoma Panel

BAP1,BRCA1,BRCA2,CDK4,CDKN2A,CHEK2,MC1R,MITF,POT1,PTCH1,PTEN,RB1,TP53

Hereditary Thyroid Cancer Panel

APC,CHEK2,DICER1,PRKAR1A,PTEN,RET,TP53

Pediatric Cancer Panel

AIP,ALK,APC,ATM,AXIN2,BAP1,BLM,BMPR1A,BUB1B,CDC73,CDKN1C,CEBPA,DICER1,DIS3L2,EPCAM,ETV6,EXT1,EXT2,FH,GATA2,GPC3,HRAS,KIF1B,LZTR1,MAX,MEN1,MLH1,MSH2,MSH6,NBN,NF1,NF2,PAX5,PHOX2B,PMS2,PRF1,PRKAR1A,PTCH1,PTCH2,PTEN,RB1,RECQL4,REST,RET,RUNX1,SDHA,SDHAF2,SDHB,SDHC,SDHD,SMAD4,SMARCA4,SMARCB1,SMARCE1,SRP72,STK11,SUFU,TERC,TERT,TMEM127,TP53,TSC1,TSC2,VHL,WRN,WT1

Comprehensive Cardiology Panel

ACTA2, ACTC1, ACTN2, ACVRL1, APOB, BAG3, BMPR2, CACNA1C, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV1, CAV3, COL3A1, CRYAB, CSRP3, DES, DMD, DSC2, DSG2, DSP, EMD, ENG, F2, F5, F9, FBN1, FHL1, FLNC, GDF2, GLA, GPD1L, HCN4, JUP, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, LAMP2, LDLR, LDLRAP1, LMNA, MYBPC3, MYH11, MYH7, MYL2, MYL3, MYLK, NKX2-5, PCSK9, PKP2, PLN, PRKAG2, PRKG1, PROC, PROS1, RBM20, RYR2, SCN5A, SERPINC1, SGCD, SMAD3, SMAD4, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, VCL

Cardiomyopathy Comprehensive Panel

ABCC9, ACADVL, ACTC1, ACTN2, AGL, AKAP9, ALMS1, ALPK3, ANKRD1, BAG3, BRAF, CACNA1C, CALR3, CASQ2, CAV3, CAVIN4, CBL, CHRM2, CPT2, CRYAB, CSRP3, CTNNA3, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, DTNA, ELAC2, EMD, EYA4, FHL1, FKRP, FKTN, FLNC, FXN, GAA, GATA4, GATA6, GATAD1, GLA, HCN4, HFE, HRAS, ILK, JPH2, JUP, KRAS, LAMA4, LAMP2, LDB3, LMNA, LRRC10, MAP2K1, MAP2K2, MIB1, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEBL, NEXN, NF1, NKX2-5, NRAS, PDLIM3, PKP2, PLN, PRDM16, PRKAG2, PTPN11, RAF1, RBM20, RIT1, RRAS, RYR2, SCN5A, SDHA, SGCD, SHOC2, SLC22A5, SOS1, SOS2, SPRED1, TAZ, TBX20, TCAP, TGFB3, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNT2, TOR1AIP1, TPM1, TTN, TTR, TXNRD2, VCL

Hypertrophic Cardiomyopathy (HCM) Panel

ACTC1, ACTN2, CAV3, CSRP3, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTR, VCL, BAG3, DES, FHL1, FLNC, GAA, LDB3, ANKRD1, JPH2, MYH6, MYLK2, MYPN, NEXN, TTN, ABCC9, AGL, CACNA1C, CRYAB, KRAS, MYOZ2, PDLIM3, PTPN11, RAF1, RYR2, SOS1, BRAF, CALR3, DMD, DSC2, DSG2, DSP, DTNA, EMD, FKTN, GATA4, GATAD1, HRAS, ILK, JUP, LAMA4, LMNA, MAP2K1, MAP2K2, NEBL, NRAS, PKP2, RBM20, RIT1, SCN5A, SGCD, SHOC2, TAZ, TMEM43, TMPO

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

ACTN2, CDH2, CTNNA3, DES, DSC2, DSG2, DSP, EMD, FLNC, JUP, LDB3, LMNA, NKX2-5, PKP2, PLN, PRKAG2, RBM20, RYR2, SCN5A, TGFB3, TMEM43, TNNI3, TNNT2, TTN

Dilated Cardiomyopathy Panel

ABCC9, ACTC1, ACTN2, ALMS1, ALPK3, ANKRD1, BAG3, CAV3, CAVIN4, CHRM2, CRYAB, CSRP3, DES, DMD, DOLK, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FHL2, FKRP, FKTN, FLNC, GATA4, GATA6, GATAD1, GLA, HCN4, ILK, JPH2, JUP, LAMA4, LAMP2, LDB3, LMNA, LRRC10, MIB1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOZ2, MYPN, NEBL, NEXN, NKX2-5, PDLIM3, PKP2, PLN, PPCS, PRDM16, PRKAG2, PTPN11, RAF1, RBM20, RYR2, SCN5A, SGCD, SLC22A5, TAZ, TBX20, TCAP, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TOR1AIP1, TPM1, TTN, TTR, TXNRD2, VCL

Hereditary Hemochromatosis Panel

FTH1, FTL, HAMP, HFE, HFE2, HJV, SLC40A1, TFR2

Left Ventricular Noncompaction (LVNC) Panel

ABCC9, ACTC1, ACTN2, BAG3, CTNNA3, DES, DMD, DSC2, DSG2, DSP, DTNA, EMD, FLNC, HCN4, JPH2, JUP, LAMP2, LDB3, LMNA, MIB1, MYBPC3, MYH6, MYH7, NEXN, PKP2, PLEKHM2, PLN, PRDM16, RAF1, RBM20, RYR2, SCN5A, TAZ, TCAP, TNNI3, TNNT2, TPM1, TTN, VCL

Noonan Syndrome / RASopathies Comprehensive Panel

A2ML1, ACTB, ACTG1, BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, MAP3K8, NF1, NF2, NRAS, NSUN2, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1

Pan Arrhythmia Panel

ABCC9, ACTN2, AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CTNNA3, DES, DSC2, DSG2, DSP, EMD, FLNC, GATA6, GJA5, GPD1L, HCN4, JUP, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LDB3, LMNA, MYH6, MYL4, NKX2-5, PKP2, PLN, PPA2, PRKAG2, RANGRF, RBM20, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SNTA1, TECRL, TGFB3, TMEM43, TNNI3, TNNI3K, TNNT2, TRDN, TRPM4, TTN

Pan Aortopathy and Connective Tissue Disorders Panel

ABCC6, ACTA2, ADAMTS2, ALDH18A1, B3GAT3, BGN, CBS, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, CRTAP, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, FOXE3, LOX, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, SKI, SLC2A10, SLC39A13, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2

Congenital Heart Disease Panel

ACTC1, ACVR2B, BCOR, BMPR2, BRAF, CBL, CHD7, CITED2, CRELD1, DNAH11, ELN, FLNA, FOXH1, GATA4, GATA5, GATA6, GDF1, GJA1, GPC3, HAND1, HAND2, HRAS, JAG1, KMT2D, KRAS, LEFTY2, MED13L, MMP21, MYH6, NKX2-5, NKX2-6, NODAL, NOTCH1, NOTCH2, NR2F2, NRAS, NSD1, PITX2, PKD1L1, PTPN11, RAF1, RBM10, RIT1, SALL4, SHOC2, SMAD6, SOS1, TAB2, TBX1, TBX20, TBX5, TFAP2B, TLL1, ZEB2, ZFPM2, ZIC3

Heterotaxy and Situs Inversus Panel

ACVR2B, ARMC4, C21ORF59, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CFAP53, DNAAF1, DNAAF2, DNAAF3, DNAAF5, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DYX1C1, FOXH1, GDF1, INVS, LEFTY2, LRRC6, MMP21, NODAL, PIH1D3, PKD1L1, SPAG1, ZIC3, ZMYND10

Pulmonary Arterial Hypertension Panel

ACVRL1, BMPR1B, BMPR2, CAV1, EIF2AK4, ENG, GDF2, KCNA5, KCNK3, SMAD9

Hereditary Hemorrhagic Telangiectasia Panel

ACVRL1, ENG, GDF2, RASA1, SMAD4

Parkinson Disease Panel

ATP13A2,ATP1A3,ATP6AP2,ATP7B,C19orf12,CHCHD2,DCTN1,DNAJC6,EIF4G1,FBXO7,GBA,GCH1,HTRA2,LRRK2,MAPT,PARK2,PARK7,PINK1,PLA2G6,POLG,PRKN,PRKRA,RAB39B,SLC20A2,SLC6A3,SNCA,SPR,SYNJ1,TAF1,TH,UCHL1,VPS13A,VPS13C,VPS35,WDR45,XPR1

Alzheimer’s Disease Panel

APOE,APP,GRN,MAPT,PRNP,PSEN1,PSEN2,SNCA,SNCB,TREM2,TYROBP

Alzheimer and Dementia Disease Panel

ABCA7,APOE,APP,C9ORF72,CHCHD10,CHMP2B,CSF1R,DCTN1,DNMT1,FUS,GRN,HNRNPA1,HNRNPA2B1,ITM2B,MAPT,NOTCH3,OPTN,PRNP,PSEN1,PSEN2,RNF216,SNCA,SNCB,SORL1,SQSTM1,TARDBP,TBK1,TREM2,TUBA4A,TYROBP,UBQLN2,VCP

Amyotrophic Lateral Sclerosis Panel

ALS2,ANG,C9ORF72,CHCHD10,CHMP2B,DCTN1,FIG4,FUS,GRN,HNRNPA1,KIF5A,MATR3,OPTN,PFN1,SETX,SLC52A2,SLC52A3,SOD1,SPG11,SPG20,SQSTM1,TARDBP,TBK1,UBQLN2,VAPB,VCP

Dystonia Comprehensive Panel

ADAR,ADCY5,ANO3,ARSA,ATM,ATP1A3,ATP7B,BCAP31,CACNA1B,CIZ1,DCAF17,FA2H,FTL,GCDH,GCH1,GNAL,HPCA,KCNMA1,KCTD17,KMT2B,PANK2,PDGFB,PLA2G6,PNKD,PRKN,PRKRA,PRRT2,SGCE,SLC2A1,SLC6A3,SPR,TH,THAP1,TIMM8A,TOR1A,TUBB4A,VPS13A

Comprehensive Neuromuscular Disorders Panel

ACTA1,AGL,AMPD1,ANO5,ATP2A1,B3GALNT2,B4GAT1,BAG3,BICD2,BIN1,BSCL2,BVES,CACNA1S,CAPN3,CAV3,CAVIN1,CCDC78,CFL2,CHAT,CHKB,CHRNA1,CHRNB1,CHRND,CHRNE,CHRNG,CLCN1,CNTN1,COL12A1,COL6A1,COL6A2,COL6A3,COLQ,CRPPA,CRYAB,DAG1,DES,DMD,DNAJB6,DNM2,DOK7,DPM1,DPM2,DPM3,DYNC1H1,DYSF,EMD,FHL1,FKRP,FKTN,FLNC,GAA,GBE1,GLE1,GMPPB,GNE,HNRNPDL,IGHMBP2,ISPD,ITGA7,KBTBD13,KLHL40,KLHL41,LAMA2,LAMP2,LARGE1,LDB3,LIMS2,LMNA,LMOD3,MATR3,MEGF10,MICU1,MTM1,MTMR14,MUSK,MYH2,MYH7,MYOT,NEB,PABPN1,PFKM,PHKA1,PLEC,PLEKHG5,PMM2,PNPLA2,POLG,POLG2,POMGNT1,POMGNT2,POMK,POMT1,POMT2,PYGM,RAPSN,RRM2B,RXYLT1,RYR1,SCN4A,SELENON,SGCA,SGCB,SGCD,SGCE,SGCG,SIL1,SMCHD1,SPEG,STAC3,SUCLA2,SYNE1,SYNE2,TCAP,TIA1,TK2,TMEM43,TNNI2,TNNT1,TNPO3,TOR1AIP1,TPM2,TPM3,TRAPPC11,TRIM32,TRIP4,TRPV4,TTN,TWNK,TYMP,UBA1,VCP,VRK1

Congenital Myasthenic Syndrome Panel

AGRN,ALG14,ALG2,CHAT,CHRNA1,CHRNB1,CHRND,CHRNE,CHRNG,COLQ,DOK7,DPAGT1,GFPT1,GMPPB,LAMB2,LRP4,MUSK,MYO9A,PLEC,PREPL,RAPSN,SCN4A,SLC5A7,SNAP25,STIM1,SYT2

Comprehensive Muscular Dystrophy Panel

ANO5,B3GALNT2,B4GAT1,CAPN3,CAV3,CHKB,COL6A1,COL6A2,COL6A3,DAG1,DES,DMD,DNAJB6,DPM1,DPM2,DPM3,DYSF,EMD,FHL1,FKRP,FKTN,GAA,GMPPB,ISPD,ITGA7,LAMA2,LARGE1,LMNA,MYOT,PLEC,PNPLA2,POMGNT1,POMGNT2,POMK,POMT1,POMT2,SGCA,SGCB,SGCD,SGCG,SYNE1,SYNE2,TCAP,TMEM43,TNPO3,TRAPPC11,TRIM32,TTN

Dystroglycanopathy Panel

B3GALNT2,B4GAT1,DAG1,DPM1,DPM2,DPM3,FKRP,FKTN,GMPPB,ISPD,LARGE1,POMGNT1,POMGNT2,POMK,POMT1,POMT2,RXYLT1,TMEM5

Limb-Girdle Muscular Dystrophy Panel

ANO5,BVES,CAPN3,CAV3,DAG1,DES,DMD,DNAJB6,DYSF,EMD,FHL1,FKRP,FKTN,FLNC,GAA,GMPPB,HNRNPDL,ISPD,LIMS2,LMNA,MYOT,PLEC,PNPLA2,POMGNT1,POMK,POMT1,POMT2,SGCA,SGCB,SGCD,SGCG,TCAP,TNPO3,TOR1AIP1,TRAPPC11,TRIM32,TTN,VCP

Congenital Myopathy Panel

ACTA1,BIN1,CCDC78,CCDC78,CFL2,CFL2,CHKB,CNTN1,COL12A1,COL6A1,COL6A2,COL6A3,DNM2,KBTBD13,KLHL40,KLHL41,LMOD3,MEGF10,MTM1,MYF6,MYH2,MYH7,NEB,RYR1,SCN4A,SELENON,SEPN1,SPEG,STAC3,TNNT1,TPM2,TPM3,TTN

Centronuclear Myopathy Panel

BIN1,CCDC78,DNM2,MTM1,MYF6,RYR1,SPEG,TTN

Distal Myopathy Panel

ANO5,BAG3,CAV3,CRYAB,DES,DNAJB6,DNM2,DYSF,FHL1,FLNC,GNE,KLHL9,LDB3,MATR3,MYH7,MYOT,SQSTM1,TCAP,TIA1,TTN,VCP

Nemaline Myopathy Panel

ACTA1,BIN1,CFL2,KBTBD13,KLHL40,KLHL41,LMOD3,MTM1,MYPN,NEB,TNNT1,TPM2,TPM3

Comprehensive Neuropathy Panel

AARS,AIFM1,ATL1,ATP7A,BICD2,BSCL2,DCTN1,DNAJB2,DNM2,DNMT1,DYNC1H1,EGR2,ELP1,FGD4,FIG4,GAN,GARS,GDAP1,GJB1,GNB4,HARS,HINT1,HSPB1,HSPB8,IGHMBP2,INF2,KIF1A,KIF5A,LITAF,LMNA,LRSAM1,MED25,MFN2,MORC2,MPZ,MTMR2,NDRG1,NEFL,NGF,NTRK1,PDK3,PLEKHG5,PMP22,PRPS1,PRX,RAB7A,REEP1,RETREG1,SBF1,SBF2,SCN11A,SCN9A,SH3TC2,SLC12A6,SLC52A2,SLC52A3,SLC5A7,SPTLC1,SPTLC2,TFG,TRIM2,TRPV4,TTR,WNK1,YARS

Charcot-Marie-Tooth Disease Panel

AARS,AIFM1,ARHGEF10,ATL1,ATP1A1,ATP7A,BSCL2,C12ORF65,COX6A1,CTDP1,DHTKD1,DNAJB2,DNM2,DNMT1,DYNC1H1,EGR2,ELP1,FBLN5,FGD4,FIG4,GAN,GARS,GDAP1,GJB1,GNB4,HADHB,HARS,HINT1,HK1,HSPB1,HSPB8,IGHMBP2,INF2,KARS,KIF1A,KIF1B,KIF5A,LITAF,LMNA,LRSAM1,MARS,MED25,MFN2,MME,MORC2,MPZ,MTMR2,NDRG1,NEFL,NGF,NTRK1,PDK3,PLEKHG5,PMP22,PRPS1,PRX,RAB7A,REEP1,RETREG1,SBF1,SBF2,SH3TC2,SLC12A6,SLC25A46,SPG11,SPTLC1,SPTLC2,TFG,TRIM2,TRPV4,TTR,VCP,WNK1,YARS

Hereditary Sensory and Autonomic Neuropathy Panel

ATL1,ATL3,CCT5,DNMT1,DST,ELP1,KIF1A,NGF,NTRK1,PRDM12,RAB7A,RETREG1,SCN11A,SCN9A,SPTLC1,SPTLC2,WNK1

Hereditary Motor Neuropathy Panel

ATP7A,BICD2,BSCL2,DCTN1,DNAJB2,DYNC1H1,FBXO38,GAN,GARS,HINT1,HSPB1,HSPB3,HSPB8,IGHMBP2,PLEKHG5,REEP1,SETX,SIGMAR1,SLC5A7,TRPV4

Hereditary Spastic Paraplegia Comprehensive Panel

ABCD1,ALDH18A1,ALS2,AMPD2,AP4B1,AP4E1,AP4M1,AP4S1,AP5Z1,ARL6IP1,ARSI,ATL1,ATP13A2,ATP2B4,B4GALNT1,BICD2,BSCL2,C12orf65,C19ORF12,CAPN1,CCT5,CYP2U1,CYP7B1,DARS,DDHD1,DDHD2,ENTPD1,ERLIN1,ERLIN2,EXOSC3,FA2H,FARS2,GBA2,GJC2,HACE1,HSPD1,IBA57,KDM5C,KIAA0196,KIDINS220,KIF1A,KIF1C,KIF5A,L1CAM,MAG,NIPA1,NT5C2,PLP1,PNPLA6,REEP1,REEP2,RTN2,SACS,SLC16A2,SLC33A1,SPART,SPAST,SPG11,SPG20,SPG21,SPG7,TECPR2,TFG,USP8,VAMP1,VPS37A,WASHC5,WDR48,ZFYVE26,ZFYVE27

Comprehensive Epilepsy Panel

ABAT,ABCD1,ACTL6B,ACY1,ADAM22,ADAR,ADGRG1,ADGRV1,ADSL,AGA,AIFM1,ALDH5A1,ALDH7A1,ALG13,AMACR,AMT,ANKRD11,AP3B2,ARFGEF2,ARG1,ARHGEF9,ARID1B,ARSA,ARX,ASAH1,ASNS,ASPA,ATP13A2,ATP1A2,ATP1A3,ATP6AP2,ATRX,BCKDK,BRAT1,BTD,C12orf57,CACNA1A,CACNA1B,CACNA1D,CACNA1H,CACNA2D2,CACNB4,CARS2,CASK,CASR,CDKL5,CERS1,CHD2,CHRNA2,CHRNA4,CHRNB2,CLCN2,CLCN4,CLN3,CLN5,CLN6,CLN8,CLTC,CNPY3,CNTN2,CNTNAP2,COL18A1,COL4A1,COX15,CPA6,CPT2,CRH,CSTB,CTNNB1,CTSD,CTSF,CUL4B,CYFIP2,DCX,DDX3X,DENND5A,DEPDC5,DHCR7,DHFR,DNAJC5,DNM1,DOCK7,DPYD,DYRK1A,EEF1A2,EFHC1,EHMT1,EIF2B1,EIF2B2,EIF2B3,EIF2B4,EIF2B5,EPM2A,ETFDH,FARS2,FGF12,FH,FKTN,FLNA,FOLR1,FOXG1,FRRS1L,GABBR2,GABRA1,GABRB2,GABRB3,GABRG2,GALC,GAMT,GATM,GCDH,GFAP,GLB1,GLDC,GLRA1,GLRB,GNAO1,GNB1,GNE,GOSR2,GPAA1,GPHN,GRIA3,GRIN1,GRIN2A,GRIN2B,GRN,HCN1,HCN2,HECW2,HNRNPU,HSD17B10,IER3IP1,IQSEC2,IRF2BPL,ITPA,KANSL1,KCNA1,KCNA2,KCNB1,KCNC1,KCNH1,KCNH2,KCNJ10,KCNMA1,KCNQ2,KCNQ3,KCNT1,KCTD7,KDM5C,KDM6A,KIAA2022,L2HGDH,LGI1,LIAS,LRPPRC,MAGI2,MBD5,MDH2,MECP2,MED12,MED17,MEF2C,MFSD8,MLC1,MOCS1,MTFMT,MTHFR,MTOR,NACC1,NDST1,NDUFS4,NDUFS7,NDUFS8,NDUFV1,NECAP1,NEDD4L,NEU1,NEXMIF,NF1,NGLY1,NHLRC1,NOTCH3,NPRL3,NR2F1,NRXN1,NSD1,NUS1,OFD1,OPHN1,PACS1,PAFAH1B1,PAK3,PCDH19,PGK1,PHF6,PIGA,PIGG,PIGN,PIGO,PIGP,PIGT,PIGV,PIGW,PLAA,PLCB1,PLP1,PLPBP,PNKP,PNPO,POLG,POMT1,POMT2,PPP3CA,PPT1,PQBP1,PRICKLE1,PRIMA1,PRODH,PRRT2,PSAP,PURA,QARS,QDPR,RAB39B,RELN,RNASEH2A,RNASEH2B,RNASEH2C,ROGDI,RORB,SAMHD1,SATB2,SCARB2,SCN10A,SCN1A,SCN1B,SCN2A,SCN3A,SCN8A,SCN9A,SERPINI1,SETBP1,SIK1,SLC12A5,SLC13A5,SLC17A5,SLC19A3,SLC25A12,SLC25A15,SLC25A22,SLC2A1,SLC35A2,SLC46A1,SLC6A1,SLC6A8,SLC9A6,SMARCA2,SMC1A,SMS,SNAP25,SPATA5,SPTAN1,ST3GAL3,ST3GAL5,STRADA,STX1B,STXBP1,SUMF1,SUOX,SYN1,SYNGAP1,SYNJ1,SZT2,TBC1D24,TBL1XR1,TCF4,TNK2,TPK1,TPP1,TREX1,TSC1,TSC2,TUBA1A,TUBA8,TUBB2A,TUBB2B,UBA5,UBE2A,UBE3A,UNC80,VPS13A,WASF1,WDR45,WWOX,ZEB2

Early Infantile Epileptic Encephalopathy Panel

ADSL,ALDH7A1,ALG13,ARHGEF9,ARX,BRAT1,CACNA1A,CASK,CDKL5,CHD2,CLCN4,CLN3,CLN5,CLN6,CLN8,CNTNAP2,CTSD,DEPDC5,DNM1,DOCK7,EEF1A2,FARS2,FOLR1,FOXG1,FRRS1L,GABBR2,GABRA1,GABRB3,GABRG2,GAMT,GNAO1,GRIN1,GRIN2A,GRIN2B,HCN1,HNRNPU,KCNA2,KCNB1,KCNJ10,KCNMA1,KCNQ2,KCNQ3,KCNT1,KCTD7,MBD5,MECP2,MEF2C,MFSD8,NRXN1,PCDH19,PIGA,PIGN,PIGO,PLCB1,PNKP,PNPO,POLG,PPT1,PRRT2,PURA,SCN1A,SCN1B,SCN2A,SCN8A,SCN9A,SLC12A5,SLC13A5,SLC19A3,SLC25A12,SLC25A22,SLC2A1,SLC35A2,SLC6A1,SLC9A6,SMC1A,SPTAN1,ST3GAL3,STX1B,STXBP1,SYNGAP1,SZT2,TBC1D24,TPP1,TSC1,TSC2,WDR45,WWOX

Holoprosencephaly Panel

CDON,FGF8,FGFR1,FOXH1,GLI2,NODAL,PTCH1,SHH,SIX3,TGIF1,ZIC2

Neurodegeneration with Brain Iron Accumulation Panel

AP4M1,ATP13A2,ATP13A2,C19orf12,COASY,CP,CRAT,DCAF17,FA2H,FTL,FUCA1,GTPBP2,NALCN,PANK2,PLA2G6,REPS1,SCP2,SQSTM1,WDR45

Rett and Angelman Syndromes Panel

ATRX,CDKL5,CNTNAP2,FOXG1,GABBR2,IQSEC2,MBD5,MECP2,MEF2C,NRXN1,SATB2,SCN8A,SLC9A6,STXBP1,TCF4,UBE3A,WDR45,ZEB2

Autism Spectrum Disorders Panel

ADNP,ADSL,ALDH5A1,ANKRD11,ARID1B,ARX,AUTS2,BCL11A,BRAF,CACNA1C,CC2D1A,CDKL5,CHD2,CHD7,CHD8,CNTN6,CNTNAP2,CREBBP,CSNK2A1,CTNND2,DHCR7,DYRK1A,EHMT1,FMR1,FOLR1,FOXG1,FOXP1,GABRB3,GAMT,GRIN2B,GRIP1,HDAC8,HOXA1,HPRT1,KATNAL2,KMT5B,MAGEL2,MBD5,MECP2,MED12,MEF2C,MID1,NHS,NIPBL,NLGN3,NLGN4X,NRXN1,NSD1,PCDH19,POGZ,PQBP1,PTCHD1,PTEN,PTPN11,RAB39B,RAD21,RAI1,RELN,RPL10,SCN1A,SCN2A,SHANK2,SHANK3,SLC6A1,SLC6A8,SLC9A6,SMC1A,SMC3,SPAST,SYNGAP1,TBR1,TCF20,TCF4,TSC1,TSC2,UBE3A,UPF3B,VPS13B,ZEB2

Porphyria Disorders Panel

ALAD,ALAS2,C15orf41,CPOX,FECH,HFE,HMBS,LAD,PPOX,SLC19A2,UROD,UROS

Homocystinuria Panel

CBS,MMADHC,MTHFR,MTR,MTRR

Hyperphenylalaninemia Panel

DNAJC12,GCH1,PAH,PCBD1,PTS,QDPR,SPR

Glycogen Storage Disease Panel

AGL,ALDOA,ENO3,EPM2A,FBP1,G6PC,GAA,GBE1,GYG1,GYS1,GYS2,LAMP2,LDHA,NHLRC1,PFKM,PGAM2,PGK1,PGM1,PHKA1,PHKA2,PHKB,PHKG2,PRKAG2,PYGL,PYGM,RBCK1,SLC2A2,SLC37A4

Congenital Disorders of Glycosylation Panel

ALG1,ALG11,ALG12,ALG13,ALG14,ALG2,ALG3,ALG6,ALG8,ALG9,ATP6AP1,ATP6V0A2,B3GAT3,B3GLCT,B4GALT1,B4GALT7,CCDC115,CHST14,CHST3,CHST6,CHSY1,COG1,COG2,COG4,COG5,COG6,COG7,COG8,DDOST,DHDDS,DOLK,DPAGT1,DPM1,DPM2,DPM3,EXT1,EXT2,FKRP,FKTN,FUT8,G6PC3,GALNT3,GFPT1,GMPPA,GMPPB,GNE,LFNG,MAGT1,MAN1B1,MGAT2,MOGS,MPDU1,MPI,NGLY1,PGM1,PGM3,PIGA,PIGL,PIGM,PIGO,PIGV,PMM2,POMGNT1,POMT1,POMT2,RFT1,RPN2,SEC23A,SEC23B,SLC35A1,SLC35A2,SLC35A3,SLC35C1,SLC35D1,SLC39A8,SRD5A3,SSR4,ST3GAL3,ST3GAL5,STT3A,STT3B,TMEM165,TMEM199,TRIP11,TUSC3

Disorders of Fatty Acid Oxidation Panel

ACADM,ACADS,ACADSB,ACADVL,CPT1A,CPT2,ETFA,ETFB,ETFDH,HADH,HADHA,HADHB,HMGCL,HMGCS2,MLYCD,SLC22A5,SLC25A20

Comprehensive Lysosomal Storage Disorders Panel

ADAMTSL2,AGA,AP3B1,ARSA,ARSB,ASAH1,ATP13A2,CLN3,CLN5,CLN6,CLN8,CTNS,CTSA,CTSD,CTSK,DNAJC5,FUCA1,GAA,GALC,GALNS,GBA,GLA,GLB1,GM2A,GNE,GNPTAB,GNPTG,GNS,GPC3,GUSB,HEXA,HEXB,HGSNAT,HYAL1,IDS,IDUA,KCTD7,LAMP2,LIPA,LYST,MAN2B1,MANBA,MCOLN1,MFSD8,MYO5A,NAGA,NAGLU,NEU1,NPC1,NPC2,PEX1,PEX10,PEX12,PEX13,PEX16,PEX26,PEX3,PEX5,PEX6,PHYH,PPT1,PSAP,RAB27A,SGSH,SLC17A5,SMPD1,SUMF1,TPP1

Comprehensive Mucopolysaccharidoses (MPS) Panel

ARSB,GALNS,GLB1,GNPTAB,GNPTG,GNS,GUSB,HGSNAT,HYAL1,IDS,IDUA,MCOLN1,NAGLU,SGSH

Comprehensive Neuronal Ceroid Lipofuscinoses Panel

ATP13A2,CLN3,CLN5,CLN6,CLN8,CTSD,CTSF,DNAJC5,GRN,KCTD7,MFSD8,PPT1,TPP1

Neurotransmitter Disorders Panel

ABAT,ALDH5A1,ALDH7A1,ARHGEF9,DBH,DDC,GAD1,GCH1,GLDC,GLRA1,GLRB,GPHN,MAOA,PCBD1,PHGDH,PNPO,PTS,QDPR,SLC6A3,SLC6A5,SPR,TH

Organic Acidemia/Aciduria  Panel

ABAT,ALDH5A1,ALDH7A1,AMT,ARHGEF9,ASNS,ATP1A3,CACNA1A,CACNA1B,CBS,CLTC,COMT,DBH,DDC,DHFR,DRD3,DRD4,DRD5,FOLR1,GABRA1,GABRB3,GABRD,GABRG2,GAD1,GCH1,GCSH,GLDC,GLRA1,GLRB,GLUL,GNAQ,GPHN,HTR1A,HTR2A,MAOA,MTHFD1,MTHFR,PC,PCBD1,PHGDH,PITX3,PNPO,PSAT1,PSPH,PTS,QDPR,SLC1A3,SLC25A22,SLC46A1,SLC6A1,SLC6A2,SLC6A3,SLC6A4,SLC6A5,SLC6A9,SNAP25,SNAP29,SNCA,SPR,STXBP1,SYN1,SYN2,SYP,TH,TPH2

Peroxisomal Disorders Panel

ABCD1,ABCD3,ACOX1,AGPS,AGXT,AMACR,CAT,DNM1L,DYM,EBP,GNPAT,HSD17B4,PEX1,PEX10,PEX11B,PEX12,PEX13,PEX14,PEX16,PEX19,PEX2,PEX26,PEX3,PEX5,PEX6,PEX7,PHYH,SCP2,SUGCT,TRIM37

Purine and Pyrimidine Metabolism Disorders Panel

ADA,ADSL,AMPD1,GPHN,HPRT1,MOCOS,MOCS1,PNP,XDH,APRT,ATIC,DHODH,DPYD,DPYS,NT5C3A,PRPS1,REN,SUOX,TPMT,UMOD,UMPS,UPB1

Pyruvate Dehydrogenase Deficiency Panel 

DLAT,DLD,LIAS,MPC1,PDHA1,PDHB,PDHX,PDP1

Hyperammonemia and Urea Cycle Disorder Panel

ACADM,ACADS,ACADVL,ALDH18A1,ARG1,ASL,ASS1,BCKDHA,BCKDHB,BTD,CA5A,CPS1,CPT1A,CPT2,DBT,DLD,ETFA,ETFB,ETFDH,GLUD1,GLUL,HADHA,HADHB,HCFC1,HLCS,HMGCL,HMGCS2,IVD,MCCC1,MCCC2,MMAA,MMAB,MMACHC,MMADHC,MUT,NAGS,OAT,OTC,PC,PCCA,PCCB,PDHA1,SERAC1,SLC22A5,SLC25A13,SLC25A15,SLC25A20,SLC7A7,SUCLA2,SUCLG1,TMEM70,UMPS

Hypophosphatemic Rickets Panel

ALPL,CLCN5,CYP27B1,CYP2R1,DMP1,ENPP1,FAH,FAM20C,FGF23,FGFR1,KL,PHEX,SLC34A1,SLC34A3,VDR

Ciliopathies Panel 

ACVR2B,AHI1,ALMS1,ANKS6,ARL13B,ARL6,ARMC4,B9D1,B9D2,BBIP1,BBS1,BBS10,BBS12,BBS2,BBS4,BBS5,BBS7,BBS9,CC2D2A,CCDC103,CCDC114,CCDC151,CCDC39,CCDC40,CCDC65,CCNO,CEP104,CEP120,CEP164,CEP290,CEP41,CEP83,CFAP298,CFTR,CPLANE1,CSPP1,DCDC2,DNAAF1,DNAAF2,DNAAF3,DNAAF4,DNAAF5,DNAH11,DNAH5,DNAH8,DNAI1,DNAI2,DNAL1,DRC1,DYNC2H1,EVC,EVC2,GLI3,GLIS2,HYLS1,IFT122,IFT140,IFT172,IFT27,IFT43,IFT80,INPP5E,INVS,IQCB1,KIAA0586,KIF14,KIF7,LEFTY2,LRRC6,LZTFL1,MKKS,MKS1,NEK1,NEK8,NKX2-5,NME8,NODAL,NPHP1,NPHP3,NPHP4,OFD1,PDE6D,PKD2,PKHD1,RPGR,RPGRIP1L,RSPH1,RSPH4A,RSPH9,SDCCAG8,SPAG1,TCTN1,TCTN2,TCTN3,TMEM138,TMEM216,TMEM231,TMEM237,TMEM67,TRIM32,TTC21B,TTC8,WDPCP,WDR19,WDR34,WDR35,WDR60,XPNPEP3,ZIC3,ZMYND10,ZNF423

Primary Ciliary Dyskinesia Panel 

ARMC4,CCDC103,CCDC114,CCDC151,CCDC39,CCDC40,CCDC65,CCNO,CFAP298,DNAAF1,DNAAF2,DNAAF3,DNAAF4,DNAAF5,DNAH1,DNAH11,DNAH5,DNAH8,DNAI1,DNAI2,DNAJB13,DNAL1,DRC1,GAS8,INVS,LRRC6,MCIDAS,NME8,OFD1,PIH1D3,RPGR,RSPH1,RSPH3,RSPH4A,RSPH9,SPAG1,ZMYND10

Bardet-Biedl Syndrome Panel 

ARL6,BBIP1,BBS1,BBS10,BBS12,BBS2,BBS4,BBS5,BBS7,BBS9,C8orf37,CEP290,IFT172,IFT27,LZTFL1,MKKS,MKS1,SDCCAG8,TMEM67,TRIM32,TTC8,WDPCP

Joubert and Meckel-Gruber Syndromes Panel 

AHI1,ARL13B,B9D1,B9D2,CC2D2A,CEP104,CEP120,CEP290,CEP41,CPLANE1,CSPP1,IFT172,INPP5E,KIAA0586,KIF14,KIF7,MKS1,NPHP1,NPHP3,OFD1,PDE6D,RPGRIP1L,TCTN1,TCTN2,TCTN3,TMEM107,TMEM138,TMEM216,TMEM231,TMEM237,TMEM67,TTC21B,ZNF423

Nephronophthisis Panel 

AHI1,ANKS6,CC2D2A,CEP164,CEP290,CEP41,CEP83,DCDC2,FAN1,GLIS2,IFT172,INVS,IQCB1,MAPKBP1,NEK8,NPHP1,NPHP3,NPHP4,OFD1,PKHD1,RPGRIP1L,SDCCAG8,TCTN1,TMEM138,TMEM216,TMEM237,TMEM67,TRAF3IP1,TTC21B,WDR19,XPNPEP3,ZNF423

Senior-Loken Syndrome Panel  

INVS, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, CEP290, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SCLT1,SDCCAG8,TRAF3IP1,WDR19

Nephrolithiasis Panel  

ADCY10,AGXT,ALPL,APRT,ATP6V0A4,ATP6V1B1,CA2,CASR,CLCN5,CLDN16,CLDN19,CYP24A1,FAM20A,GNA11,GPHN,GRHPR,HNF4A,HOGA1,HPRT1,KCNJ1,MOCOS,MOCS1,OCRL,SLC12A1,SLC22A12,SLC26A1,SLC2A9,SLC34A1,SLC34A3,SLC3A1,SLC4A1,SLC7A9,SLC9A3R1,VDR,XDH

Lynch Syndrome Panel

APC,EPCAM,MLH1,MSH2,MSH6,MUTYH,PMS2

Cardio-Facio-Cutaneous Syndrome Panel

BRAF,HRAS,KRAS,MAP2K1,MAP2K2,NRAS,PTPN11,RAF1,RIT1,SHOC2,SOS1

Ectodermal Dysplasia Panel

EDA,EDAR,EDARADD,LRP6,LTBP3,MSX1,PAX9,WNT10A

Microphthalmia/Anophthalmia Disorders Panel

ABCB6,ALDH1A3,BCOR,BMP4,BMP7,CHD7,COL4A1,COX7B,CRYBA4,CYP1B1,ERCC2,ERCC5,ERCC6,FOXC1,FOXE3,FOXL2,FRAS1,FREM1,FREM2,GDF6,GJA1,GRIP1,HCCS,HESX1,HMX1,MAB21L2,MFRP,MITF,NAA10,NDP,OCRL,OTX2,PAX2,PAX6,PITX2,PQBP1,PRSS56,PXDN,RAB18,RAB3GAP1,RAB3GAP2,RARB,RAX,RBP4,SHH,SIX3,SIX6,SMOC1,SOX2,STRA6,TBC1D20,TENM3,TFAP2A,VPS13B,VSX2,YAP1,ZIC2

Leber Congenital Amaurosis Panel

AIPL1,ALMS1,CABP4,CEP290,CNGA3,CRB1,CRX,DTHD1,GDF6,GUCY2D,IMPDH1,INPP5E,IQCB1,KCNJ13,LCA5,LRAT,MERTK,MYO7A,NMNAT1,OTX2,PRPH2,RD3,RDH12,RDH5,RPE65,RPGRIP1,SNRNP200,SPATA7,TULP1

Congenital Cataracts Panel

ADAMTSL4,AGK,ALDH18A1,BCOR,BEST1,BFSP1,BFSP2,CHMP4B,COL11A1,COL18A1,COL2A1,COL4A1,CRYAA,CRYAB,CRYBA1,CRYBA2,CRYBA4,CRYBB1,CRYBB2,CRYBB3,CRYGB,CRYGC,CRYGD,CRYGS,CTDP1,CYP27A1,EPHA2,EYA1,FAM126A,FOXC1,FOXE3,FTL,FYCO1,FZD4,GALK1,GCNT2,GFER,GJA1,GJA3,GJA8,HSF4,JAM3,LEMD2,LIM2,LSS,MAF,MIP,MIR184,MYH9,NDP,NF2,NHS,OCRL,OPA3,P3H2,PAX6,PITX2,PITX3,PXDN,RAB18,RAB3GAP1,RAB3GAP2,RECQL4,SIL1,SIPA1L3,SIX6,SLC16A12,SLC33A1,TBC1D20,TDRD7,TFAP2A,TMEM70,UNC45B,VIM,VSX2,WFS1,WRN

Bone Marrow Failure Syndromes Panel

ACD,AK2,ANKRD26,AP3B1,ATM,BLM,BRCA1,BRCA2,BRIP1,CBL,CEBPA,CSF3R,CTC1,CXCR4,DDX41,DKC1,DNAJC21,ELANE,EPCAM,ERCC4,ETV6,FANCA,FANCB,FANCC,FANCD2,FANCE,FANCF,FANCG,FANCI,FANCL,FANCM,G6PC3,GATA1,GATA2,GFI1,HAX1,IKZF1,LAMTOR2,LYST,MLH1,MPL,MSH2,MSH6,NBN,NF1,NHP2,NOP10,PALB2,PAX5,PMS2,PTPN11,RAB27A,RAC2,RAD51C,RBM8A,RMRP,RPL11,RPL15,RPL26,RPL35A,RPL5,RPS10,RPS17,RPS19,RPS24,RPS26,RPS28,RPS29,RPS7,RTEL1,RUNX1,SAMD9,SAMD9L,SBDS,SLC37A4,SLX4,SRP72,TAZ,TERC,TERT,TINF2,TP53,UBE2T,USB1,VPS13B,VPS45,WAS,WRAP53,XRCC2

Diamond-Blackfan Anemia Panel

GATA1,RPL11,RPL15,RPL19,RPL26,RPL27,RPL31,RPL35A,RPL5,RPS10,RPS17,RPS19,RPS24,RPS26,RPS27,RPS28,RPS29,RPS7,TSR2

Dyskeratosis Congenita Panel

ACD,CTC1,DKC1,NHP2,NOP10,PARN,RTEL1,TERC,TERT,TINF2,USB1,WRAP53

Fanconi Anemia Panel

BRCA2,BRIP1,ERCC4,FANCA,FANCB,FANCC,FANCD2,FANCE,FANCF,FANCG,FANCI,FANCL,FANCM,MAD2L2,PALB2,RAD51C,SLX4,UBE2T,XRCC2

Hereditary Hemochromatosis Panel

BMP2,FTH1,FTL,HAMP,HFE,HJV,SLC40A1,TFR2

Cornelia de Lange Syndrome (CdLS) Panel

AFF4,ANKRD11,HDAC8,KMT2A,NIPBL,RAD21,SMC1A,SMC3,TAF6

Disorders of Sex Development Panel

AMH,AMHR2,ANOS1,AR,ARX,ATRX,BCOR,CDKN1C,CEP41,CHD7,CREBBP,CYB5A,CYP11A1,CYP11B1,CYP17A1,CYP19A1,DHCR7,DHH,DYNC2H1,FEZF1,FGF8,FGFR1,FIG4,FRAS1,GATA4,GNRH1,GNRHR,HESX1,HSD17B3,HSD3B2,IL17RD,IRF6,KISS1,KISS1R,LHB,LHCGR,MAMLD1,MAP3K1,MKS1,NEK1,NR0B1,NR5A1,POR,PROK2,PROKR2,RSPO1,SOX10,SOX9,SRD5A2,SRY,STAR,TAC3,TACR3,TOE1,TSPYL1,WDR11,WT1,ZFPM2

Macrocephaly and Overgrowth Syndrome Panel

AKT1,AKT2,AKT3,ASPA,ASXL2,BRWD3,CCND2,CDKN1C,CHD8,CUL4B,DHCR24,DIS3L2,DNMT3A,EED,EIF2B5,EZH2,GFAP,GLI3,GPC3,GPSM2,GRIA3,HEPACAM,HERC1,HUWE1,KIF7,KPTN,L1CAM,MED12,MLC1,MPDZ,MTOR,NFIA,NFIX,NPR2,NSD1,OFD1,PDGFRB,PHF6,PIGA,PIK3CA,PIK3R2,PPP2R5D,PTCH1,PTEN,RAB39B,RNF125,RNF135,SETD2,SYN1,TBC1D7,TMEM94,TSC1,TSC2,UPF3B,ZBTB20

Craniosynostosis Panel

ALPL,ALX4,BMP4,CDC45,CYP26B1,EFNB1,ERF,ESCO2,FGFR1,FGFR2,FGFR3,FREM1,GLI3,IFT122,IFT140,IFT43,IL11RA,MASP1,MEGF8,MSX2,P4HB,POR,RAB23,RECQL4,SEC24D,SKI,SPECC1L,TCF12,TCOF1,TGFBR1,TGFBR2,TMCO1,TWIST1,WDR19,WDR35,ZIC1

Skeletal Ciliopathies Panel

C21ORF2,C2CD3,CEP120,COMP,CSPP1,DYNC2H1,DYNC2LI1,EVC,EVC2,FGFR1,FGFR2,FGFR3,ICK,IFT122,IFT140,IFT172,IFT43,IFT52,IFT80,IFT81,KIAA0586,KIAA0753,NEK1,TCTEX1D2,TCTN3,TTC21B,WDR19,WDR34,WDR35,WDR60

Chronic Pancreatitis Panel

CASR,CFTR,CPA1,CTRC,PRSS1,SPINK1

Primary Immunodeficiency Panel

ACD,ACP5,ACTB,ADA,ADA2,ADAM17,ADAR,AICDA,AIRE,AK2,AP1S3,AP3B1,AP3D1,APOL1,ARPC1B,ATM,ATP6AP1,B2M,BACH2,BCL10,BCL11B,BLM,BLNK,BLOC1S6,BTK,C1QA,C1QB,C1QC,C1R,C1S,C2,C3,C5,C6,C7,C8A,C8B,C8G,C9,CARD11,CARD14,CARD9,CARMIL2,CASP10,CASP8,CCBE1,CD19,CD247,CD27,CD3D,CD3E,CD3G,CD40,CD40LG,CD46,CD55,CD59,CD70,CD79A,CD79B,CD81,CD8A,CDCA7,CEBPE,CFB,CFD,CFH,CFI,CFP,CFTR,CHD7,CIITA,CLCN7,CLPB,COLEC11,COPA,CORO1A,CR2,CSF2RA,CSF2RB,CSF3R,CTC1,CTLA4,CTPS1,CTSC,CXCR4,CYBA,CYBB,DCLRE1B,DCLRE1C,DDX58,DGKE,DKC1,DNAJC21,DNASE2,DNMT3B,DOCK2,DOCK8,ELANE,EPG5,ERCC6L2,EXTL3,FAAP24,FADD,FAS,FASLG,FAT4,FCN3,FERMT3,FOXN1,FOXP3,FPR1,G6PC3,G6PD,GATA2,GFI1,GINS1,HAX1,HELLS,HYOU1,ICOS,IFIH1,IFNAR2,IFNGR1,IFNGR2,IGHM,IGLL1,IKBKB,IKZF1,IL10,IL10RA,IL10RB,IL12B,IL12RB1,IL17F,IL17RA,IL17RC,IL1RN,IL21,IL21R,IL2RA,IL2RG,IL36RN,IL7R,INO80,IRAK1,IRAK4,IRF2BP2,IRF3,IRF7,IRF8,ISG15,ITCH,ITGB2,ITK,JAGN1,JAK1,JAK3,KDM6A,KMT2D,KRAS,LAMTOR2,LAT,LCK,LIG1,LIG4,LPIN2,LRBA,LYST,MAGT1,MALT1,MAP3K14,MASP1,MASP2,MCM4,MEFV,MKL1,MOGS,MS4A1,MSH6,MSN,MTHFD1,MVK,MYD88,MYO5A,MYSM1,NBAS,NBN,NCF1,NCF2,NCF4,NCSTN,NFAT5,NFKB1,NFKB2,NFKBIA,NHEJ1,NHP2,NLRC4,NLRP1,NLRP12,NLRP3,NOD2,NOP10,NRAS,NSMCE3,OFD1,ORAI1,OSTM1,OTULIN,PARN,PEPD,PGM3,PIGA,PIK3CD,PIK3R1,PLCG2,PMM2,PMS2,PNP,POLA1,POLE,POLE2,PRF1,PRKCD,PRKDC,PSENEN,PSMB8,PSTPIP1,PTEN,PTPRC,RAB27A,RAC2,RAG1,RAG2,RANBP2,RASGRP1,RBCK1,RECQL4,RELB,RFX5,RFXANK,RFXAP,RHOH,RMRP,RNASEH2A,RNASEH2B,RNASEH2C,RNF168,RNF31,RNU4ATAC,RORC,RPSA,RTEL1,SAMD9,SAMD9L,SAMHD1,SBDS,SEMA3E,SERPING1,SH2D1A,SH3BP2,SLC29A3,SLC35C1,SLC37A4,SLC46A1,SLC7A7,SMARCAL1,SMARCD2,SNX10,SP110,SPINK5,SRP54,SRP72,STAT1,STAT2,STAT3,STAT5B,STIM1,STK4,STN1,STX11,STXBP2,TAP1,TAP2,TAPBP,TAZ,TBK1,TBX1,TCF3,TCIRG1,TCN2,TERC,TERT,TFRC,THBD,TICAM1,TINF2,TIRAP,TLR3,TMC6,TMC8,TMEM173,TNFAIP3,TNFRSF11A,TNFRSF13B,TNFRSF13C,TNFRSF1A,TNFRSF4,TNFSF11,TNFSF12,TPP1,TPP2,TRAF3,TRAF3IP2,TREX1,TRNT1,TTC37,TTC7A,TYK2,UNC119,UNC13D,UNC93B1,UNG,USB1,USP18,VPS13B,VPS45,WAS,WDR1,WIPF1,WRAP53,XIAP,ZAP70,ZBTB24

Agammaglobulinemia Panel

BLNK,BTK,CD79A,CD79B,IGHM,IGLL1,LRRC8A,PIK3R1,SH2D1A,TCF3

Common Variable Immunodeficiency (CVID) Panel

CD19,CD27,CD81,CR2,CTLA4,ICOS,IKZF1,IL21,IL21R,IRF2BP2,LRBA,MS4A1,NFKB1,NFKB2,PIK3CD,PIK3R1,PLCG2,PRKCD,RAC2,STAT3,TNFRSF13B,TNFRSF13C,TNFSF12,TTC37,VAV1

Hyper-IgE Syndrome Panel  

SPINK5, STAT3, TYK2,DOCK8,PGM3,SPINK5,STAT3,TYK2

Hyper-IgM Syndrome Panel

AICDA,ATM,BTK,CD40,CD40LG,MRE11,NBN,NFKBIA,PIK3CD,SH2D1A,UNG

Autoinflammatory Syndrome Panel

ACP5,ADAR,CARD14,ELANE,IFIH1,IL1RN,IL36RN,LPIN2,MEFV,MVK,NLRC4,NLRP12,NLRP3,NOD2,PLCG2,PSMB8,PSTPIP1,RNASEH2A,RNASEH2B,RNASEH2C,SAMHD1,SLC29A3,TMEM173,TNFRSF1A,TREX1,TRNT1,ADA,ADA2,ADAM17,AICDA,BTK,CD3G,CD40LG,COPA,CTLA4,CYBA,CYBB,DCLRE1C,DDX58,DKC1,DOCK8,FOXP3,G6PC3,ICOS,IL10,IL10RA,IL10RB,IL21,IL2RA,IL2RG,ISG15,ITGB2,LIG4,LRBA,NCF2,NCF4,NFAT5,NLRP1,OTULIN,PIK3CD,PIK3R1,PRG4,PSENEN,RAG1,RAG2,RBCK1,RTEL1,SH2D1A,SH3BP2,SLC37A4,STAT1,STAT3,STIM1,STXBP2,TNFAIP3,TTC7A,WAS,XIAP,ZAP70

Early Onset Inflammatory Bowel Disease Panel

ADA,ADAM17,AICDA,BTK,CD3G,CD40LG,CTLA4,CYBA,CYBB,DCLRE1C,DKC1,DOCK8,FOXP3,G6PC3,HPS1,HPS4,HPS6,ICOS,IL10,IL10RA,IL10RB,IL21,IL2RA,IL2RG,ITGB2,LIG4,LRBA,MEFV,MVK,NCF2,NCF4,NFAT5,NLRC4,PIK3CD,PIK3R1,PLCG2,PTEN,RAG1,RAG2,RET,RTEL1,SH2D1A,SLC37A4,STAT1,STAT3,STIM1,STXBP2,TTC37,TTC7A,WAS,XIAP,ZAP70

Periodic Fever Syndromes Panel

ADA2,CARD14,ELANE,IL36RN,LPIN2,MEFV,MVK,NLRC4,NLRP12,NLRP3,NOD2,PSMB8,PSTPIP1,TNFAIP3,TNFRSF1A,TRNT1

Severe Combined Immunodeficiency (SCID) Panel

ADA,AK2,ATM,BCL11B,BLM,CARD11,CD247,CD27,CD3D,CD3E,CD3G,CD40,CD40LG,CD8A,CIITA,CORO1A,DCLRE1C,DNMT3B,DOCK8,EPG5,FOXN1,IFNGR1,IKBKB,IL12RB1,IL2RA,IL2RG,IL7R,IRF8,ITGB2,ITK,JAK3,LAT,LCK,LIG4,LRBA,MAGT1,MALT1,MAP3K14,MSN,NHEJ1,ORAI1,PARN,PGM3,PIK3CD,PMS2,PNP,POLE,PRKDC,PTPRC,RAC2,RAG1,RAG2,RFX5,RFXANK,RFXAP,RMRP,RTEL1,SH2D1A,SMARCAL1,SP110,SPINK5,STAT1,STAT3,STAT5B,STIM1,STK4,TAP1,TAP2,TBX1,TYK2,WAS,ZAP70

Autoimmune Lymphoproliferative Disorders (ALPS) Panel

CASP10,CASP8,CTLA4,FADD,FAS,FASLG,ITK,KRAS,LRBA,MAGT1,NRAS,PIK3CD,PRKCD,SH2D1A,STAT3,TNFRSF6,XIAP

Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Panel

ADA,AP3B1,BLOC1S6,BTK,CD27,CD70,FADD,FAS,FASLG,GATA2,IL2RA,IL2RG,ITK,LYST,MAGT1,MEFV,MVK,MYO5A,NLRC4,NLRP3,PNP,PRF1,RAB27A,RECQL4,SH2D1A,SLC7A7,STX11,STXBP2,TNFRSF1A,UNC13D,WAS, XIAP