LIST OF DISEASES ASSESSED BY CES PANEL Category Category Related Diseases Aortopathy and connective tissue disorders Arrhythmia Cardiomyopathy Cardiology Congenital heart defect Metabolism ʷyslipidemia Other cardiovascular diseases Pulmonary hypertension AdamsʠOliver syndrome Al˕inism Cardiofaciocutaneous syndrome Cutis laxa ʷys˞eratosis congenita Ectodermal dysplasia Ehlersʠʷanlos syndrome Epidermolysis ˕ullosa Nephrology ʻereditary acrodermatitis enteropathica Dermatology ʻermans˞yʠPudla˞ syndrome ʻypotrichosis Ichthyosis ˁeuroЃ˕romatosis Pachyonychia congenita Palmoplantar ˞eratoderma Neurology Progeria and Progeroid Syndromes S˞in cancer ˇu˕erous sclerosis ˊaarden˕urg syndrome Xeroderma pigmentosum Adrenal hyperplasia ʷia˕etes ʻyperinsulinism Oncology ʻyperparathyroidism Endocrinology ʻypothyroidism Kallmann syndrome Multiple endocrine neoplasia O˕esity Pancreatitis Premature ovarian failure ENT ʻearing loss Cholestasis Ophthalmology Congenital diarrhea GI/Hepatology Congenital hepatic Ѓ˕rosis Gastrointestinal atresia ʻirschsprung disease Polycystic liver disease Anemia ʵleedingʙˇhrom˕otic disorder Hematology Pulmonology Bone marrow failure Congenital neutropenia ʻemochromatosis ˅BC mem˕rane disorder Anti˕ody deЃciencies AutoinЄammatory disorders Com˕ined ˇʢB cell deЃciencies Immunology Complement deЃciencies ʷefects in intrinsic and innate immunity Immune dysregulation Phagocytic defects Skeletal disorders Related Diseases Aminoacidopathies Car˕ohydrate disorders Congenital disorders of glycosylation Creatine ˕iosynthesis disorders Fatty acid oxidation defects Lipodystrophy Lysosomal storage disorders Organic acidemias Peroxisomal disorders Porphyria PurineʢPyrimidine meta˕olism disorders Pyruvate meta˕olism and tricar˕oxylic acid cycle defects ˈrea cycle disorders Bartter syndrome Ciliopathies ʷia˕etes insipidus ʻemolytic uremic syndrome ʻypo˞alemia ʻypomagnesemia ʻypophosphatemic ric˞ets Nephrolithiasis Nephrotic syndrome/Focal glomerulonephrosis Pseudohypoaldosteronism Renal malformation Renal tu˕ular acidosis Autism Movement disorders Neurodegenerative disorders Neuromuscular disorders Neuropathies and related disorders Sei˭ures and Brain a˕normalities Breast and gynecological cancer Colorectal cancer Endocrine cancer Gastrointestinal cancer ʻematologic malignancy Lung cancer Nervous system/˕rain cancer Pancreatic cancer Prostate cancer Renal cancer Sarcoma S˞in cancer Al˕inism Cataract/Ectopia lentis Corneal dystrophy Glaucoma Microphthalmia/Anophthalmia Nystagmus Ophthalmoplegia/Oculomotor apraxia Optic atrophy Retinal dystrophy Retino˕lastoma Bronchiectasis Central hypoventilation/Apnea Cystic Ѓ˕rosis Cystic lung disease ʻermans˞yʠPudla˞ syndrome Interstitial lung disease Primary ciliary dys˞inesia Surfactant dysfunction Amelogenesis imperfecta Arthrogryposes Cleft lip palate Craniosynostosis Exostosis Facial dysostosis Macrocephaly/Overgrowth syndrome Osteopetrosis Short stature syndrome S˞eletal dysplasia ʷ˜˦˘˔˦˘-ˆˣ˘˖˜ ˜˖ ˃˔ˡ˘˟ LIST OF PANELS FOR VARIOUS DISEASES Panel Name Related Diseases Identifying diseases associated with: Acute lymphatic leu˞emiaʟ Acute Myeloid Leu˞emiaʟ Cardiac diseaseʟ Coagulationʟ Epilepsyʟ ʻearing lossʟ In˕orn errors of meta˕olismʟ Lymphomaʟ Lysosomal storage diseaseʟ Common hereditary cancer Alzheimerʚs diseaseʟ ParkinsonϠs diseaseʟ Dementiaʟ Dystonia Bleeding DisorderCoagulopathy Panel Bleeding Disorderʟ Coagulation Cardiovascular Panel Cardiac diseases Ranges from 14 to 293 genes Covered regions ˊhole CʷSʟ hotspots Target size 3ʪʠ1ʟ1ʨ9 ˞˕ Mutation type SNˉʟ Indelʟ CNˉ Sample type ʷiffers ˕y somatic or germline panel Platform All seˤuencers from Illuminaʟ ˇhermo Fisherʟ MGIʟ PacBioʟ and Oxford Nanopore Bioinformatics pipeline Primaryʟ Secondary and ˇertiary analysis result ʛFASˇ˄ to ˉCFʟ ˉCF to Clinical reportʜ Common Hereditary Cancer Panel Medical checkup Epilepsy Panel Target Enrichment Standard AllʠInʠOne Target capture Pro˕e Target Enrichment reagents Package option Li˕rary prep Kit Options ˃ˢˢ˟˜ˡ˚ˠ˘˧˛ˢ˗ ˆ˜ˡ˚˟˘˅˘˔˖˧˜ˢˡ ʠ ʿ˜˕˥˔˥ˬ˃˥˘ˣ˔˥˔˧˜ˢˡ˞˜˧˦ ˆ˧˔ˡ˗˔˥˗ʾ˜˧ ʸ˃-˞˜˧ Beads / Polymerase ʻˬ˕˥˜˗˜˭˔˧˜ˢˡʸˡ˛˔ˡ˖˘˥ ʼˡ˖˟˨˗˘˗ ˁˢ˧˜ˡ˖˟˨˗˘˗ ʠ CACNA1B CʻCʻʷ1ʣ CʻMP2B CʻRNA4 CIZ1 ʷAO ʷCTN1 ʷNMT1 EˉC FERMT1 FIG4 ˃˥˘-˖˔ˣ˧˨˥˘˃ˢˢ˟˜ˡ˚ Epilepsy ABCA13 ABCA7 ABCB11 APP ʻNRNPA1 FˈS GBA GCʻ1 GNAL GNAO1 GRM1 GRN ʻNRNPA2B1 ʻPCA ʻPSE2 IL12RB2 KCTʷ17 KMT2B L2ʻGʷʻ LAMA3 LRRK2 MAPT MATR3 MECR NʷˈFˉ3 NEK1 NPʻS2 OPTN PANK2 PARK7 PʷP1 PINK1 PLA2G6 PNKʷ PRKN PRKRA PRNP PRRT2 PSEN1 SLC2A1 PSEN2 RELN SERPINʷ1 SETX SGCE SIGMAR1 SLC12A6 SLC19A3 SLC30A10 SLC6A3 SNCA SOʷ1 SORL1 SOX6 SPG11 S˄STM1 SRˌ SˈMF1 TAF1 TAF15 TARʷBP TBK1 TʷRʷ7 Tʻ TʻAP1 TIMM8A TOR1A TREM2 TˈBA4A TˈBB4A ˈB˄LN2 ˉAC14 ˉAPB ˉCAN ˉCP ˉPS13A WNK1 AARS ABCA1 ABCA13 ABCB11 ACTN1 ANKRʷ26 ANO6 AP3B1 BLOC1S3 BLOC1S6 BRCA1 BRCA2 BRIP1 Cʷ36 CʷAN1 COG1 COL4A4 CˌCS ʷʷX41 ʷKC1 ʷNMT1 ʷTNBP1 ELANE ERCC4 ETˉ6 EˉC F10 F11 F13A1 F13B F2 F5 F7 F8 F9 FANCA FANCB FANCC FANCʷ2 FANCE FANCF FANCG FANCI FANCL FANCM FERMT1 FERMT2 FLI1 FGA FGB FGG FREM2 FˌB1 GATA2 GFI1 GFI1B GP1BA GP1BB GP6 GP9 GRM1 ʻAX1 ʻOXA11 ʻPS1 ʻPS3 ʻPS4 ʻPS5 ʻPS6 ʻPSE2 IFNG IL12RB2 ITGA2B ITGB3 L2ʻGʷʻ LAMA3 LMAN1 LˌST MASTL MCFʷ2 MLPʻ GATA1 Mˌʻ9 MˌO5A NBEAL2 NBN NʷˈFˉ3 NʻP2 NOP10 NPʻS2 P2Rˌ12 PALB2 PʷP1 PLA2G4A PLAˈ PRF1 PRKACG RAB27A RAʷ51C RASGRP2 RBM8A RPL11 RPL35A RPL5 RPS10 RPS19 RPS24 RPS7 RˈNX1 SBʷS SEC23B SERPINʷ1 SERPINE1 SERPINF2 SLC12A6 SLFN14 SLX4 SOX6 SRC SRP72 SRˌ STIM1 SˈMF1 TBXA2R TBXAS1 ˈBE2T ˉCAN ˉIPAS39 ˉPS33B ˉWF ACTA2 ACTC1 ACTN2 AKAP9 ALMS1 TERT TINF2 WAS WIPF1 WNK1 XRCC2 ABCC9 ABCG5 ABCG8 ACTA1 TERC APOA5 APOB APOC2 APOE BAG3 RPS26 BRAF ANK2 ANKRʷ1 APOA4 CACNA1C CACNA2ʷ1 CACNB2 CALM1 CALR3 CAS˄2 CAˉ3 CBL CBS CETP COL3A1 COL5A1 COL5A2 COX15 CREB3L3 CRELʷ1 CRˌAB CSRP3 CTF1 ʷES ʷMʷ ʷNAʽC19 ʷOLK ʷPP6 ʷSC2 ʷSG2 ʷTNA EFEMP2 ELN EMʷ EˌA4 FBN1 FBN2 FʻL1 FʻL2 FKRP FKTN FXN GAA GATAʷ1 GCKR GJA5 GLA GPʷ1L GPIʻBP1 ʻAʷʻA ʻCN4 ʻFE ʻSPB8 ILK JAG1 JPʻ2 JˈP KCNA5 KCNʷ3 KCNE1 KCNE2 KCNE3 KCNʻ2 KCNJ2 KCNJ5 KCNJ8 KCN˄1 KLF10 KRAS LAMA2 LAMA4 LAMP2 LʷB3 LʷLR ʻRAS ʷSP LʷLRAP1 LMF1 LMNA LPL LTBP2 MAP2K1 MAP2K2 MIB1 MˈRC MˌBPC3 Mˌʻ11 Mˌʻ6 Mˌʻ7 MˌL2 MˌL3 MˌLK MˌLK2 MˌO6 MˌOZ2 MˌPN NEXN NKX2ʠ5 NOʷAL NOTCʻ1 NRAS PCSK9 PʷLIM3 PKP2 PLN PRʷM16 PRKAG2 PRKAR1A PTPN11 RAF1 RANGRF RBM20 RˌR1 RˌR2 SALL4 SCN1B SCN2B SCN3B SCN4B SCN5A SLC25A4 SLC2A10 SEPN1 SGCB SGCʷ NPPA SCO2 SʷʻA SGCG SʻOC2 SMAʷ3 SMAʷ4 SNTA1 SOS1 SREBF2 TAZ TBX20 TBX3 TBX5 TCAP TGFB2 TGFB3 TGFBR1 TGFBR2 TMEM43 TMPO TNNC1 TNNI3 TNNT2 TPM1 TRʷN TRIM63 TRPM4 TTN TTR TXNRʷ2 ˉCL ZBTB17 ZʻX3 ZIC3 APC ATM ATRX BARʷ1 BMPR1A BRAF BRCA1 BRCA2 BRIP1 CʻEK2 Cʷʻ1 CʷKN2A EGLN1 EGLN2 EPAS1 EPCAM FGFR1 Fʻ ʻ3F3A ʻRAS Iʷʻ2 KIF1B KMT2ʷ MAX Mʷʻ2 MEN1 MERTK MET MLʻ1 MRE11 MSʻ2 MSʻ6 MˈTˌʻ NBN NF1 NF2 PMS2 POLʷ1 POLE PRSS1 PTEN RAʷ50 RAʷ51C RAʷ51ʷ RB1 RET SʷʻA SʷʻAF2 SʷʻB SʷʻC Sʷʻʷ SMAʷ4 SPINK1 STK11 TMEM127 TP53 TSC1 TSC2 ˉʻL WT1 AARS PACKAGE COMPOSITION Compositions ANO3 C19orf12 COL6A3 PALB2 ʝ Gene AddʠOn Service: Genes can ˕e added ˕y customerʚs reˤuest Package name ANG ATP7B COL4A4 TʷRʷ7 ʷeveloped ʤʪ different panels for assessing genes of related diseases SPECIFICATION Gene count* ALS2 ATP1A3 COG1 MPL for a medical chec˞upʟ Neuromuscular diseaseʟ Par˞insonϠs diseaseʟ Al˭heimerʚs diseaseʟ ʷementiaʟ ʷystoniaʟ RASopathiesʟ Retinitis pigmentosaʟ Short statureʟ S˞in diseaseʟ and Somatic cancer 2. Collaboration with the leading CRO in the country AʷCˌʨ ATP13A2 FREM2 Alzheimer-ParkinsonDementia Panel KEY FEATURES 1. Comprehensive analysis of a broad range of diseases Gene List AARS ABCB11 AʷGRˉ1 AʷSL ALʷʻ7A1 ALG13 ARʻGEF15 ARX ASAʻ1 ATP1A2 ATP6AP2 CACNA1A CASK CʷKL5 Cʻʷ2 CʻRNA2 CʻRNA4 CʻRNA7 ABCA13 CʻRNB2 CLCN4 CLN3 CLN5 CLN6 CLN8 CNTNAP2 COG1 COL4A4 ʷCX ʷNAJC5 CSTB ʷEPʷC5 ʷLG3 ʷNMT1 ʷOCK7 ʷˌRK1A EEF1A2 EPM2A EˉC FERMT1 FOLR1 FOXG1 FREM2 GABRA1 GABRA2 GABRB3 GABRG2 GAMT GATM GNAO1 GOSR2 ʷNM1 GRIN1 GRIN2A GRM1 ʻCN1 ʻʷAC4 ʻNRNPˈ ʻPSE2 IL12RB2 I˄SEC2 KANSL1 KCNA2 KCNB1 KCNʻ5 KCNJ10 KCNMA1 KCN˄2 KCN˄3 KCNT1 KCTʷ7 L2ʻGʷʻ LAMA3 LGI1 MAGI2 MBʷ5 MECP2 MEF2C MFSʷ8 NʷˈFˉ3 NECAP1 NʻLRC1 NPʻS2 NR2F1 NRXN1 PCʷʻ19 PIGA PIGO PIG˄ PIGˉ PLCB1 PNKP PNPO POLG PPT1 PRICKLE1 PRICKLE2 PRRT2 ˄ARS RELN SCARB2 SCN1A SCN1B SCN2A SCN9A SLC13A5 SCN8A GRIN2B CTSʷ ARʻGEF9 PʷP1 SERPINʷ1 SLC12A6 SLC25A22 SLC2A1 SLC35A2 SLC6A8 SLC9A6 SMS SOX6 SPTAN1 SRPX2 SRˌ ST3GAL3 STXBP1 SˈMF1 SˌN1 SˌNGAP1 SˌNJ1 SZT2 TBC1ʷ24 TCF4 TʷRʷ7 TPP1 TSC1 TSC2 ˈBE3A ˉCAN WʷR45 WNK1 WWOX ZEB2 LIST OF PANELS FOR VARIOUS DISEASES Panel Name Related Diseases Hearing Loss-Deafness Panel Hearing lossʟ Deafness Lymphoid Leukemia Panel Lymphoma Panel Acute lymphatic leukemia Lymphoma Gene List Lysosomal storage disease Myeloid Leukemia Panel Inborn errors of matabolism Acute myeloid leukemia COL11A1 COL2A1 ʷIAPʻ1 EʷNRB EˌA1 GJB2 RRM2B RTN2 RˈBCN RˌR1 RˌR2 SACS SBF2 SCN4A KCN˄1 KCN˄4 MITF MˌO15A MˌO7A OTOF PAX3 SEPN1 SETX SGCA SGCB SGCʷ SGCE SGCG Sʻ3TC2 POˈ3F4 SIX5 SLC26A4 SNAI2 SOX10 TECTA TMC1 TMIE TMPRSS3 SLC12A6 SLC16A2 SLC1A3 SLC33A1 SLC39A4 SLC52A2 SLC9A1 SLC9A6 SMN1 ˈSʻ1C ˈSʻ2A WFS1 SNX14 SOʷ1 SPAST SPG11 SPG20 SPG21 SPG7 SPTBN2 SPTLC1 STˈB1 AARS ABCA13 ABCB11 ABL1 BRAF BTG1 CʷKN2A COG1 COL4A4 CREBBP CRLF2 ʷNM2 ʷNMT1 ʷNMT3A EP300 ETˉ6 EˉC EZʻ2 FBXW7 FERMT1 FLT3 FREM2 GATA3 GRM1 ʻPSE2 Iʷʻ1 Iʷʻ2 IKZF1 IL12RB2 IL7R JAK1 JAK2 JAK3 KʷM6A KMT2A KMT2ʷ LAMA3 NʷˈFˉ3 Neuromuscular disease STAC3 SˈCLA2 SˌNE1 SˌNE2 SˌT14 TBP TCAP TECPR2 TGM6 TK2 TMEM240 TNNI2 TNNT1 TPM2 TPM3 TPP1 TRIM32 TRPˉ4 TTBK2 TTN TTPA TTR TˈBB4A TˌMP ˉAMP1 ˉCP ˉLʷLR ˉPS13A ˉPS37A ˉRK1 WFS1 WNK1 WWOX PTPN11 L2ʻGʷʻ LEF1 LMO1 NF1 NOTCʻ1 NRAS NSʷ2 NT5C2 NˈʷT15 PAX5 PʷP1 PʻF6 PTEN RB1 RˈNX1 SERPINʷ1 SETʷ2 Sʻ2B3 SLC12A6 SOX6 SRˌ STAG2 STAT3 STAT5B SˈMF1 TBL1XR1 TCF3 TʷRʷ7 TP53 TPMT ˉCAN WNK1 WT1 AARS ABCA13 ABCB11 ALK ATM B2M BCL6 BIRC3 BRAF CACNA2ʷ4 CʷʻR1 CERKL BTK CARʷ11 Cʷ79A Cʷ79B COG1 COL4A4 CREBBP CXCR4 ʷNMT1 CRX CWC27 CˌP4ˉ2 ʷʻʷʷS ʷʻX38 ELOˉL4 EGR2 EP300 EˉC EZʻ2 FAS FAT4 FBXO11 FERMT1 FREM2 FLˉCR1 FSCN2 GNAT2 GˈCA1A GˈCA1B GˈCˌ2ʷ IFT172 IMPʷʻ1 GRM1 ʻPSE2 Iʷ3 Iʷʻ2 IKBKB IKZF1 IL12RB2 JAK3 L2ʻGʷʻ LAMA3 MˌC Mˌʷ88 NʷˈFˉ3 NFKBIE NOTCʻ1 NOTCʻ2 NPʻS2 PʷP1 PLCG1 PLCG2 POT1 PRʷM1 RʻOA RPS15 RRAGC SERPINʷ1 SF3B1 SLC12A6 SOCS1 SOX6 SRˌ STAT3 STAT5B SˈMF1 TCF3 TʷRʷ7 TET2 TNFAIP3 TNFRSF14 TP53 TP63 TRAF3 ˉCAN WNK1 XPO1 ACOX1 AGA ARSB KLF2 RASopathies SIL1 TʷP1 KRAS RASopathy Panel SCN9A SPTLC2 PTPN11 XK ˌARS ZFˌˉE26 ZFˌˉE27 ZNF592 BRAF CBL ʻRAS KRAS MAP2K1 MAP2K2 NF1 NRAS RAF1 RIT1 SʻOC2 SOS1 SPREʷ1 ABCA4 ABʻʷ12 AʷAM9 AʷGRA3 AGBL5 AIPL1 ARʻGEF18 ARL2BP ARL3 ARL6 BBS1 BBS2 BEST1 C2orf71 C8orf37 CA4 CABP4 CACNA1F CNGB3 CNNM4 CRB1 EMC1 EˌS FAM161A ʻGSNAT ʻK1 Iʷʻ3B CNGA1 CNGB1 IMPG2 KCNˉ2 MAK MERTK MˉK NEK2 NEˈROʷ1 NR2E3 NRL OFʷ1 PʷE6A PʷE6B PʷE6C PʷE6G PʷE6ʻ PITPNM3 POMGNT1 PRCʷ PRKCG PROM1 TBL1XR1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPʻ2 RAB28 RAX2 ˈBR5 Rʷʻ12 Rʷʻ5 REEP6 RGR RGS9 RGS9BP RʻO RIMS1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RPGRIP1 SAG SEMA4A TRNT1 TTC8 TˈLP1 ˈNC119 Retinitis Pigmentosa Panel IFT140 CLRN1 Retinitis pigmentosa KIAA1549 KIZ KLʻL7 LRAT RBP3 AGL ALʷOA ALʷOB ARSA ATP13A2 SLC7A14 SNRNP200 SPATA7 SPP2 TOPORS ATP7A ATP7B CLN3 CLN5 CLN6 CLN8 CTNS CTSA CTSʷ ˈSʻ2A ZNF408 ZNF513 CTSF ʷNAJC5 FˈCA1 G6PC GAA GALC GALE GALK1 GALK2 AARS ABCA13 ABCB11 ACTA2 AʷAMTS10 GALNS GALT GBA GBE1 GJB2 GLA GLB1 GNPTAB GNPTG ARSE ATP6ˉ0A2 ATP7A ATRX B3GALT6 B4GALT7 BGN BLM BRAF GNS GRN GˈSB GˌS1 GˌS2 ʻEXA ʻEXB ʻGSNAT ʻPRT1 CBL CBS CʷC6 CʷT1 CʻST14 COG1 COL10A1 COL11A1 COL1A1 LIPA AʷAMTS2 AʷAMTSL4 AGPS ALPL ʻˌAL1 IʷS IʷˈA KCTʷ7 LʷʻA MAN2B1 MANBA MCOLN1 COL1A2 COL2A1 COL3A1 COL4A4 COL5A1 COL5A2 COL9A1 COL9A2 COL9A3 MFSʷ8 NAGA NAGLˈ NEˈ1 NPC1 NPC2 PEX1 PEX10 PEX12 COMP CREBBP CRTAP CTSK CˈL7 ʷʻCR7 ʷLL3 ʷNMT1 ʷˌNC2ʻ1 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 ʷˌRK1A EBP EFEMP2 ELN EP300 ERCC6 ERCC8 EˉC EˉC2 PˌGL PˌGM SGSʻ SLC17A5 FGFR1 PFKM PʻKA2 PʻKB PʻKG2 PPT1 SLC2A2 SLC37A4 SMPʷ1 SˈMF1 TPP1 ABCʷ1 ACAʷ8 ACAʷM ACAʷS ACAʷSB BCKʷʻB ACAʷˉL BTʷ ACAT1 AʻCˌ ARG1 CPT1A ASS1 Aˈʻ BCKʷʻA CBS CPS1 CPT2 ʷBT ʷECR1 ʷʻCR7 ʷLʷ ETFA ETFB ETFʷʻ FAʻ GALE GALK1 GALT GAMT GATM GCʷʻ GCʻ1 GNMT ʻAʷʻ Short Stature Panel Short stature EXT1 EXT2 FBLN5 FBN1 FBN2 FERMT1 FGʷ1 FGF23 FGFR2 FGFR3 FKBP10 FLNA FLNB FOXE3 FREM2 Gʻ1 GʻR GʻRʻR GLI2 GLI3 GNAS GNPAT GRM1 ʻESX1 ʻPSE2 ʻRAS KCNJ2 KCNJ8 ʻSPG2 IFITM5 IFT80 IGF1 KʷM6A KMT2ʷ KRAS L2ʻGʷʻ LAMA3 LBR LʻX3 LIFR LOX LTBP2 LZTR1 MAP2K1 MAP2K2 MAT2A IGF1R MATN3 IL12RB2 MEʷ12 INPPL1 MFAP5 Mˌʻ11 NIPBL NPʻS2 ʻAʷʻA ʻAʷʻB ʻLCS HMGCL HPD HˆDʤʪʵʤʣ IVD LMBRD1 MAT1A MˌLK NBAS NBN NʷˈFˉ3 NEK1 MCCC1 MCCC2 MLˌCʷ MMAA MMAB MMACʻC MMAʷʻC MMˈT MTʻFR NSʷʻL OBSL1 ORC1 ORC4 ORC6 P3ʻ1 PCNT PʷP1 PEX7 MTR MTRR OPA3 OTC PAʻ PCBʷ1 PCCA PCCB PTS PʻEX PLOʷ1 POR POˈ1F1 PPIB PPP1CB PRKG1 PROP1 PTPN11 ˄ʷPR SLC22A5 SLC25A13 NRAS SLC25A20 SLC6A8 TAT TAZ PˌCR1 RAF1 RIT1 RMRP ROR2 RPS6KA3 RˈNX2 SBʷS ASXL1 ATRX BCOR BCORL1 BRAF CALR CBL CBLB SERPINʷ1 SERPINʻ1 SʻOC2 SKI SLC12A6 SLC26A2 SLC2A10 SLC34A3 SLC35ʷ1 CEBPA CSF3R ʷʷX41 ʷNMT3A ETˉ6 EZʻ2 FLT3 GATA1 GATA2 SLC39A13 SMAʷ3 SMARCAL1 SMC1A SMC3 SMS SOS1 SOS2 SOX3 ʻRAS Iʷʻ1 KIT TCN2 NF1 ANKRʷ26 RIN2 Iʷʻ2 JAK2 JAK3 KʷM6A KRAS MPL SOX6 SOX9 SPREʷ1 SRCAP SRˌ SˈMF1 TʷRʷ7 TGFB1 TGFB2 NOTCʻ1 NPM1 NRAS PʷGFRA PʻF6 PPM1ʷ PTPN11 RAʷ21 RˈNX1 TGFB3 TGFBR1 TGFBR2 TʻRB TRIM37 TRIP11 TRPS1 TRPˉ4 TTC21B SETBP1 SF3B1 SMC1A SMC3 SRSF2 STAG1 STAG2 STAT3 TET2 ˉCAN WʷR19 WʷR35 WNK1 WRN ABCC6 ALAS2 ALʷʻ3A2 ˈ2AF1 WT1 ZRSR2 ABCA12 ABCB6 ABʻʷ5 AʷAMTS2 AʷAR ALAʷ AARS ABCB7 ABCʷ1 ABʻʷ12 ACAʷ9 ACAʷL ACAʷM ACO2 ACTA1 ALOX12B ALOXE3 AP1S1 ATM ATP2A2 ATP2C1 ATPʩVʣA2 BLM CARD1ʧ AʷCK3 AFG3L2 AGL AIFM1 ALʷʻ3A2 AMPʷ1 ANO10 ANO5 AP4B1 Cʷʻ3 CʷSN CLʷN1 COL17A1 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 ARSA CTSC CˌP4F22 AP4E1 Neuromuscular disease MAPK1 Neuromuscular Panel NPʻS2 TP53 Neuromuscular Panel Gene List COCʻ KCNE1 ASL Metabolic Disorders Panel Related Diseases CLRN1 GJB6 ABCʷ1 Lysosomal Storage Diseases Panel Panel Name Cʷʻ23 ATCAˌ ATL1 ATM COL7A1 ʷKC1 ʷOCK8 ʷSG1 ATP2A1 ATP7A ATP7B ATP8A2 BAG3 BEAN1 BIN1 BSCL2 C10orf2 ʷSG4 ʷSP ʷST EBP ECM1 EʷA EʷAR EʷARAʷʷ EFEMP2 C12orf65 C19orf12 AP4M1 CACNA1A AP4S1 CACNA1S AP5Z1 CACNB4 APTX CAPN3 CASK CAˉ3 CCʷC78 ELN ERCC2 ERCC3 ERCC4 ERCC5 EXPʻ5 FANCA FANCC FANCG CPOX CTC1 ʷʷB2 CCʷC88C CFL2 CʻAT CʻRNA1 CʻRNB1 CʻRNʷ CʻRNE CʻRNG CLCN1 FECʻ FERMT1 FLCN FLG GJB2 GJB3 GJB4 GJB6 GNAS CLCN2 CLN5 CNTN1 COL6A1 COL6A2 COL6A3 COL˄ CPT1B CPT2 GORAB GPR143 GSN GTF2ʻ5 ʻFE ʻMBS ʻR IL36RN ITGA3 CRˌAB CTʷP1 Skin Disorder Panel Skin diseases CWF19L1 CˌP27A1 CˌP2ˈ1 CˌP7B1 ʷAG1 ʷCTN1 ʷʷʻʷ1 JˈP KIT KRT1 KRT10 KRT14 KRT16 ʷʷʻʷ2 ʷES ʷMʷ ʷNAJB2 ʷNAJB6 ʷNM2 ʷNMT1 ʷOK7 ʷˌNC1ʻ1 KRT2 KRT5 KRT6A KRT6B KRT6C KRT81 KRT83 KRT86 KRT9 ʷˌSF EEF2 EGR2 ELOˉL4 ELOˉL5 EMʷ ERLIN2 ETFA ETFB LAMA3 LAMB3 LAMC2 LIPʻ LIPN LOR LPAR6 LˌST MBTPS2 FGʷ4 ITGB4 KRT17 FA2ʻ FAM134B FGF14 FʻL1 FIG4 FKRP FKTN NF1 NF2 NʻP2 NIPAL4 OCA2 PKP1 FLˉCR1 FRMʷ7 FˈS FXN GAA GAʷ1 GALC GAN GARS PLOʷ1 PNPLA1 POFˈT1 POGLˈT1 POLʻ POMP PPOX PRKAR1A PTCʻ1 GBA2 GʷAP1 GJB1 GJC2 GLA GLE1 GNB4 GNE GOSR2 PTCʻ2 PˌCR1 REC˄L4 RTEL1 SLC27A4 SLC39A4 SLC45A2 SLˈRP1 SNAP29 SPREʷ1 TERC NSʷʻL PLEC GRM1 GˌS1 ʻAʷʻA ʻOXʷ10 ʻSPB1 SPINK5 ST14 STAT3 STS SˈFˈ TERT TGM1 ʻSPB8 ʻSPʷ1 ʻSPG2 IGʻMBP2 IKBKAP ISPʷ ITGA7 ITPR1 JPʻ3 TGM5 TINF2 TNXB TRPˉ3 TSC1 TSC2 TTR TˌK2 TˌR KCNA1 KCNC3 KCNʷ3 KCNE3 KCNJ10 KCNJ18 KIAA0196 KIF1A TˌRP1 ˈROʷ ˈROS WAS WRAP53 XPA XPC ZMPSTE24 KIF5A KLʻL40 GRIʷ2 ʻINT1 NOP10 KBTBʷ13 GPR143 ʻAʷʻB FLNC ITGA6 KIF1B KIF1C L1CAM LAMA1 LAMA2 LARGE ABL1 AKT1 ALK BRAF BRCA1 BRCA2 CDH1 LʷB3 LITAF LMNA LPIN1 LRSAM1 MARS MARS2 MATR3 MEʷ25 CʷKN2A CSF1R CTNNB1 ʷLC1 EGFR ERBB2 ERBB4 ESR1 FBXW7 MFN2 MPZ MRE11A MTM1 MTMR14 MTMR2 MTPAP MTTP MˈSK FGFR1 FGFR2 FGFR3 FTSJ3 GNA11 GNA˄ GNAS ʻNF1A ʻRAS KLʻL41 Solid Tumor Panel Somatic cancer APC ATM MˌF6 Mˌʻ2 Mˌʻ7 MˌOT NʷRG1 NEB NEFL NGF NIPA1 Iʷʻ1 Iʷʻ2 JAK2 JAK3 KCNB2 KʷR KIT KRAS NOP56 NTRK1 OPA1 OPA3 OPʻN1 PABPN1 PANK2 PʷK3 PʷˌN MLʻ1 MˌC MˌCN NOTCʻ1 NRAS NRXN1 PʷGFRA PIK3CA PTEN PEX7 PFKM PGAM2 PʻKA1 Pʻˌʻ PLEC PLEKʻG5 PLP1 PMM2 PTPN11 RB1 RBAK RET ROS1 SMAʷ4 SMARCB1 SMO SMˈRF1 MET PMP22 PNKP PNPLA6 POLG POLG2 POMGNT1 POMT1 POMT2 PRKCG SRC SSFA2 STK11 TP53 ˉʻL ZNF594 PRPS1 PRX PTF1A PTRF PˌGM RAB7A RAPSN REEP1 RNF216