OVERVIEW

WHAT IS VERAgene

VERAgene is the only non-invasive prenatal test that can simultaneously screen for aneuploidies, microdeletions and single gene diseases. The diseases screened by VERAgene are associated with moderate to severe phenotype with significant impact on the quality of life. By combining detection of aneuploidies and microdeletions with the screening of monogenic diseases, VERAgene provides a comprehensive solution to prospective parents.

HOW IT WORKS

VERAgene needs a maternal blood sample, and a buccal swab sample from the biological father. The maternal blood contains cell-free DNA from both the mother and the fetus. This cell-free DNA is isolated and analyzed along with the father’s DNA sample for any potential genetic mutations using next generation sequencing. Sophisticated bioinformatics algorithms are then used to compute the risk of the fetus having a monogenic disease.

The results are sent to the clinician who communicates them to the parents and provides the necessary counseling.

UNIQUE FEATURES OF VERAgene

VERAgene captures, counts and analyses cfDNA fragments from selected genomic regions using targeted enrichment and next generation sequencing (NGS) with proprietary genetic and analytical tools.

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Targeted genomic analysis
VERAgene avoids genomic regions with complex architecture that affect test performance thereby increasing precision and accuracy

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High-read depth
Captured fragments are counted several hundreds of times using NGS to achieve very high statistical accuracy and precision

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Accurate fetal fraction
A proprietary bioinformatics software accurately calculates fetal fraction which increases the robustness and reliability

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Multi-engine analysis pipelines
Proprietary bioinformatics pipelines analyze the sequencing data produced from each test. This multi-engine analysis increases the sensitivity and specificity of aneuploidy, microdeletion and fetal gender detection.

VERAgene VS CONVENTIONAL TESTS

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WHAT DOES VERAgene TEST FOR?

AUTOSOMAL ANEUPLOIDIES

Down syndrome (Trisomy 21)
Edwards syndrome (Trisomy 18)
Patau syndrome (Trisomy 13)

SEX CHROMOSOME ANEUPLOIDIES

Turner syndrome (Monosomy X)
Triple X syndrome (Trisomy X)
Klinefelter syndrome (XXY)
Jacobs syndrome (XYY)
XXYY syndrome

MICRODELETIONS

DiGeorge syndrome (22q11.2)
1p36 deletion syndrome
Smith-Magenis syndrome (17p11.2)
Wolf-Hirschhorn syndrome (4p16.3)

MONOGENIC DISORDERS

100 single gene (monogenic) disorders analyzed in the biological parents. See below for complete list.

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TYPES OF CONDITIONS DETECTED BY VERAgene

Genetic conditions are caused by unwanted changes in the genome that happen during conception. Three types of genetic conditions are detected in VERAgene:

ANEUPLOIDIES
CONDITIONCAUSE
Down syndrome (Trisomy 21)Three copies of chromosome 21
Edwards syndrome (Trisomy 18)Three copies of chromosome 18
Patau syndrome (Trisomy 13)Three copies of chromosome 13
Turner syndrome (Monosomy X)One chromosome X
Triple X syndrome (Trisomy X)Three copies of chromosome X
Klinefelter syndrome (XXY)Extra copy of chromosome X
Jacobs syndrome (XYY)Extra copy of chromosome Y
XXYY syndromeExtra copies of chromosomes X and Y
MICRODELETIONS
CONDITIONCAUSE
DiGeorge syndrome (22q11.2)Deletion of part of chromosome 22
1p36 deletion syndromeDeletion of part of chromosome 1
Smith-Magenis syndrome (17p11.2)Deletion of part of chromosome 17
Wolf-Hirschhorn syndrome (4p16.3)Deletion of part of chromosome 4
MONOGENIC DISEASES
See a complete list of monogenic diseases screened below.

WHAT SHOULD I ASK MY DOCTOR?

WHAT IS A NON-INVASIVE PRENATAL TEST (NIPT)?

It is a test that a pregnant woman can take to check for genetic conditions of the fetus before birth. NIPTs are screening tests which are highly accurate, particularly for the detection of chromosomal aneuploidies. NIPTs screen for the most common and severe chromosomal aneuploidies, such as Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18) and Patau syndrome (Trisomy 13) with higher accuracy than conventional screening tests, such as ultrasounds and biochemical screening. At the same time, NIPTs can screen for sex chromosome aneuploidies and microdeletions which may not have biochemical or ultrasound findings.

WHY SHOULD I DO THE VERAgene TEST?

Microdeletions and single gene diseases – unlike aneuploidies – do not have a maternal age-associated risk, and most of them do not have chemical or ultrasound biomarkers that can help in early detection. The cumulative risk for the fetus to be affected by one of the genetic conditions screened by VERAgene is 1 in 50 in moderate to high risk pregnancies and could be higher in some ethnic populations where some of the conditions are more prevalent. VERAgene can accurately screen for these conditions to help parents take informed decisions about possible treatments and clinical management.

IS THERE AN AGE LIMIT FOR VERAgene?

No. VERAgene can be done by pregnant women of all ages because it screens for genetic conditions that don’t have any maternal age-associated risk.

WHEN CAN I DO THE TEST?

VERAgene test can be done as early as the 10th week of gestation.

HOW CAN I TAKE THE VERAgene TEST?
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Be at least 10 weeks pregnant

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Ask your doctor about taking VERAgene

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Your doctor will collect a blood sample from you and a buccal swab from the biological father

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The samples will be analyzed in our laboratories

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The test results will be sent to your doctor in 4-7 working days

ACCEPTED MATERIAL

2x 10 ml blood in BCT cell free DNA tubes (from the mother) and 1 buccal swab (from biological father)

TURNAROUND TIME

4-7 working days from sample receipt to the laboratory

MONOGENIC DISEASES TESTED BY VERAgene
DETECTION FREQUENCY OF MONOGENIC DISEASES TESTED BY VERAgene

OUR TESTS

Genes: COL2A1

Genes: FGFR3

Genes: CYP11B1, CYP11B2, CYP17A1, CYP21A2, HSD3B2

Genes: ABCD1, ACAD9, ACADM, ACOX1, ACSF3, ADAMTS2, AGA, AGL, AGPS, AGXT, AIRE, ALDH3A2, ALDOB, ALG6, ALMS1, ALPL, AMT, AQP2, ARSA, ASL, ASNS, ASPA, ASS1, ATM, ATP6V1B1, ATP7B, BBS1, BBS12, BCKDHB, BCS1L, BLM, BSND, BTD, CAPN3, CBS, CEP290, CERKL, CFTR, CHM, CHRNE, CIITA, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGB3, COL4A3, COL4A5, COL7A1, CPT1A, CPT2, CRB1, CTNS, CTSK, CYBB, CYP11B2, CYP19A1, CYP27A1, DCLRE1C, DHCR7, DHDDS, DLD, DMD, DNAH5, DNAI1, DNAI2, DYSF, EDA, EIF2B5, ELP1, EMD, ESCO2, ETFA, ETHE1, EYS, F11, F5, F9, FAH, FAM161A, FANCC, FANCG, FMR1, G6PC, GAA, GALC, GALK1, GALT, GBA, GBE1, GCDH, GFM1, GJB2, GJB6, GLA, GLDC, GNE, GNPTAB, GNPTG, GNS, GRHPR, HADHA, HAX1, HBA1, HBA2, HBB, HEXA, HEXB, HJV, HGSNAT, HLCS, HMGCL, HOGA1, HPS1, HPS3, HSD17B4, HYAL1, HYLS1, IDS, IL2RG, IVD, LAMC2, LCA5, LDLR, LHCGR, LHX3, LIFR, LIPA, LOXHD1, LPL, LRPPRC, MCCC1, MCCC2, MCOLN1, MEFV, MFSD8, MKS1, MLC1, MMAA, MMAB, MMACHC, MMADHC, MPI, MPV17, MTM1, MTRR, MTTP, MMUT, NAGLU, NAGS, NBN, NDUFAF5, NDUFS6, NPC1, NPC2, NPHS1, NPHS2, NR2E3, NTRK1, OAT, OPA3, OTC, PAH, PCDH15, PDHA1, PDHB, PEX1, PEX10, PEX2, PEX6, PEX7, PFKM, PHGDH, PKHD1, PMM2, PPT1, PROP1, PSAP, PTS, PUS1, PYGM, RAB23, RAG2, RAPSN, RARS2, RLBP1, RMRP, RPGR, RS1, SACS, SAMHD1, SEPSECS, SGCA, SGCB, SGCG, SLC12A6, SLC17A5, SLC25A13, SLC25A15, SLC26A2, SLC26A4, SLC35A3, SLC37A4, SLC4A11, SLC6A8, SLC7A7, SMARCAL1, SMN1, SMN2, SMPD1, STAR, SUMF1, TFR2, TGM1, TH, TMEM216, TPP1, TRMU, TSFM, TTPA, TYMP, UGT1A1, USH1C, USH2A, VPS13A, VPS45, VPS53, VRK1, VSX2, WNT10A

Genes: ACADM, ASPA, BLM, CFTR, DHCR7, DMD, ELP1, FANCC, FMR1, GALT, GBA, GJB2, GJB6, HBA1, HBA2, HBB, HEXA, MCOLN1,  PAH,  SMN1, SMN2, SMPD1

Genes: BLNK, BTK, CD79A, CD79B, IGLL1, LRRC8A, PIK3R1

Genes: JAG1, NOTCH2

Genes: ADH1B, ALDH2

Genes: HBA1, HBA2

Genes: COL4A3, COL4A4, COL4A5

Genes: APP, PSEN1, PSEN2

Genes: Amfira PGT-A panel tests for whole, partial or mosaic chromosomal aneuploidies on all 23 chromosomal pairs. Selected male polyploidies are reported, along with segmental or structural aneuploidies over 10Mb.

Genes: Amfira PST-SR includes PGT-A analysis, testing for whole, partial and mosaic changes on all 23 chromosomal pairs. Selected male polyploidies are reported, along with segmental or structural aneuploidies over 10Mb.

Genes: TTR

Genes: ACTA2, BGN, CBS, COL1A1, COL3A1, COL4A5, COL5A1, COL5A2, EFEMP2, ELN, EMILIN1, FBLN5, FBN1, FBN2, FLNA, FOXE3, GATA5, LOX, LTBP3, MAT2A, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, ROBO4, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, SMAD6, TGFB2, TGFB3, TGFBR1, TGFBR2

Genes: FGFR2

Genes: ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CALR3, CASQ2, CAV3, CRYAB, CSRP3, DES, DMD, DSC2, DSG2, DSP, FHL1, FKTN, FLNC, GLA, GPD1L, HCN4, ILK, JPH2, JUP, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ8, KCNQ1, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEBL, NEXN, PKP2, PLN, PRDM16, PRKAG2, RAF1, RANGRF, RBM20, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A, SGCD, TAZ, TCAP, TECRL, TGFB3, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRPM4, TTN, VCL

Genes: DSC2, DSG2, DSP, JUP, LMNA, PKP2, TGFB3, TMEM43

Genes: ABCB7, ABHD12, ADGRG1, AFG3L2, AHI1, AMACR, ANO10, APTX, ARL13B, ARSA, ATCAY, ATG5, ATM, ATP1A3, ATP8A2, ATXN10, BTD, CA8, CACNA1A, CACNA1G, CACNB4, CAPN1, CC2D2A, CCDC88C, CEP290, CEP41, CHP1, CLCN2, CLN5, CLN6, COA7, COQ8A, CP, CPLANE1, CSPP1, CWF19L1, CYP27A1, DAB1, DARS2, DLAT, DNAJC19, DNAJC5, DNMT1, EEF2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, FAT1, FAT2, FGF14, FLVCR1, GALC, GBA, GBA2, GCLC, GDAP2, GJB1, GJC2, GOSR2, GRID2, GRM1, INPP5E, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, KIAA0586, KIF1C, KIF26B, KIF7, MARS2, MME, MRE11, MTPAP, NEU1, NKX6-2, NPC1, NPC2, NPHP1, OFD1, OPA1, OPA3, PANK2, PDE10A, PDE6D, PDHX, PDYN, PEX10, PEX2, PIK3R5, PLA2G6, PLD3, PMPCA, PNKP, PNPLA6, POC1B, POLG, POLR3A, PRKCG, PRNP, PUM1, RNF216, RPGRIP1L, RUBCN, SACS, SCN2A, SCYL1, SETX, SIL1, SLC17A5, SLC1A3, SLC9A1, SNX14, SPG7, SPTBN2, STUB1, SYNE1, SYT14, TCTN1, TCTN2, TCTN3, TDP1, TDP2, TGM6, TMEM138, TMEM216, TMEM231, TMEM237, TMEM240, TMEM67, TPP1, TRPC3, TTBK2, TTC21B, TTPA, UBA5, UBR4, VAMP1, VLDLR, VPS13D, VWA3B, WDR81, WFS1, WWOX, XRCC1, ZFYVE26, ZNF423

Genes: CACNA1A, CACNB4, KCNA1, SCN2A, SLC1A3, UBR4

Genes: AFG3L2, KIF1C, MTPAP, SACS, SPG7, VAMP1

Genes: AFG3L2, CAPN1, CHP1, GBA2, GJC2, KIF1C, MARS2, MTPAP, NKX6-2, POLR3A, SACS, SPG7, VAMP1, ZFYVE26

Genes: ABCB7, ABHD12, ADGRG1, AFG3L2, AHI1, AMACR, ARL13B, ARSA, ATCAY, ATM, ATP1A3, ATP8A2, ATXN10, BTD, CA8, CAPN1, CC2D2A, CEP290, CEP41, CLCN2, CLN5, CLN6, COQ8A, CP, CPLANE1, CSPP1, CYP27A1, DARS2, DLAT, DNAJC19, DNMT1, FLVCR1, GALC, GBA, GBA2, GJB1, GOSR2, INPP5E, KIAA0586, KIF1C, KIF7, MARS2, MRE11, MTPAP, NPC1, NPC2, NPHP1, OFD1, OPA1, OPA3, PANK2, PDE10A, PDE6D, PEX10, PEX2, PLA2G6, PNPLA6, POC1B, POLG, POLR3A, RPGRIP1L, SACS, SIL1, SLC17A5, SPG7, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, VAMP1, VLDLR, WFS1, ZNF423

Genes: ALDH5A1, AP1S2, ARX, ATRX, AUTS2, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNOT3, CNTNAP2, DHCR7, DPP6, EHMT1, FGD1, FOXG1, FOXP1, FOXP2, GNAI1, GRIN2B, HPRT1, KDM5C, L1CAM, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, OPHN1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAI1, RPL10, SCN1A, SHANK2, SHANK3, SLC9A6, SMARCB1, SMC1A, SMC3, TBR1, TCF4, TMLHE, TSC1, TSC2, UBE2A, UBE3A, VPS13B, ZEB2

Genes: ABCB7, ADGRG1, AFG3L2, ATP1A3, CACNA1A, CACNA1G, CACNB4, CCDC88C, DAB1, DNAJC5, DNMT1, EEF2, ELOVL4, ELOVL5, FGF14, GBA2, GJB1, ITPR1, KCNA1, KCNC3, KCND3, MME, PDYN, POLG, PRKCG, PRNP, PUM1, SCN2A, SLC1A3, SPTBN2, SYT14, TGM6, TMEM240, TRPC3, TTBK2, VAMP1

Genes: ABCB7, ADGRG1, AFG3L2, AHI1, AMACR, ANO10, APTX, ARL13B, ARSA, ATCAY, ATG5, ATP8A2, ATXN10, BTD, CA8, CAPN1, CC2D2A, CEP290, CEP41, CHP1, CLCN2, CLN5, COA7, COQ8A, CP, CPLANE1, CSPP1, CWF19L1, CYP27A1, DARS2, DLAT, DNAJC19, DNAJC5, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FLVCR1, GALC, GBA, GBA2, GCLC, GDAP2, GOSR2, GRID2, GRM1, INPP5E, KCNJ10, KIAA0586, KIF1C, KIF7, MARS2, MRE11, MTPAP, NEU1, NPC1, NPC2, NPHP1, OPA1, OPA3, PANK2, PDE10A, PDE6D, PDHX, PEX10, PEX2, PIK3R5, PMPCA, PNKP, PNPLA6, POC1B, POLG, RNF216, RPGRIP1L, RUBCN, SACS, SCYL1, SETX, SIL1, SLC17A5, SLC9A1, SNX14, SPG7, SPTBN2, STUB1, SYNE1, SYT14, TCTN1, TCTN2, TCTN3, TDP1, TDP2, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TPP1, TTC21B, TTPA, UBA5, VLDLR, VPS13D, VWA3B, WDR81, WFS1, WWOX, XRCC1, ZNF423

Genes: AR, DMRT1, NR5A1, TEX11

Genes: ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, IFT27, LZTFL1, MKKS, MKS1, TRIM32, TTC8

Genes: ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8orf37, CCDC28B, CEP290, IFT172, IFT27, IFT74, LZTFL1, MKKS, MKS1, NPHP1, SDCCAG8, TMEM67, TRIM32, TTC8, WDPCP

Genes: HBB

Genes: GATA5, NOTCH1, ROBO4, SMAD6

Genes: AKT1, APC, ARID1A, ATM, CDKN2A, CREBBP, E2F3, EP300, ERBB2, ERCC2, FANCC, FGFR2, FGFR3, HRAS, KDM6A, KRAS, MDM2, MSH2, NRAS, PIK3CA, PIK3CB, PTCH1, PTEN, RB1, STAG2, TERT, TP53, TSC1; Fusion Genes: FGFR3-BAIAP2L1, FGFR3-TACC3

Genes: AHI1, ARFGEF2, ARX, CASK, CC2D2A, CEP290, CEP41, DCX, EOMES, FKRP, FKTN, FLNA, GPR56, KIF7, LAMC3, LARGE, MKS1, NDE1, NPHP1, OCLN, OPHN1, PAFAH1B1, POMGNT1, POMT1, POMT2, PQBP1, RARS2, RELN, RPGRIP1L, SRPX2, TMEM138, TMEM216, TMEM237, TMEM67, TSEN2, TSEN34, TSEN54, TUBA1A, TUBA8, TUBB2B, TUBB3, VLDLR, VRK1

Genes: ARX, DCX, KATNB1, MACF1, NDE1, PAFAH1B1, RELN, TMTC3, TUBA1A

Genes: AMPD2, CHMP1A, CLP1, COASY, EXOSC3, EXOSC8, EXOSC9, PCLO, RARS2, SEPSECS, SLC25A46, TBC1D23, TOE1, TSEN15, TSEN2, TSEN34, TSEN54, VPS53, VRK1

Genes: TBCD, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1

Genes: ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, MLH1, MLH3, MSH2, MSH3, MSH6, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53

Genes: ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, MRE11A, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD51C, RAD51D, RECQL, SMARCA4, SMARCB1, STK11, TP53, XRCC2

Genes: AKT1, ATM, BRCA1, BRCA2, CCND1, CHEK2, ERBB2, FAT1, FGFR1, MDM2, MYC, NF1, NTRK1, NTRK2, NTRK3, PALB2, PIK3CA, PTEN, RAD51C, RB1, STK11

Genes: CACNA1C, CACNB2, GPD1L, HCN4, KCNE3, SCN1B, SCN3B, SCN5A, TRPM4

Genes: HTRA1, NOTCH3

Genes: BRAF, KRAS, MAP2K1, MAP2K2

Genes: CALM1, CALM2, CALM3, CASQ2, KCNJ2, RYR2, TECRL, TRDN

Genes: HLA-DQA1, HLA-DQB1

Genes: GDAP1, GJB1, HINT1, MFN2, MPZ, PMP22, SH3TC2

Genes: ATL1, DNM2, EGR2, GARS, GDAP1, HSPB1, IGHMBP2, KIF1B, LITAF, MFN2, MPZ, NEFL, NGF, PMP22, RAB7A

Genes: AARS, DYNC1H1, GDAP1, HSPB1, HSPB8, LRSAM1, MFN2, MPZ

Genes: ATXN1, ATXN2, ATXN3, ATXN7, TBP, ATN1

Genes: ADCY5, ARSA, ATM, ATN1, ATXN1, ATXN2, ATXN3, ATXN7, FRRS1L, FTL, GM2A, GNAO1, KCNA1, NKX2-1, PDE10A, PRNP, RNF216, SETX, TBP, VPS13A, XK

Genes: APOA5, APOC2, GPIHBP1, LMF1, LPL

Genes: ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SOX11, SOX4

Genes: APC, BMPR1A, EPCAM*, GREM1*, MLH1, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, SMAD4, STK11

Genes: APC, AXIN, BMPR1A, EPCAM, GALNT12, GREM1, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, RNF43, RPS20, SMAD4, STK11

Genes: AKT1, ALK, APC, ATM, BRAF, EPCAM, ERBB2, JAK1, KRAS, MET, MLH1, MSH2, MSH6, NRAS, NTRK1, NTRK2, NTRK3, PIK3CA, PMS2, PTEN, RET, ROS1, STK11, TP53

Genes: ADA, AK2, CD247, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CIITA, CORO1A, DCLRE1C, DOCK8, FOXN1, IKZF1, IL2RG, IL7R, ITK, JAK3, LCK, LIG4, MAGT1, NHEJ1, ORAI1, PNP, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RFXAP, RHOH, RMRP, STAT5B, STIM1, STK4, TAP1, TAP2, TAPBP, UNC119, ZAP70

Genes: APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FH, FLCN, GREM1, MAX, MEN1, MET, MITF, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PMS2, POLD1, POLE, POT1, PTCH1, PTEN, RAD51C, RAD51D, RET, RNF43, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, STK11, SUFU, TMEM127, TP53, VHL

Genes: BMP4, DSTYK, EYA1, HNF1B, MUC1, PAX2, SALL1, SIX1, SIX2, SIX5, SOX17, UMOD, UPK3A, WNT4, WT1

Genes: ACE, ACTA2, ACTG2, AGT, AGTR1, ANOS1, BICC1, BMP7, CDC5L, CHD1L, CHRM3, DACH1, ETV4, ETV5, FGF20, FOXC1, FOXC2, FRAS1, FREM1, FREM2, GATA3, GDNF, GREM1, GRIP1, HPSE2, ITGA3, ITGA8, LRIG2, PAX8, REN, RET, ROBO2, TRAP1, UPK2, ZIC3

Genes: ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, B4GALT1, CAD, CCDC115, COG1, COG4, COG5, COG6, COG7, COG8, DDOST, DOLK, DPAGT1, DPM1, DPM2, DPM3, MGAT2, MOGS, MPDU1, MPI, NGLY1, PGM1, PMM2, RFT1, SLC35A1, SLC35A2, SLC35C1, SLC39A8, SRD5A3, SSR4, STT3A, STT3B, TMEM165, TMEM199, TUSC3

Genes: ACTC1, ACVR2B, ADAMTS10, ARHGAP31, BMPR2, BRAF, CBL, CFAP53, CHD7, CITED2, CREBBP, CRELD1, DNAH11, DNAH5, DNAI1, DOCK6, DTNA, EHMT1, ELN, EOGT, EP300, EVC, EVC2, FBN1, FBN2, FLNA, FOXC1, FOXH1, FOXP1, GATA4, GATA5, GATA6, GDF1, GJA1, GPC3, HRAS, JAG1, KDM6A, KMT2D, KRAS, LEFTY2, LZTR1, MAP2K1, MAP2K2, MED12, MED13L, MGP, MMP21, MRAS, MYH11, MYH6, NF1, NIPBL, NKX2-5, NKX2-6, NODAL, NOTCH1, NOTCH2, NPHP4, NR2F2, NRAS, NSD1, PITX2, PKD1L1, PPP1CB, PTPN11, RAF1, RBM10, RBPJ, RIT1, RRAS, SALL1, SALL4, SEMA3E, SHOC2, SMAD6, SOS1, SOS2, SPRED1, TAB2, TBX1, TBX20, TBX3, TBX5, TFAP2B, TGFBR1, TGFBR2, TLL1, ZEB2, ZFPM2, ZIC3

Genes: AP3B1, CLPB, CSF3R, CXCR4, DNAJC21, ELANE, G6PC3, GATA1, GATA2, GFI1, HAX1, HYOU1, JAGN1, LAMTOR2, LYST, MRTFA, RAB27A, SBDS, SLC37A4, SMARCD2, TAZ, USB1, VPS13B, VPS45, WAS, WDR1

Genes: ANKRD11, BRD4, HDAC8, NIPBL, RAD21, SMC1A, SMC3

Genes: HRAS

Genes: FGFR1, FGFR2, FGFR3, TCF12, TWIST1

Genes: ALX4, BMP4, CCBE1, CDC45, CEP120, EFNB1, ERF, ESCO2, FGFR1, FGFR2, FGFR3, FREM1, GLI3, IFT122, IFT140, IFT43, IL11RA, IMPAD1, IRX5, KRAS, MEGF8, MSX2, MYH3, P4HB, POR, RAB23, RECQL4, SCARF2, SEC24D, SKI, SMAD6, SPECC1L, STAT3, TCF12, TGFBR1, TGFBR2, TWIST1, WDR19, WDR35, ZIC1

Genes: UGT1A1

Genes: NOD2

Genes: FGFR2

Genes: ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, EFEMP2, ELN, FBLN5, LTBP4, PYCR1

Genes: CFTR

Genes: ACTG1, COCH, COL11A2, DIAPH1, GSDME, KCNQ4, MYH14, WFS1

Genes: ACTG1, CCDC50, CD164, CEACAM16, COCH, COL11A1, COL11A2, COL4A6, CRYM, DIABLO, DIAPH1, DIAPH3, DMXL2, EDN3, EDNRB, EYA4, FAM189A2, GJB2, GJB3, GJB6, GRHL2, GSDME, HOMER2, KCNQ4, KITLG, LMX1A, MCM2, MIR182, MIR183, MIR96, MITF, MYH14, MYH9, MYO6, MYO7A, NLRP3, OSBPL2, P2RX2, PAX3, PDE1C, PLS1, POU3F4, POU4F3, PRPS1, REST, SIX1, SLC17A8, SMPX, SOX10, TBC1D24, TECTA, TJP2, TMC1, TNC, WFS1

Genes: ILDR1, MYO15A, OTOA, STRC, TMC1, TMPRSS3

Genes: ABHD12, ADCY1, ADGRV1, ATP6V1B1, BDP1, BSND, CABP2, CACNA1D, CDC14A, CDH23, CEACAM16, CIB2, CLDN14, CLDN9, CLIC5, COL11A2, COL4A6, DCDC2, EDN3, EDNRB, ELMOD3, EPS8, EPS8L2, ERAL1, ESPN, ESRP1, ESRRB, FOXI1, GAB1, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRAP, GRXCR1, GRXCR2, HGF, HSD17B4, ILDR1, KARS, KCNE1, KCNJ10, KCNQ1, LARS2, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MET, MPZL2, MSRB3, MYO15A, MYO3A, MYO6, MYO7A, NARS2, OTOA, OTOF, OTOG, OTOGL, PAX3, PCDH15, PDZD7, PJVK, PNPT1, POU3F4, PPIP5K2, PRPS1, PTPRQ, RDX, RIPOR2, ROR1, S1PR2, SERPINB6, SLC22A4, SLC26A4, SLC26A5, SLITRK6, SMPX, SNAI2, SPNS2, STRC, SYNE4, TBC1D24, TECTA, TMC1, TMEM132E, TMIE, TMPRSS3, TPRN, TRIOBP, TSPEAR, TWNK, USH1C, WBP2, WHRN

Genes: ABHD12, ADGRV1, AIFM1, ATP6V1B1, BSND, CACNA1D, CDH23, CLPP, CLRN1, DIAPH3, EDN3, EDNRB, ERAL1, EYA1, FOXI1, GPSM2, HARS, HSD17B4, KCNE1, KCNJ10, KCNQ1, LARS2, MITF, MYH9, MYO7A, PAX3, PCDH15, PDZD7, SIX5, SLC26A4, SLITRK6, SNAI2, SOX10, TWNK, USH1C, USH1G, USH2A, WFS1, WHRN

Genes: GJB2, GJB6

Genes: ABHD12, ACTG1, ADCY1, ADGRV1, AIFM1, ATP6V1B1, BDP1, BSND, CABP2, CACNA1D, CCDC50, CD164, CDC14A, CDH23, CEACAM16, CEP250, CIB2, CLDN14, CLDN9, CLIC5, CLPP, CLRN1, COCH, COL11A1, COL11A2, COL4A6, CRYM, DCDC2, DIABLO, DIAPH1, DIAPH3, DMXL2, EDN3, EDNRB, ELMOD3, EPS8, EPS8L2, ERAL1, ESPN, ESRP1, ESRRB, EYA1, EYA4, FAM189A2, FOXI1, GAB1, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRAP, GRHL2, GRXCR1, GRXCR2, GSDME, HARS, HARS2, HGF, HOMER2, HSD17B4, ILDR1, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, KITLG, LARS2, LHFPL5, LMX1A, LOXHD1, LRTOMT, MARVELD2, MCM2, MET, MIR182, MIR183, MIR96, MITF, MPZL2, MSRB3, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NARS2, NLRP3, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PDE1C, PDZD7, PJVK, PLS1, PNPT1, POU3F4, POU4F3, PPIP5K2, PRPS1, PTPRQ, RDX, REST, RIPOR2, ROR1, S1PR2, SERPINB6, SIX1, SIX5, SLC17A8, SLC22A4, SLC26A4, SLC26A5, SLITRK6, SMPX, SNAI2, SOX10, SPNS2, STRC, SYNE4, TBC1D24, TECTA, TJP2, TMC1, TMEM132E, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TSPEAR, TWNK, USH1C, USH1G, USH2A, WBP2, WFS1, WHRN

Genes: microarray CGH (aCGH)

Genes: ABCC9, ACADVL, ACTC1, ACTN2, ALMS1, ANKRD1, BAG3, CAV3, CHRM2, CPT2, CRYAB, CSRP3, CTF1, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, EMD, EYA4, FHL2, FLNC, FKRP, FKTN, GATA4, GATA6, GATAD1, ILK, JUP, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYPN, NEBL, NEXN, NKX2-5, NPPA, PKP2, PLN, PDLIM5, RAF1, RBM20, RYR2, SCN5A, SDHA, SGCD, SLC22A5, TAZ, TCAP, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, TXNRD2, VCL,

Genes: trisomy 21

Genes: GABRD, GABRG2, PCDH19, SCN1A, SCN1B, SCN2A, SCN9A

Genes: ADAMTSL4, FBN1, LTBP2

Genes: trisomy 18

Genes: ADAMTS2, AEBP1, B3GALT6, B4GALT7, C1R, C1S, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, DSE, EMILIN1, FKBP14, FLNA, PHYKPL, PIEZO2, PLOD1, PLOD3, PRDM5, SLC2A10, SLC39A13, TNXB, ZNF469

Genes: COL1A1, COL1A2, COL3A1, COL5A1, COL5A2

Genes: ADAMTS2, AEBP1, B3GALT6, B4GALT7, CHST14, COL1A2, DSE, FKBP14, PLOD1, SLC39A13, TNXB

Genes: COL1A1, COL5A1, COL5A2

Genes: C1R, C1S, COL12A1, COL6A1, COL6A2, COL6A3, EMILIN1, FLNA, PHYKPL, PIEZO2, PLOD3, PRDM5, SLC2A10, ZNF469

Genes: B3GALT6, B4GALT7, SLC39A13

Genes: AIP, CDC73, CDKN1B, MAX, MEN1, PTEN, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL

Genes: AARS, ACTL6B, ADAM22, ADGRV1, ADRA2B, ALDH7A1, ALG13, AP3B2, ARHGEF15, ARHGEF9, ARV1, ARX, ATP1A2, BRAT1, CACNA1A, CACNA1E, CACNA1H, CACNB4, CAD, CASR, CDKL5, CERS1, CHD2, CHRNA2, CHRNA4, CHRNB2, CLCN2, CLCN4, CNPY3, CNTN2, CPA6, CPLX1, CSTB, CYFIP2, DCX, DENND5A, DEPDC5, DNM1, DOCK7, DYRK1A, EEF1A2, EFHC1, EPM2A, FGF12, FOXG1, FRRS1L, GABBR2, GABRA1, GABRA2, GABRA5, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GAL, GLS, GLUL, GNAO1, GOSR2, GPHN, GRIN2A, GRIN2B, GRIN2D, GUF1, HCN1, HDAC4, HNRNPU, IQSEC2, ITPA, KCNA1, KCNA2, KCNB1, KCNC1, KCNH5, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCNT2, KCTD7, LGI1, LMNB2, MBD5, MDH2, MECP2, MEF2C, NECAP1, NEUROD2, NHLRC1, NPRL2, NPRL3, NTRK2, PARS2, PCDH19, PHACTR1, PIGA, PIGB, PIGP, PIGQ, PLCB1, PLPBP, PNKP, PNPO, POLG, PPP3CA, PRDM8, PRICKLE1, PRICKLE2, PRRT2, RANBP2, RANGAP1, RELN, RHOBTB2, RNF13, ROGDI, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SIK1, SLC12A5, SLC13A5, SLC1A2, SLC25A12, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SPTAN1, SRPX2, ST3GAL3, STX1B, STXBP1, SYNGAP1, SYNJ1, SZT2, TBC1D24, UBA5, WWOX, YWHAG

Genes: CACNA1H, CLCN2, EFHC1, GABRA1, GABRA5, GABRB3, GABRG2, SLC2A1, SLC6A1

Genes: CHRNA2, KCNQ2, KCNQ3, PRRT2, SCN2A, SCN8A

Genes: AARS, ACTL6B, ADAM22, ALG13, AP3B2, ARHGEF9, ARV1, ARX, CACNA1A, CACNA1E, CAD, CDKL5, CHD2, CNPY3, CPLX1, CYFIP2, DCX, DENND5A, DNM1, DOCK7, EEF1A2, FGF12, FOXG1, FRRS1L, GABBR2, GABRA1, GABRA2, GABRA5, GABRB1, GABRB2, GABRB3, GABRG2, GLS, GNAO1, GPHN, GRIN2B, GRIN2D, GUF1, HCN1, HNRNPU, ITPA, KCNA2, KCNB1, KCNQ2, KCNT1, KCNT2, MDH2, MECP2, NECAP1, NEUROD2, NTRK2, PARS2, PCDH19, PHACTR1, PIGA, PIGB, PIGP, PIGQ, PLCB1, PNKP, POLG, PPP3CA, RANGAP1, RHOBTB2, RNF13, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SLC12A5, SLC13A5, SLC1A2, SLC25A12, SLC25A22, SLC35A2, SPTAN1, ST3GAL3, STXBP1, SYNGAP1, SYNJ1, SZT2, TBC1D24, UBA5, WWOX, YWHAG

Genes: CHRNA2, CHRNA4, CHRNB2, CPA6, DEPDC5, GAL, GRIN2A, KCNA1, KCNT1, LGI1, NPRL2, NPRL3, RELN, SCN3A

Genes: ADRA2B, CACNB4, CASR, CERS1, CLCN2, CNTN2, CSTB, EFHC1, EPM2A, GABRA1, GABRD, GOSR2, KCNC1, KCNMA1, KCTD7, LMNB2, NHLRC1, PRDM8, PRICKLE1, PRICKLE2, SCARB2, SLC6A1, TBC1D24

Genes: ADGRV1, CPA6, GABRD, GABRG2, HCN1, PCDH19, PRRT2, SCN1A, SCN1B, SCN2A, SCN9A, STX1B

Genes: ALDH7A1, KCNQ2, PLPBP, PNPO, PRRT2, SCN1A, SLC2A1

Genes: F13A1

Genes: BRCA1, BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, MAD2L2, PALB2, RAD51, RAD51C, RFWD3, SLX4, UBE2T, XRCC2

Genes: ACADM, ACADVL, ETFA, ETFB, ETFDH, HADHA, HADHB

Genes: FMR1

Genes: GALT

Genes: ATM, BMPR1A, BRCA1, BRCA2, CDH1, EGFR, ERBB2, MET, MLH1, MSH2, MSH6, NTRK1, NTRK2, NTRK3, PIK3CA, PMS2, RET, ROS1, SMAD4

Genes: APC, ARID1A, ARID1B, ATR, BRAF, CBL, CTNNB1, FGFR1, HRAS, KIT, KRAS, MEN1, NF1, NRAS, PDGFRA, PIK3CA, SDHA, SDHB, SDHC, SDHD, ZNF217

Genes: APC, BMPR1A, CDH1, CTNNA1, EPCAM*, KIT, MLH1, MSH2, MSH6, MUTYH, PDGFRA, PMS2, PTEN, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, STK11

Genes: ADAMTSL2, FBN1, LTBP3

Genes: SLC12A3

Genes: ATRX, BRAF, CDKN2A, CDKN2B, EGFR, H3F3A, HIST1H3B, HIST1H3C, IDH1, IDH2, MET, MGMT, PDGFRA, PTEN, TERT, TP53

Genes: GPAA1, PGAP1, PGAP2, PGAP3, PIGA, PIGB, PIGC, PIGG, PIGH, PIGL, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGU, PIGV, PIGW, PIGY

Genes: BMP6, HAMP, HFE, HJV, SLC40A1, TFR2

Genes: F8

Genes: F9

Genes: COL4A1, COL4A2

Genes: ACVR2B, CFAP53, CRELD1, DNAH11, DNAH5, DNAI1, GDF1, LEFTY2, MMP21, NODAL, NPHP4, PKD1L1, ZIC3

Genes: CRELD1, DNAI1, DNAH5, DNAH11, GDF1

Genes: HTT

Genes: AICDA, CD40, CD40LG, UNG

Genes: APOB, LDLR, LDLRAP1, PCSK9

Genes: ARHGEF9, ATAD1, GLRA1, GLRB, SLC6A5

Genes: MTHFR

Genes: AGXT, GRHPR, HOGA1

Genes: APOA5, APOC2, GPIHBP1, LMF1, LPL

Genes: ABCC9, ACADVL, ACTC1, ACTN2, AGL, ALMS1, ANKRD1, BAG3, BRAF, CACNA1C, CAV3, CALR3, CBL, CHRM2, CPT2, CSRP3, CTF1, DES, ELAC2, FHL1, FHL2, FLNC, GAA, GATA4, GLA, HRAS, JPH2, KRAS, LAMP2, LDB3, MAP2K1, MAP2K2, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOZ2, MYPN, NEXN, NF1, PLN, PDLIM5, PRKAG2, PTPN11, RAF1, RASA1, SHOC2, SOS1, SPRED1, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTR, VCL

Genes: ANGPTL3, APOB, MTTP, PCSK9

Genes: COL2A1

Genes: FGFR3

Genes: ANOS1, CHD7, FGF8, FGFR1, FSHB, GNRH1, GNRHR, KISS1, KISS1R, LHB, PROKR2, SEMA3A, SOX10, TAC3, TACR3

Genes: CACNA1S, KCNJ2, SCN4A

Genes: ABCD1, ACSL4, AFF2, AGTR2, AIFM1, ALG13, AMER1, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, ARHGEF6, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX, BCAP31, BCOR, BRWD3, CA8, CASK, CC2D1A, CCDC22, CDH15, CDKL5, CLCN4, CLIC2, CNKSR2, CNTNAP2, CRBN, CREBBP, CUL4B, DCX, DDX3X, DKC1, DLG3, DMD, EBP, EIF2S3, EP300, ERLIN2, FAAH2, FANCB, FGD1, FLNA, FMR1, FOXG1, FOXP1, FRMPD4, FTSJ1, GDI1, GJB1, GK, GPC3, GPKOW, GRIA3, GRIK2, GRIN2B, GSPT2, HCCS, HCFC1, HDAC6, HDAC8, HMGB3, HNRNPH2, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IKBKG, IL1RAPL1, IQSEC2, KDM5C, KDM6A, KIAA2022, KIF4A, KIRREL3, KLF8, KLHL15, L1CAM, LAMP2, LAS1L, MAGT1, MAN1B1, MAOA, MBTPS2, MECP2, MED12, MEF2C, MID1, MID2, MSL3, MTM1, NAA10, NDP, NDUFA1, NEXMIF, NHS, NLGN3, NLGN4X, NONO, NRXN1, NSDHL, NXF5, OCRL, OFD1, OGT, OPHN1, OTC, PAK3, PCDH19, PDHA1, PGK1, PHF6, PHF8, PIGA, PLP1, PORCN, PQBP1, PRPS1, PRSS12, PTCHD1, RAB39B, RAB40AL, RAI1, RBM10, RBMX, RLIM, RNF113A, RPL10, RPS6KA3, SHROOM4, SLC16A2, SLC25A5, SLC6A8, SLC9A6, SMC1A, SMS, SOBP, SOX3, SRPX2, SSR4, ST3GAL3, STAG2, STXBP1, SYN1, SYNGAP1, SYP, TAF1, TCF4, THOC2, TIMM8A, TMLHE, TRAPPC9, TSPAN7, TUSC3, UBE2A, UBE3A, UPF3B, USP27X, USP9X, VLDLR, WDR13, WDR45, ZC3H14, ZC4H2, ZCCHC12, ZDHHC15, ZDHHC9, ZEB2, ZMYM3, ZNF41, ZNF526, ZNF674, ZNF711, ZNF81

Genes: ABCA3, CSF2RA, CSF2RB, FLNA, FOXF1, NKX2-1, SFTPB, SFTPC

Genes: ACTC1, BMPR2, CITED2, DTNA, ELN, FOXH1, FOXP1, GATA4, GATA5, GATA6, GJA1, MED13L, MYH6, NKX2-5, NKX2-6, NR2F2, SMAD6, TAB2, TBX1, TBX20, TLL1, ZFPM2

Genes: IVD

Genes: AHI1, CC2D2A, CEP290, NPHP1, RPGRIP1L, TMEM216, TMEM67

Genes: AHI1, ARL13B, ATXN10, B9D1, CC2D2A, CEP104, CEP290, CEP41, CPLANE1, CSPP1, HYLS1, INPP5E, KIAA0556, KIAA0586, KIF7, MKS1, NPHP1, OFD1, PDE6D, POC1B, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423

Genes: BMP4, CDC5L, DSTYK, FGF20, HNF1B, ITGA8, PAX2, RET, SALL1, SIX2, TRAP1, UPK3A

Genes: ANOS1, BMP4, CDC5L, DSTYK, FGF20, FRAS1, FREM1, FREM2, GREM1, HNF1B, ITGA8, PAX2, RET, SALL1, SIX2, TRAP1, UPK3A, WNT4

Genes: BAP1, FH, FLCN, MET, PTEN, SDHA, SDHAF2, SDHB, SDHC, SDHD, VHL

Genes: COL2A1

Genes: GALC

Genes: LCT

Genes: ACTC1, CASQ2, HCN4, LDB3, MYBPC3, MYH7, PRDM16, TAZ, TNNT2, TPM1

Genes: SPRED1

Genes: BRAF, PTPN11, RAF1

Genes: Fusion Genes: FGFR2-CCDC6, FGFR2-TACC3

Genes: SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2

Genes: CACNA1C, CALM1, CALM2, CALM3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, SCN5A, TRDN

Genes: ACTA2, ACTG2, BMP4, CHD1L, CHRM3, DSTYK, GATA3, HNF1B, PAX2, ROBO2

Genes: Fusion Genes: CCDC6-RET, CD74-NRG1, CD74-NTRK1, CD74-ROS1, CRTC1-MAML2, CUX1-RET, EML4-ALK, EZR-ROS1, FGFR3-TACC3, GOPC-ROS1, KIF5B-ALK, KIF5B-RET, KLC1-ALK, LRIG3-ROS1, MPRIP-NTRK1, NCOA4-RET, SDC4-ROS1, SLC34A2-ROS1, SND1-BRAF, STRN-ALK, TFG-ALK, TPM3-ROS1, TRIM33-RET

Genes: ABCC9, AKT3, AMER1, ASPA, BRWD3, CCDC22, CCND2, CDKN1C, CHD8, CUL4B, DIS3L2, DNMT3A, DVL1, DVL3, EZH2, FOXP1, GCDH, GFAP, GLI3, GPC3, GRIA3, HEPACAM, HERC1, HRAS, HUWE1, KIF7, KPTN, KRAS, LZTR1, MED12, MLC1, MTOR, NDUFA1, NFIB, NFIX, NONO, NRAS, NSD1, NXN, OFD1, PIGA, PIGN, PIGT, PIGV, PIK3R2, PPP1CB, PPP2R5D, PTCH1, PTCH2, PTEN, RAB39B, RAF1, RHEB, RIT1, RNF135, ROR2, SETD2, SHOC2, SOS1, SUFU, TBC1D7, TMCO1, UPF3B, WASHC5, WNT5A, ZDHHC9

Genes: CACNA1S, RYR1

Genes: BCKDHA, BCKDHB, DBT

Genes: FBN1, TGFBR1, TGFBR2

Genes: ADAMTS10, ADAMTS17, ADAMTSL2, ADAMTSL4, FBN1, FBN2, LTBP2, LTBP3, MED12, SKI, UPF3B, ZDHHC9

Genes: COL11A1

Genes: ABCC8, APPL1, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1

Genes: B9D1, B9D2, CC2D2A, CEP290, MKS1, RPGRIP1L, TCTN2, TMEM138, TMEM216, TMEM67

Genes: B9D1, B9D2, CC2D2A, CEP290, CEP41, CPLANE1, CSPP1, KIF14, MKS1, NPHP3, RPGRIP1L, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B

Genes: BAP1, BRAF, BRCA2, CDK4, CDKN2A, GNA11, GNAQ, GNAS, HRAS, KIT, MAP2K1, MITF, NF1, NRAS, NTRK1, NTRK2, NTRK3, PTEN, TERT

Genes: ACADVL, AGK, ALDOA, CPT2, DGUOK, ETFA, ETFB, ETFDH, FBXL4, GAA, HADHA, HADHB, INIP, ISCU, LAMA2, LDHA, LPIN1, MGME1, MPV17, PFKM, PGAM2, PHKA1, PHKB, POLG, PYGM, RRM2B, SLC25A20, SLC25A4, SUCLA2, SUCLG1, TK2, TWNK, TYMP

Genes: ACADVL, AGK, DGUOK, ETFA, ETFB, ETFDH, HADHA, HADHB, INIP, POLG, RRM2B, SUCLA2, SUCLG1, TK2, TWNK, TYMP

Genes: ALDOA, CPT2, GAA, LDHA, PFKM, PGAM2, PHKA1, PHKB, PYGM, SLC25A20

Genes: MVK

Genes: ANKLE2, ASPM, CDK5RAP2, CDK6, CENPE, CENPF, CENPJ, CEP135, CEP152, CIT, COPB2, DONSON, KDM6A, KIF14, KMT2D, KNL1, MCPH1, MFSD2A, NCAPD2, NCAPD3, NCAPH, NUP37, PCNT, PHC1, SASS6, STIL, WDFY3, WDR62, ZEB1, ZNF335

Genes: 1p36

Genes: ATP1A2, CACNA1A, SCN1A

Genes: ARSB, GALNS, GLB1, GUSB, HGSNAT, HYAL1, IDS, IDUA, NAGLU, SGSH

Genes: FGFR3

Genes: B3GALNT2, B4GAT1, CHKB, COL6A1, COL6A2, COL6A3, CRPPA, DAG1, FHL1, FKRP, FKTN, GMPPB, ITGA7, LAMA2, LARGE1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RXYLT1, SELENON

Genes: CHKB, COL6A1, COL6A2, COL6A3, CRPPA, DNM2, FHL1, FKRP, FKTN, ITGA7, LAMA2, LARGE1, LMNA, POMGNT1, POMGNT2, POMT1, POMT2, SELENON, TCAP

Genes: ANO5, CAPN3, CAV3, DYSF, FKRP, FKTN, LMNA, MYOT, SGCA, SGCB, SGCD, SGCG, TCAP, TRIM32

Genes: ANO5, BVES, CAPN3, CAV3, CRPPA, DAG1, DES, DMD, DNAJB6, DYSF, EMD, FHL1, FKRP, FKTN, GAA, GMPPB, HNRNPDL, LAMA2, LIMS2, LMNA, MYOT, PLEC, POMGNT1, POMK, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, SYNE1, SYNE2, TCAP, TMEM43, TNPO3, TRAPPC11, TRIM32, TTN

Genes: ACTA1, MYH7, RYR1, TPM3

Genes: ACTA1, BIN1, CCDC78, CFL2, CNTN1, DNM2, GNE, KBTBD13, KLHL40, KLHL41, LMOD3, MEGF10, MTM1, MTMR14, MYF6, MYH2, MYH7, MYL1, MYO18B, MYPN, NEB, ORAI1, RYR1, SELENON, SPEG, SPTBN4, STAC3, STIM1, TNNT1, TPM2, TPM3, TTN, VCP

Genes: ACTA1, BIN1, DNM2, MTM1, RYR1, SELENON, TPM2, TPM3, TTN

Genes: BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, KY, LDB3, MYOT, PLEC, PYROXD1, TTN

Genes: ACTA1, CFL2, KBTBD13, KLHL40, KLHL41, LMOD3, MYPN, NEB, TNNT1, TPM2, TPM3

Genes: CACNA1S, CLCN1, HSPG2, KCNJ2, SCN4A

Genes: CEP290, GLIS2, INVS, IQCB1, NPHP1, NPHP3, NPHP4

Genes: AHI1, ANKS6, CC2D2A, CEP164, CEP290, CEP83, DCDC2, GLIS2, IFT172, INVS, IQCB1, MAPKBP1, NEK8, NPHP1, NPHP3, NPHP4, PAX2, RPGRIP1L, SDCCAG8, SLC41A1, TMEM216, TMEM237, TMEM67, TTC21B, WDR19, XPNPEP3, ZNF423

Genes: ACTN4, CD2AP, INF2, NPHS1, NPHS2, PLCE1, TRPC6, WT1

Genes: ACTN4, ANLN, APOL1, ARHGAP24, ARHGDIA, CD2AP, CFH, COL4A3, COL4A4, COL4A5, COQ2, COQ6, COQ8B, CRB2, CUBN, DGKE, EMP2, GLA, INF2, ITGA3, ITGB4, KANK1, KANK2, KANK4, LAMB2, LMX1B, MYH9, MYO1E, NEIL1, NPHS1, NPHS2, PAX2, PDSS2, PLCE1, PTPRO, SCARB2, SMARCAL1, TRPC6, WT1

Genes: AIP, NF1, NF2, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMARCA4, SMARCB1, LZTR1, SMARCE1, TP53, VHL

Genes: AARS, ABHD12, AIFM1, ARHGEF10, ATL1, ATL3, ATP1A1, ATP7A, BAG3, BICD2, BSCL2, CCT5, COX6A1, CTDP1, DCTN1, DGAT2, DHTKD1, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, ELP1, FBLN5, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HARS, HINT1, HK1, HOXD10, HSPB1, HSPB3, HSPB8, IGHMBP2, INF2, KARS, KIF1A, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MARS, MCM3AP, MED25, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, MYH14, NDRG1, NEFH, NEFL, NGF, NTRK1, OPA1, PDK3, PLEKHG5, PMP22, POLG, PRDM12, PRPS1, PRX, RAB7A, REEP1, RETREG1, SACS, SBF1, SBF2, SCN10A, SCN11A, SCN9A, SEPT9, SH3TC2, SIGMAR1, SLC12A6, SLC25A46, SLC5A7, SOX10, SPG11, SPTLC1, SPTLC2, SURF1, SYT2, TDP1, TFG, TRIM2, TRPV4, TTR, VCP, WNK1, YARS

Genes: ACADM, ACADVL, BCKDHA, BCKDHB, BTD, CFTR, CPT1A, CPT2, CYP21A2, DBT, DUOX2, FAH, GALT, GCDH, HADHA, HADHB, IVD, PAH, PAX8, SLC25A20, TSHR

Genes: NPC1, NPC2, SMPD1

Genes: BRAF, CBL, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NF1, NRAS, PPP1CB, PTPN11, RAF1, RASA2, RIT1, RRAS, RRAS2, SHOC2, SOS1, SOS2

Genes: KSR2, LEP, LEPR, MC3R, MC4R, MRAP2, NTRK2, PCSK1, POMC, SH2B1, SIM1

Genes: C2CD3, CPLANE1, DDX59, OFD1, TCTN3, TMEM107, TMEM138, TMEM216, TMEM231

Genes: C2CD3, CPLANE1, DDX59, IFT57, INTU, KIAA0753, NEK1, OFD1, SCLT1, TBC1D32, TCTN3, TMEM107, TMEM138, TMEM216, TMEM231, WDPCP

Genes: BMP1, COL1A1, COL1A2, CRTAP, FKBP10, IFITM5, P3H1, PLOD2, PPIB, SERPINF1, SERPINH1, SP7, TMEM38B, WNT1

Genes: COL1A1, COL1A2, IFITM5, WNT1

Genes: BMP1, CRTAP, FKBP10, P3H1, PLOD2, PPIB, SERPINF1, SERPINH1, SP7, TMEM38B, WNT1

Genes: ATM, BARD1, BRCA1, BRCA2, BRIP1, CDK12, CHEK2, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, RAD51B, RAD51C, RAD51D, STK11

Genes: BMP15, FSHR, MCM9, NR5A1, PSMC3IP

Genes: CDKN1C, DIS3L2, DNMT3A, EED, EZH2, GPC3, HERC1, HIST1H1E, NFIX, NSD1, OFD1

Genes: ALK, APC, ATM, BRAF, BRCA1, BRCA2, CDKN2A, ERBB2, FANCC, FANCG, GNAS, KRAS, MDM2, MLH1, MSH2, MSH6, NTRK1, NTRK2, NTRK3, PALB2, PIK3CA, PMS2, RET, ROS1, SMAD4, STK11, TP53; Fusion Genes: EWSR1-FLI1, GATM-BRAF, HACL1-RAF1, HERPUD1-BRAF, SND1-BRAF, ZSCAN30-BRAF

Genes: ATM, BRCA1, BRCA2, CDKN1B, CDKN2A, EPCAM*, MLH1, MEN1, MSH2, MSH6, PALB2, PMS2, STK11, TP53, VHL

Genes: CASR, CFTR, CPA1, CTRC, PRSS1, SPINK1

Genes: trisomy 13

Genes: DBH, DDC, DNAJC12, GCH1, MAOA, PCBD1, PTS, QDPR, SLC18A2, SLC6A3, SPR, TH, TPH1, TPH2

Genes: SLC26A4

Genes: ELANE, IL1RN, IL36RN, LPIN2, MEFV, MVK, NLRC4, NLRP12, NLRP3, NOD2, PSMB8, PSTPIP1, TMEM173, TNFRSF1A

Genes: CLPP, ERAL1, HARS2, HSD17B4, LARS2, TWNK

Genes: FGFR1, FGFR2

Genes: PAH

Genes: DNAJB11, GANAB, HNF1B, PKD1, PKD2

Genes: ALAD, ALAS2, CPOX, FECH, HMBS, PPOX, UROD, UROS

Genes: BMP15, DIAPH2, ESR1, FIGLA, FOXL2, FSHR, GDF9, INHA, LHCGR, NOBOX, NR5A1, SOHLH1, SOHLH2, STAG3

Genes: BRCA1, BRCA2

Genes: ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, SMARCA4, STK11, TP53

Genes: ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, TP53, STK11

Genes: BRCA1, BRCA2, CDH1, PALB2, PTEN, STK11, TP53

Genes: APC, BMPR1A, CDH1, CHEK2, EPCAM, GREM1, MLH1, MSH2, MSH6, MUTYH, PMS2, POLD1, POLE, PTEN, SMAD4, STK11, TP53

Genes: APC, BMPR1A, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, SMAD4, STK11

Genes: EPCAM, MLH1, MSH2, MSH6, PMS2

Genes: APC, BMPR1A, MUTYH, POLD1, POLE, SMAD4,STK11

Genes: BAP1, BRCA2, CDK4, CDKN2A (CDKN2Ap16(INK4A), CDKN2Ap14(ARF)), PTEN, RB1, TP53

Genes: APC, BMPR1A, CDH1, EPCAM, MLH1, MSH2, MSH6, PMS2, SDHB, SDHC, SDHD, SMAD4, STK11, TP53

Genes: ATM, BRCA1, BRCA2, BRIP1, EPCAM, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, MLH1, MSH2, MSH6, PALB2, PMS2, RAD51C, SLX4, TP53

Genes: APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, (CDKN2Ap16(INK4A), CDKN2Ap14(ARF)), CHEK2, DDB2, DICER1, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, GREM1, HOXB13, MEN1, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, POLH, PTEN, RAD50, RAD51C, RAD51D, RB1, RET, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCA4, STK11, TP53, VHL, XPA, XPC

Genes: APC, ATM, BRCA1, BRCA2, BMPR1A, CDK4, CDKN2A, (CDKN2Ap16(INK4A), CDKN2Ap14(ARF)), EPCAM, MEN1, MLH1, MSH2, MSH6, PALB2, PMS2, SMAD4, STK11, TP53

Genes: RET, SDHAF2, SDHB, SDHC, SDHD, VHL

Genes: ATM, BRCA1, BRCA2, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, PTEN, RAD51D, TP53

Genes: BAP1, EPCAM, MLH1, MSH2, MSH6, PMS2, PTEN, SDHAF2, SDHB, SDHC, SDHD, TP53, VHL

Genes: DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC

Genes: CCDC103, CCDC39, DNAH5, DNAI1, RSPH1, SPAG1, ZMYND10

Genes: ARMC4, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CENPF, CFAP298, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, GAS8, LRRC6, MCIDAS, NME8, PIH1D3, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, TTC25, ZMYND10

Genes: PCCA, PCCB

Genes: ATM, BRCA1, BRCA2, CHEK2, EPCAM*, HOXB13, MLH1, MSH2, MSH6, PALB2, PMS2

Genes: AKT1, AR, ATM, ATR, BARD1, BRCA1, BRCA2, BRIP1, CDK12, CHEK1, CHEK2, FANCA, FANCL, FOXA1, IDH1, MYC, NCOR1, PALB2, PIK3CA, PTEN, RAD51B, RAD51C, RAD51D, RB1, SMAD4, SPOP, TP53; Fusion Genes: ESRP1-RAF1, RAF1-ESRP1, SLC45A3-BRAF, SND1-BRAF, TMPRSS2-ERG, UBE2L3-KRAS

Genes: PROC

Genes: PROS1

Genes: ACVRL1, BMPR1B, BMPR2, CAV1, EIF2AK4, ENG, GDF2, KCNA5, KCNK3, SMAD1, SMAD4, SMAD9, TBX4

Genes: BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NF1, NRAS, PPP1CB, PTPN11, RAF1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1

Genes: BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NF1, NRAS, PPP1CB, PTPN11, RAF1, RASA2, RIT1, RRAS, RRAS2, SHOC2, SOS1, SPRED1

Genes: BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NRAS, PPP1CB, PTPN11, RAF1, RIT1, SHOC2, SOS1, SOS2

Genes: ACE, AGT, AGTR1, REN

Genes: DES, FLNC, MYBPC3, MYH7, TNNI3, TNNT2

Genes: ABCA4, C8orf37, CA4, CDHR1, CERKL, CRB1, DHDDS, EYS, FAM161A, FSCN2, IDH3B, IFT172, IMPDH1, IMPG2, KIZ, KLHL7, MAK, MERTK, NEK2, NR2E3, NRL, OFD1, PCARE, PDE6A, PDE6B, PDE6G, PRCD, PROM1, PRPF3, PRPF4, PRPF6, PRPF8, RBP3, RHO, ROM1, RP1, RP9, RPE65, RPGR, SAG, SEMA4A, SLC7A14, SNRNP200, TOPORS, TULP1, USH2A, ZNF408, ZNF513

Genes: CDKL5, FOXG1, MECP2

Genes: RHD

Genes: TWIST1

Genes: Sarcoma Fusion Gene Panel: NTRK3-ETV6, EWSR1-NR4A3, EWSR1-PBX1, EWSR1-ZNF384, EWSR1-ATF1, EWSR1-PATZ1, EWSR1-DDIT3, EWSR1-SP3, EWSR1-FEV, EWSR1-CREB1, EWSR1-FLI1, EWSR1-ETV4, EWSR1-ETV1, EWSR1-ERG, YY1-EWSR1, EWSR1-ZNF444, EWSR1-SMARCA5, NFATC2-EWSR1, SS18-SSX1, SS18-SSX4, FUS-CREB3L2, FUS-CREB3L1, FUS-DDIT3, FUS-ERG, FUS-ATF1, FUS-FEV; Salivary Gland Sarcoma Fusion Gene Panel: CRTC1-MAML2, ETV6-NTRK3, FGFR1-PLAG1; Soft Tissue Sarcoma Fusion Gene Panel: ASPSCR1-TFE3, ATIC-ALK, CARS-ALK, CLTC-ALK, COL1A1-PDGFB, DCTN1-ALK, ETV6-NTRK3, EWSR1-ATF1, EWSR1-CREB1, EWSR1-DDIT3, EWSR1-ERG, EWSR1-ETV1, EWSR1-ETV4, EWSR1-FEV, EWSR1-FLI1, EWSR1-WT1, FN1-ALK, FUS-DDIT3, NCOA4-RET, PAX3-FOXO1, PAX7-FOXO1, PPFIBP1-ALK, RANBP2-ALK, SEC31A-ALK, SS18-SSX1, SS18-SSX2, TPM3-ALK, TPM4-ALK

Genes: CEP290, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TRAF3IP1, WDR19

Genes: ADA, AK2, DCLRE1C, LIG4, NHEJ1, PRKDC, RAG1, RAG2

Genes: CD247, CD3D, CD3E, CORO1A, FOXN1, IL2RG, IL7R, JAK3, PTPRC

Genes: CACNA1C, CACNA2D1, CACNB2, KCNH2, KCNJ2, KCNQ1

Genes: DYNC2H1, IFT80, NEK1, TTC21B, WDR34

Genes: CEP120, CSPP1, DYNC2H1, DYNC2LI1, EVC, EVC2, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, KIAA0586, NEK1, TCTN3, TTC21B, WDR19, WDR34, WDR35, WDR60

Genes: HBB

Genes: ALAS2

Genes: BAP1, CDK4, CDKN2A, MITF, MLH1, MSH2, MSH6, NF1, PMS2, POT1, PTCH1, PTCH2, PTEN, SUFU

Genes: ANK1, EPB42, SLC4A1, SPTA1, SPTB

Genes: ASAH1, ATP7A, BICD2, BSCL2, CHCHD10, DNAJB2, DYNC1H1, EXOSC3, EXOSC8, FBXO38, GARS, HSPB8, IGHMBP2, PLEKHG5, REEP1, SLC5A7, TFG, TRIP4, TRPV4, UBA1, VAPB, VRK1

Genes: ATP7A, BICD2, BSCL2, CHCHD10, DNAJB2, FBXO38, GARS, HSPB8, REEP1, SLC5A7, TFG, TRPV4, VAPB

Genes: ASAH1, ATP7A, EXOSC3, EXOSC8, IGHMBP2, PLEKHG5, TRPV4, UBA1, VRK1

Genes: COL11A1, COL11A2, COL2A1, COL9A1, COL9A2

Genes: ADAMTS10, ARHGAP31, CHD7, CREBBP, DOCK6, EHMT1, EOGT, EP300, EVC, EVC2, FBN1, FBN2, FLNA, FOXC1, GPC3, JAG1, KDM6A, KMT2D, MED12, MGP, MYH11, NIPBL, NOTCH1, NOTCH2, NSD1, PITX2, RBM10, RBPJ, SALL1, SALL4, SEMA3E, TBX3, TBX5, TFAP2B, TGFBR1, TGFBR2, ZEB2

Genes: ABCA1

Genes: ACTA2, BGN, CBS, COL1A1, COL3A1, COL4A5, COL5A1, COL5A2, EFEMP2, ELN, EMILIN1, FBLN5, FBN1, FBN2, FLNA, FOXE3, GATA5, LOX, LTBP3, MAT2A, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, ROBO4, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, SMAD6, TGFB2, TGFB3, TGFBR1, TGFBR2

Genes: F2, F5

Genes: Lung Cancer Fusion Gene Panel: CCDC6-RET, CD74-NRG1, CD74-NTRK1, CD74-ROS1, CRTC1-MAML2, CUX1-RET, EML4-ALK, EZR-ROS1, FGFR3-TACC3, GOPC-ROS1, KIF5B-ALK, KIF5B-RET, KLC1-ALK, LRIG3-ROS1, MPRIP-NTRK1, NCOA4-RET, SDC4-ROS1, SLC34A2-ROS1, SND1-BRAF, STRN-ALK, TFG-ALK, TPM3-ROS1, TRIM33-RET; Non-Small Cell Lung Carcinoma Gene Panel: ALK, BRAF, BRCA1, BRCA2, EGFR, ERBB2, KRAS, MET, NTRK1, NTRK2, NTRK3, PIK3CA, RET, ROS1; Non-Small Cell Lung Carcinoma Fusion Gene Panel: BAG4-FGFR1, CCDC6-RET, CD74-NRG1, CD74-ROS1, EML4-ALK, EZR-ROS1, GOPC-ROS1, HIP1-ALK, KIF5B-ALK, KIF5B-RET, KLC1-ALK, LRIG3-ROS1, SDC4-ROS1, SLC34A2-ROS1, STRN-ALK, TFG-ALK, TPM3-ROS1, TPR-ALK, TRIM33-RET; Non-Small Cell Lung Carcinoma Targeted Panel: BRAF, EGFR, ERBB2, KRAS, MET, NTRK1/2/3 fusion

Genes: monosomy X

Genes: FAH

Genes: BAP1, CDKN1B, DICER1, NF1, PTEN, STK11, TP53

Genes: ARG1, ASL, ASS1, CPS1, NAGS, OTC, SLC25A13, SLC25A15

Genes: ACTA2, ACTG2, BMP4, CHD1L, CHRM3, DSTYK, GATA3, HNF1B, ITGA8, PAX2, ROBO2, SOX17

Genes: ACTA2, ACTG2, BMP4, BMP7, CHD1L, CHRM3, DACH1, DSTYK, EYA1, FRAS1, FREM1, FREM2, GATA3, HNF1B, HPSE2, ITGA8, LRIG2, PAX2, RET, ROBO2, SALL1, SOX17, TRAP1

Genes: ADGRV1, CDH23, CIB2, CLRN1, HARS, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A, WHRN

Genes: ABCC6, ACTA2, ACVR1, ADAMTS2, ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, B3GALT6, B4GALT7, BGN, C1R, C1S, CBS, CHST14, COL1A1, COL1A2, COL3A1, COL4A1, COL5A1, COL5A2, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FOXE3, GORAB, LOX, LTBP4, MFAP5, MYH11, MYLK, PLOD1, PRDM5, PYCR1, SKI, SLC2A10, SLC39A13, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2, ZNF469

Genes: ABCC9, AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, GJA5, GNAI2, GPD1L, HCN4, KCNA5, KCNAB2, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LMNA, MYL4, NPPA, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SNTA1, TBX5, TECRL, TNNI3, TRDN, TRPM4

Genes: AARS2, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AKAP9, ALMS1, ALPK3, ANKRD1, BAG3, CASQ2, CAV3, COA5, COA6, COX15, CPT2, CRYAB, CSRP3, CTNNA3, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, DTNA, ELAC2, EMD, FHL1, FKTN, FLNC, GAA, GATAD1, GBE1, GLA, GTPBP3, HADHA, HADHB, HCN4, HRAS, ILK, JPH2, JUP, KARS1, LAMA4, LAMP2, LDB3, LMNA, MIB1, MRPL3, MRPL44, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NDUFB11, NDUFV2, NEBL, NEXN, PDLIM3, PKP2, PLN, PPA2, PRDM16, PRKAG2, RAF1, RBM20, RYR2, SCN5A, SCO2, SGCD, SLC22A5, SLC25A20, SLC25A3, SLC25A4, TAFAZZIN, TCAP, TGFB3, TK2, TMEM43, TMEM70, TNNC1, TNNI3, TNNT2, TPM1, TSFM, TTN, TTR, VCL

Genes: AARS2, ABCA1, ABCC6, ABCC9, ABCG5, ABCG8, ACAD9, ACADVL, ACTA1, ACTA2, ACTC1, ACTN2, ACVR1, ACVR2B, ACVRL1, ADAMTS2, AFF4, AGK, AKAP9, AKT3, ALDH18A1, ALMS1, ALPK3, ANK2, ANKRD1, APOA5, APOB, APOE, ATP6V0A2, ATP6V1A, ATP6V1E1, B3GALT6, B4GALT7, BAG3, BGN, BMPR1B, BMPR2, BRAF, C1R, C1S, CACNA1C, CACNA2D1, CACNB2, CAD, CALM1, CALM2, CALM3, CASQ2, CAV1, CAV3, CBL, CBS, CFAP53, CCND2, CDK13, CELSR1, CELSR2, CELSR3, CHD4, CHD7, CHST14, CITED2, COA5, COA6, COL1A1, COL1A2, COL3A1, COL4A1, COL5A1, COL5A2, COX15, CPT2, CREBBP, CRELD1, CRYAB, CSRP3, CTNNA3, DES, DMD, DNAH11, DNAH5, DNAH6, DNAI1, DNAJC19, DOLK, DSC2, DSE, DSG2, DSP, DTNA, EFEMP2, EHMT1, EIF2AK4, ELAC2, ELN, EMD, ENG, EPHB4, EVC, EVC2, FBLN5, FBN1, FBN2, FHL1, FKBP14, FKTN, FLNA, FLNC, FOXC1, FOXE3, FOXH1, GAA, GANAB, GATA4, GATA5, GATA6, GATAD1, GBE1, GDF1, GJA5, GLA, GNAI2, GORAB, GPC3, GPD1L, GTPBP3, HADHA, HADHB, HAND1, HAND2, HCN4, HRAS, ILK, JAG1, JPH2, JUP, KARS1, KCNA5, KCNAB2, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK3, KCNQ1, KDM5B, KMT2D, KRAS, LAMA4, LAMP2, LDB3, LDLR, LDLRAP1, LIPA, LMNA, LOX, LPL, LTBP4, LZTR1, MAP2K1, MAP2K2, MED13L, MFAP5, MIB1, MMP21, MRAS, MRPL3, MRPL44, MTO1, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYL4, MYLK, MYLK2, MYOZ2, MYPN, NDUFB11, NDUFV2, NEBL, NEXN, NF1, NF2, NIPBL, NKX2-5, NKX2-6, NME7, NODAL, NOTCH1, NOTCH2, NPPA, NR2F2, NRAS, PCSK9, PDLIM3, PIK3CA, PIK3R2, PITX2, PKD1L1, PKP2, PLD1, PLN, PLOD1, POGZ, PPA2, PPP1CB, PRDM16, PRDM5, PRDM6, PRKAG2, PRKD1, PTPN11, PYCR1, RABGAP1L, RAF1, RASA1, RASA2, RBFOX2, RBM10, RBM20, RIT1, RRAS, RYR2, SALL4, SASH1, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SEMA3D, SEMA3E, SGCD, SHOC2, SKI, SLC22A5, SLC25A20, SLC25A3, SLC25A4, SLC2A10, SLC39A13, SMAD3, SMAD4, SMAD6, SMAD9, SMARCB1, SNTA1, SOS1, SOS2, SPRED1, STAMBP, TAB2, TAFAZZIN, TBX1, TBX20, TBX4, TBX5, TCAP, TECRL, TFAP2B, TGFB2, TGFB3, TGFBR1, TGFBR2, TK2, TLL1, TMEM260, TMEM43, TMEM70, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRPM4, TSFM, TTN, TTR, VCL, ZEB2, ZFPM2, ZIC3, ZNF469

Genes: ACTA2, ACTC1, ACVR2B, AFF4, BMPR2, CAD, CFAP53, CDK13, CELSR1, CELSR2, CELSR3, CHD4, CHD7, CITED2, CREBBP, CRELD1, DNAH11, DNAH5, DNAH6, DNAI1, DTNA, EHMT1, ELN, EVC, EVC2, FBN1, FLNA, FOXC1, FOXH1, GANAB, GATA4, GATA5, GATA6, GDF1, GPC3, HAND1, HAND2, HRAS, JAG1, KDM5B, KMT2D, MED13L, MMP21, MYH11, MYH6, MYH7, NIPBL, NKX2-5, NKX2-6, NME7, NODAL, NOTCH1, NOTCH2, NR2F2, PITX2, PKD1L1, PLD1, POGZ, PRDM6, PRKD1, RABGAP1L, RBFOX2, RBM10, SALL4, SEMA3D, SEMA3E, SMAD6, TAB2, TBX1, TBX20, TBX5, TFAP2B, TGFBR1, TGFBR2, TLL1, TMEM260, TPM1, ZEB2, ZFPM2, ZIC3

Genes: ABCA1, ABCG5, ABCG8, APOA5, APOB, APOE, LDLR, LDLRAP1, LIPA, LPL, PCSK9

Genes: ACVRL1, BMPR1B, BMPR2, CAV1, EIF2AK4, ENG, KCNA5, KCNK3, SMAD4, SMAD9, TBX4

Genes: AKT3, BRAF, CBL, CCND2, EPHB4, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NF1, NF2, NRAS, PIK3CA, PIK3R2, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SASH1, SHOC2, SMARCB1, SOS1, SOS2, SPRED1, STAMBP

Genes: ACOX1, AGA, AGL, ALDH3A2, ALDOB, ALMS1, ASNS, ASPA, BBS1, BBS12, BCKDHB, BCS1L, BTD, CFTR, CHM, CLN8, CLRN1, COL4A5, CTSK, CYP19A1, DCLRE1C, DHDDS, DLD, DNAH5, DNAI1, EIF2B5, ELP1, ETFA, EYS,F11, FANCC, FANCG,G6PC,GBA,GLDC,GNE,GNS,HADHA,HAX1, HBB, HEXA, HGSNAT, HMGCL, HOGA1, HYLS1, IDS, IL2RG, IVD, LAMC2, LCA5, LHCGR, LIFR, LIPA, LPL, LRPPRC, MCCC1, MCCC2, MFSD8, MMAA, MMACHC, MMADHC, MMUT, MPV17, MTM1, MTRR, MTTP, NBN, NPHS2, OAT, PAH, PCDH15, PDHB, PEX1, PEX2, PFKM, PKHD1, PMM2, RAB23, RAG2, RLBP1, SAMHD1, SEPSECS, SGCB, SLC12A6, SLC25A13, SLC25A15, SLC26A4, SLC35A3, SLC37A4, SLC7A7, SUMF1, TGM1, TMEM216, TPP1, TSFM, UGT1A1, VPS13A, VPS53, VRK1.

Genes: EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10

Genes: VCAN

Genes: ADAMTS10, ADAMTS17, FBN1, LTBP2

Genes: ATP7B

OUR NETWORK