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É importante lembrar que a GeneDx não fornece testes diretamente aos pacientes.
Todos os testes devem ser solicitados por um médico especializado e os resultados serão enviados para o médico que solicitou o exame.


Testes Genéticos para Desordens Neurológicas/Epilepsia

Teste

Genes

Painel Abrangente de Epilepsia (87 Genes)
 

ADSL, ALDH7A1, ALG13, ARHGEF9, ARX, ATP1A2, ATP6AP2, CACNA1A, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTSD, DNAJC5, DNM1, DYRK1A, EEF1A2, EPM2A, FOLR1, FOXG1, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GATM, GOSR2, GRIN1, GRIN2A, GRIN2B, IQSEC2, KANSL1, KCNB1, KCNJ10, KCNQ2, KCNQ3,KCNT1, KCTD7, LGI1, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NHLRC1, NR2F1, NRXN1, PCDH19, PIGA, PIGO, PIGV, PNKP, PNPO, POLG, PPT1, PRICKLE1, PRRT2, QARS, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SLC13A5, SLC25A22, SLC2A1, SLC6A8, SLC9A6, SPTAN1, STXBP1, SRPX2, STXBP1 , SYN1, TBC1D24, TCF4, TPP1, TSC1, TSC2, UBE3A, WDR45, WWOX, ZEB2

Painel de Epilepsia Infantil (75 Genes)

ADSL, ALDH7A1, ALG13, ARHGEF9, ARX, ATP1A2, ATP6AP2, CACNA1A, CDKL5, CHD2, CHRNA7, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CTSD, DNM1, DYRK1A, EEF1A2, FOLR1, FOXG1, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GATM, GOSR2, GRIN1, GRIN2A, GRIN2B, IQSEC2, KANSL1, KCNB1, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NR2F1, NRXN1, PCDH19, PIGA, PIGO, PIGV, PNKP, PNPO, POLG, PPT1, PRRT2, QARS,  SCN1A, SCN1B, SCN2A, SCN8A, SLC13A5, SLC25A22, SLC2A1, SLC6A8, SLC9A6, SPTAN1, STXBP1, TBC1D24, TCF4, TPP1, TSC1, TSC2, UBE3A, WDR45, WWOX, ZEB2

STAT Epilepsy Panel (22 Genes)




Painel de Epilepsia durante a Infância (58 Genes)

ALDH7A1, ARX, CDKL5, FOLR1, KCNQ2, KCNQ3, KCNT1, MECP2, MEF2C, PCDH19, PNPO, POLG, SCN1A, SCN1B, SCN2A, SCN8A, SLC2A1, SLC6A8, SPTAN1, STXBP1, TSC1, TSC2

ADSL, CACNA1A, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTSD, DYRK1A, EEF1A2, EFHC1, EPM2A, FOLR1, FOXG1, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GATM, GOSR2, GRIN1, GRIN2A, IQSEC2, KANSL1, KCNT1, KCTD7, LGI1, MAGI2,MBD5, MECP2, MEF2C, MFSD8, NHLRC1, NRXN1, PCDH19, PNKP, POLG, PPT1, PRICKLE1, SCN1A, SCN1B, SCN2A, SLC2A1, SLC6A8, SLC9A6, SYN1, TBC1D24, TCF4, TPP1, UBE3A, WDR45, ZEB2

Painel de Epilepsia Mioclonica Progressiva (17 Genes) 

CLN3, CLN5, CLN6, CLN8, CSTB, CTSD, DNAJC5, EPM2A, FOLR1, GOSR2, KCTD7, MFSD8, NHLRC1, PPT1, PRICKLE1, SCARB2, TPP1

Painel da Síndrome de Rett/Angelman (12 Genes)

CDKL5, CNTAP2, FOXG1, MBD5, MECP2, MEF2C, NRXN1, SLC9A6, TCF4, UBE3A, WDR45, ZEB2

Painel de Esclerose Tuberosal (2 Genes)

TSC1 and TSC2

Painel Abrangente de Malformações Cerebrais (93 Genes)

ACTB, ACTG1, ADGRG1, AHI1, AKT3, ARFGEF2, ARL13B, ARX, ASPM, ATP6V0A2, B3GALNT2, B3GNT1, B9D1, C5orf42, CASK, CC2D2A, CCND2, CEP290, CEP41, CHMP1A, CLP1, CSPP1, CUL4B, DCX, DYNC1H1, ERMARD, EXOSC3, FAT4, FKRP, FKTN, FLNA, GMPPB, GPSM2, IFT172, INPP5E, ISPD, KIAA1279 (KIF1BP), KIF2A, KIF5C, KIF7, LAMB1, LAMC3, LARGE, MKS1, NDE1, NPHP1, NPHP3, OCLN, OFD1 (CXORF5), OPHN1, PAFAH1B1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PQBP1, RAB18, RAB3GAP1, RAB3GAP2, RARS2, RELN, RPGRIP1L, RTTN, SEPSECS, SRD5A3, SRPX2, TBC1D20, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM5, TMEM67, TSEN2, TSEN34, TSEN54, TTC21B, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, VLDLR, VPS53, VRK1, WDRG2

Painel de Malformações do Córtex Cerebral (56 Genes)

ACTB, ACTG1, ADGRG1, AKT3, ARFGEF2, ARX, ASPM, ATP6V0A2, B3GALNT2, B3GNT1, CCND2, CUL4B, DCX, DYNC1H1, ERMARD, FAT4, FKRP, FKTN, FLNA, GMPPB, GPSM2, GPR56, ISPD, KIAA1279 (KIF1BP), KIF2A, KIF5C, LAMB1, LAMC3, LARGE, NDE1, OCLN, PAFAH1B1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PQBP1, RAB18, RAB3GAP1, RAB3GAP2, RELN, RTTN, SRD5A3, SRPX2, TBC1D20, TMEM5, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, VLDLR, WDR62

Painel de Hipoplasia Pontocerebelar  (18 Genes)

CASK, CHMP1A, CLP1, EXOSC3, OPHN1, RARS2, RELN, SEPSECS, TSEN2, TSEN34, TSEN54, TUBA1A, TUBA8, TUBB2B, TUBB3, VLDLR, VPS53, VRK1

Painel da Síndrome de Joubert Syndrome e Doenças Relacionadas (13 Genes)

AHI1, ARL13B, B9D1, C5orf42, CC2D2A, CEP290, CEP41, CSPP1, IFT172, INPP5E, KIF7, MKS1, NPHP1, NPHP3, OFD1 (CXORF5), RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B

Painel de Microcefalia (28 Genes)

ASPM, ATR, ATRX, CASK, CDK5RAP2, CDKL5, CENPJ, CEP152, DHCR7, FOXG1, IER3IP1, MCPH1, MECP2, MYCN, NIPBL, PCNT, RAB18, RAB3GAP1, RAB3GAP2, RBBP8, SLC25A19, SLC9A6, STIL, TCF4, TUBB3, UBE3A, WDR62, ZEB2

Painel de Macrocefalia Sindrômica/Síndromes de
Supercrescimento (11 Genes)

CUL4B, EZH2, GLI3, GPC3, MED12, NFIX, NSD1, PHF6, PTCH1, PTEN, UPF3B

Arranjo do Genoma Completo 



Lissencephaly Panel (24 Genes) Novo

Citogenética 



ACTB, ACTG1, ARX, ATP6V0A2, B3GALNT2, B3GNT1, DCX, FKRP, FKTN, GMPPB, ISPD, LAMB1, LARGE, NDE1, PAFAH1B1, POMGNT1, POMGNT2, POMT1, POMT2, RELN, TMEM5, TUBA1A, VLDLR, WDR62


 


 

Neuromuscular

Teste                                                                                                                                                 Genes

Painel de Neuropatia Hereditária

AARS, ATL1, ATP7A, BSCL2, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, FAM134B, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GLA, HSPB1, HSPB8, IGHMBP2, IKBKAP, KIF1A, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, NGF, NTRK1, PDK3, PLEKHG5, PMP22, PRPS1, PRX, RAB7A, REEP1, SBF2, SCN9A, SH3TC2, SLC12A6, SPTLC1, SPTLC2, TFG, TRPV4, TTR, WNK1, YARS

Neuropatia hereditária com Responsabilidade para Pressão Cerebral (HNPP) e Charcot-Marie-Tooth 1A (CMT1A)

PMP22 Del/Dup

Neuropatia hereditária com Responsabilidade para Pressão Cerebral (HNPP) e Charcot-Marie-Tooth 1E (CMT1E)

PMP22 Gene Sequencing

Painel CMT Core

GJB1, MFN2, MPZ, PMP22

Painel CMT Axonal

AARS, BSCL2, DNM2, DYNC1H1, GARS, GDAP1, GJB1, HSPB1, HSPB8, LMNA, LRSAM1, MED25, MFN2, MPZ, NEFL, PRPS1, RAB7A, TRPV4, YARS

Painel CMT Desmielinizante

DNM2, EGR2, FGD4, FIG4, GDAP1, GJB1, LITAF, MPZ, MTMR2, NDRG1, NEFL, PMP22, PRPS1, PRX, SBF2, SH3TC2

Distrofia Muscular de Becker/ Duchenne

DMD Del/Dup

Distrofia Muscular de Becker/ Duchenne

DMD Gene Sequencing

Painel de Doenças Neuromusculares (80 genes)

ACTA1, ANO5, ATP2A1, B3GALNT2, BAG3 , BIN1, CACNA1S, CAPN3, CAV3, CFL2, CHKB, CLCN1, CNTN1, COL6A1, COL6A2, COL6A3, CRYAB , DAG1, DES, DMD, DNAJB6, DNM2 , DPM1, DPM2, DPM3, DYNC1H1 , DYSF, EMD, FHL1, FKRP, FKTN, FLCN, GAA, GMPPB, GNE, IGHMBP2, ISPD, ITGA7, KBTBD13, KLHL40, LAMA2, LAMP2, LARGE, LDB3 (ZASP), LMNA, MEGF10, MTM1, MYH7, MYOT, NEB, PLEC1, PLEKHG5 , POMGNT1, POMT1, POMT2, RYR1, SCN4A, SEPN1, SGCA, SGCB, SGCD, SGCG, SIL1, SYNE1, TCAP, TMEM5, TNNI2, TNNT1, TNPO3, TPM2, TPM3, TRIM32, TRPV4 , TTN, UBA1, VRK1

Painel de Distrofia Muscular de Limb-Girdle (24 Genes)

ANO5, CAPN3, CAV3, DES, DMD, DNAJB6, DYSF, FKRP, FKTN, GAA, GMPPB, LMNA, MYOT, POMGNT1, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TRIM32, TTN

Painel de Síndrome Distrofia Muscular Congenital (18 Genes)

B3GALNT2, B3GNT1, DAG1, DPM1, DPM2, DPM3, FKRP, FKTN, GMPPB, ISPD, ITGA7, LARGE, LMNA, POMGNT1, POMT1, POMT2, TMEM5, VRK1

Painel de Distrofia Muscular & Miopatia Congenital (22 Genes) 

ACTA1, BICD2, CFL2, CHKB, COL6A1, COL6A2, COL6A3, FKRP, FKTN, ITGA7, KBTBD13, LAMA2, LMNA, MEGF10, MTM1, NEB, RYR1, SEPN1, SYNE1, TNNT1, TPM2, TPM3

Painel de Miopatia Miofibrilar (8 Genes)

BAG3 , CRYAB , DES, DNAJB6, FHL1, FLNC, LDB3, MYOT

DMPK Repeat Analysis (Myotonic Dystrophy 1 (DM1))

DMPK

CNBP Repeat Analysis (Myotonic Dystrophy 2 (DM2))

CNBP

PABPN1 Repeat Analysis (Oculopharyngeal Muscular Dystrophy)

PABPN1

PABPN1 Repeat Analysis (Oculopharyngeal Muscular Dystrophy) 

AR Repeat Analysis (Spinal & Bulbar Muscular Atrophy)

Congenital Myasthenia Syndromes Panel (14 genes)  Novo



Comprehensive Hereditary Spastic Paraplegia Panel (36 genes) Novo





Uncomplicated Hereditary Spastic Paraplegia Panel (11 genes) Novo




Hereditary Spastic Paraplegia Related Inborn Errors of
Metabolism Panel (14 genes)
  Novo



 

AR


AR

AGRN, ALG2, CHAT , CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, DOK7, DPAGT1, GFPT1, MUSK, RAPSN, SCN4A


AP4B1, AP4E1, AP4M1, AP4S1, ATL1, B4GALNT1, BSCL2 , C12ORF65, CYP2U1, CYP7B1, DDHD1, DDHD2, ERLIN2, FA2H, GBA2, GJC2, KIAA0196, KIF1A , KIF1C, KIF5A, L1CAM, NIPA1, NT5C2, PLP1, PNPLA6, REEP1 (C2ORF23), RTN2, SLC16A2, SPAST, SPG11, SPG20, SPG21, SPG7, TECPR2, VPS37A, ZFYVE26

ATL1, CYP7B1, KIAA0196, KIF1A , KIF5A, NIPA1, REEP1 (C2ORF23), RTN2, SPAST, SPG11, SPG7



ABCD1, ARG1, ARSA, BTD, CYP27A1, GALC, GBE1, GCH1, MMACHC, MTHFR, OPA3, PTS, SPR, TH

 


 

Teste do Genoma Mitocondrial e Genes Nucleares

Mitocondrial

Teste Genes/ Mutações Incluídas

Combined Mito Genome Plus Mito Nuclear Genes

Full mitochondrial genome (including non-specific phenotypes, and MELAS, MERRF, NARP, LHON, MIDD, MICM, LS, KSS, CPEO, Pearson syndrome etc.) PLUS 139 nuclear genes (AARS2, ABCB7, ACAD9, ACO2, ADCK3 (CABC1; COQ8), AFG3L2, AGK, AIFM1, ALAS2, ALDH1B1, APTX, ATP5E, ATPAF2 (ATP12), AUH, BCS1L, BOLA3, C10ORF2 , C12ORF65, C20ORF7, C8ORF38, CISD2, COA5, COQ2, COQ6, COQ9, COX10, COX14, COX15, COX20, COX6B1, DARS2, DGUOK, DLAT, DLD, DNAJC19, DNM1L, EARS2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBP1, FH, FOXRED1, G6PC, GFER, GFM1 (EFG1), GFM2, GYS2, HARS2, HLCS, HSPD1, ISCU, LARS, LIAS, LRPPRC, MARS2, MFN2, MPC1, MPV17, MRPL44, MRPS16, MRPS22, MTFMT, MTO1, MTPAP, NDUFA1, NDUFA9, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFAF1, NDUFAF2, NDUFAF3 (C3ORF60), NDUFAF4 (C6ORF66), NDUFAF7, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NUBPL, OPA1, OPA3, PC , PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, POLG, PNPT1, POLG2, PUS1, RARS2, REEP1, RMND1, RRM2B, SARS2, SCO1, SCO2, SDHAF1, SERAC1, SLC19A3, SLC25A3 (PHC), SLC25A4, SLC37A4, SPG7, SUCLA2, SUCLG1, SURF1, TACO1, TAZ, TIMM8A, TIMM44, TPK1, TK2, TMEM126A, TMEM70, TRMU, TSFM, TTC19, TUFM, TYMP, UQCRB, UQCRQ, WFS1, YARS2)

Teste do Genoma Mitocondrial (mtDNA)

Genoma Mitocondrial do Teste de Deleção e Análise Sequencial de Nova Geração

Genoma mitocondrial completo (incluindo fenótipos inespecíficos, e MELAS, MERRF, NARP, LHON, MIDD, MICM, LS, KSS, CPEO, síndrome de Pearson etc.)

58 Confirmed Disease-Causing mtDNA Point Mutations and Deletion Testing

58 confirmados mutações causadoras de doenças mtDNA pontuais e análise em larga escala eliminação do genoma mitocondrial (incluindo LHON [18 mutações], MELAS [13 mutações], LS / NARP [22 mutações], PAIM / MIDM [10 mutações)] MERRF [6 mutações], KSS, CPEO, síndrome de Pearson, etc)

Genoma Mitocondrial do Teste de Duplicação/Deleção



Normal Mitochondrial Function

Comprehensive Mitochondrial Nuclear Gene Panel (319 Genes)

Mitochondrial Encephalopathy/Leigh Syndrome Nuclear Gene Panel (146 genes)

Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel (153 genes)


Progressive External Ophthalmoplegia (PEO)/Optic Atrophy Nuclear Gene Panel (55 genes)









Methylglutaconic Aciduria Nuclear Gene Panel (13 genes)



POLG Sequence Analysis 


PUS1 Sequence Analysis in Mitochondrial Myopathy, Lactic Acidosis and Sideroblastic Anemia  (MLASA)   

SDHA Sequence Analysis in Mitochondrial Complex II Deficiency (MT-C2D)  


 

Genoma mitocondrial em larga escala de análise de deleção / duplicação do genoma mitocondrial













ACO2, ALG13, ALG3, APTX, AUH, C10ORF2, C12ORF65, CISD2, CLPB, COX7B, DARS, DDHD2, DGUOK, DNA2, DNAJC19, DNM1L, DPM1, EARS2, FH, GYG2, ISCA2, MCEE, MFF, MFN2, MGME1, MOGS, MTFMT, MTO1, MTPAP, NARS2, NDUFAF3 (C3ORF60), NR2F1, OPA1, OPA3, PDHX, PDSS1, POLG, POLG2, PRPS1, RRM2B, SLC19A2, SLC19A3, SLC25A4, SPG7, SRD5A3, STT3B, SUCLA2, TACO1, TIMM8A, TK2, TMEM126A, TSFM, TYMP, VARS2, WFS1


AGK, ATP5E, ATPAF2 (ATP12), AUH, CLPB, DNAJC19, HMGCL, OPA3, POLG, SERAC1, SUCLA2, TAZ, TMEM70


POLG


PUS1


SDHA

 

Neurometabólico

Teste                                                                                                                                                Gene(s)

Deficiência de Palmitoiltransferase Carnitina ll

Sequenciamento CPT2

Deficiência Cobalamina C

Sequenciamento MMACHC

Distonia Responsiva à Dopa

Sequenciamento GCH1 e Del/Dup

Distonia Responsiva à Dopa / Parkinsonismo Infantil / Deficiência de TH

Sequenciamento TH

Doença de Fabry

Sequenciamento GLA

Distúrbios de Oxidação dos Ácidos Graxos

Painel de Sequenciamento de nova geração 15 Genes & Reflex para Del / Dup

Distúrbios do Ciclo da Ureia / Doenças Relacionadas à Hiperamonemia

Painel de Sequenciamento de nova geração 41 Genes & Reflex para Del / Dup

Doença de Krabbe

Sequenciamento GALC e Del/Dup

Acidemia Metilmalónica / Metabolismo da Cobalamina e Doenças Relacionadas

Painel de Sequenciamento de nova geração 14 Genes & Reflex para Del / Dup

Mucolipidose IV

Sequenciamento MCOLN1

Lipofuscinose Ceróide Neuronal 2 (CLN2)

Sequenciamento TPP1

Doença de Niemann Pick Tipo A & B

Sequenciamento SMPD1

Doença de Niemann Pick Tipo C

Sequenciamento NPC1, NPC1

Deficiência de Ornitina Transcarbamilase

Sequenciamento OTC e Análise Del/Dup em mulheres / Sequenciamento OTC somente em homens

Síndrome de Smith Lemli Opitz

Sequenciamento DHCR7

Doença de Tay-Sachs

Sequenciamento HEXA

Doença de Proteína Trifuncional

Sequenciamento HADHB e HADHA

Deficiência VLCAD

Sequenciamento ACADVL


 

Outros Distúrbios Neurológicos

Nome                                                                                                                                                Gene(s)

Síndrome de Aicardi Goutieres

Sequenciamento RNASEH2A, RNASEH2B, RNASEH2C, TREX1

Doença de Alexander

Sequenciamento de GFAP

Síndrome Allgrove (Triple-A)

Sequenciamento AAAS

Síndrome de Angelman

Sequenciamento UBE3A e Del/Dup

Síndrome de Angelman

Síndrome de Angelman e análise de Metilação

Síndrome de Angelman-Like / Síndrome de Christianson

Sequenciamento SLC9A6

Síndrome de Rett Atípica / Espamos Infantis / Síndrome de West

Sequenciamento CDKL5 e Del/Dup

Deficiência Intelectual / Autismo

Cerebral Cavernous Malformations

Coffin-Lowry Syndrome

Cohen Syndrome

Congenital Insensitivity to Pain and Anhidrosis


Cornelia de Lange Syndrome

Erythromelalgia, Small Fiber Neuropathy  

Arranjo CGH de Genoma completo

KRIT1, CCM2, PDCD10 Sequencing and Del/Dup

RPS6KA3 Sequencing and Del/Dup

VPS13B Sequencing

NTRK1 Sequencing


NIPBL, SMC1A Sequencing and Del/Dup

SCN9A Sequencing

Fragile x Síndrome

Gorlin Syndrome

Hereditary Inclusion Body Myopathy

Holoprosencephaly


Incontinentia Pigmenti


Nemaline Myopathy


Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions

Prader-Willi Syndrome

PTEN-Related Disorders

Rubinstein-Taybi Syndorme

Septo-Optic Dysplasia

Simpson-Golabi-Behmel Syndrome


Smith-Magenis Syndrome

Spinal Muscular Atrophy with Respiratory Distress, Type 1

Sotos Syndrome

X-Linked Hydrocephalus / X-Linked Spastic Paraplegia / MASA / CRASH 

 

FMR1 CGG repeat analysis

PTCH1 sequencing and del/dup

Targeted testing for M712T mutation in GNE

SHH, ZIC2, SIX3,TGIF Sequencing and Del/Dup


IKBKG [NEMO] common deletion assay and sequencing for females only


ACTA1 sequencing and Ashkenazi Jewish founder mutation in NEB gene


PRRT2 Sequencing

Prader-Willi Syndrome Methylation Analysis

PTEN Sequencing and Del/Dup

CREBBP Sequencing and Del/Dup

HESX1 Sequencing

GPC3 Sequencing and Del/Dup in females / Sequencing only in males


RAI1 Sequencing and Intragenic Del/Dup

IGHMBP2 Sequencing

NSD1 Sequencing and Del/Dup

L1CAM Sequencing and Del/Dup