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Logo-Dreamgenics

Hematology

Most hematological disorders have a known genetic component, so genetic diagnosis allows a differential analysis to determine the disease presented by these patients.
Clinical areas
Hemostasia
Erythrocytosis
Anemias
Porfirias
Metabolismo del hierro
Documentation
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Hemostasia I 5 estudios

La hemostasia es un proceso complejo que involucra la interacción coordinada de plaquetas, factores de coagulación y el sistema fibrinolítico. Los exomas dirigidos que ofrecemos están dirigidos al estudio de trastornos que afectan los mecanismos responsables del equilibrio entre la coagulación y el sangrado, e incluyen distintos tipos de trastornos hemorrágicos, alteraciones plaquetarias y trombofilias.
A2ML1, ABCC6, ABCG5, ABCG8, ACP5, ACTA2, ACTB, ACTN1, ACVRL1, ADA2, ADAMTS13, ALPK3, ANKRD26, ANO6, ANTXR1, AP3B1, AP3D1, APOH, APP, ARHGEF17, ARPC1B, BLOC1S3, BLOC1S5, BLOC1S6, BMP10, BMPR1A, BMPR2, BRAF, CBL, CCM2, CD36, CDC42, CHST14, COL1A1, COL3A1, COL4A1, COL4A2, COL5A1, COL5A2, CYCS, DDAH2, DIAPH1, DTNBP1, ELMO2, ELN, ENG, EPHB2, EPHB4, ETV6, F10, F11, F12, F13A1, F13B, F2, F2R, F3, F5, F7, F8, F9, FERMT3, FGA, FGB, FGG, FLI1, FLNA, FLT4, FYB1, GALE, GATA1, GBA1, GDF2, GFI1b, GFI1B, GGCX, GNAQ, GNE, GP1BA, GP1BB, GP6, GP9, GUCY1A1, HOXA11, HPS1, HPS3, HPS4, HPS5, HPS6, HRAS, IKZF5, IL6, ITGA2, ITGA2B, ITGB3, JAG1, JAK2, KAT6B, KDR, KDSR, KIF15, KLKB1, KNG1, KRAS, KRIT1, LMAN1, LYST, LZTR1, MAP2K1, MAP2K2, MAP3K8, MASTL, MCFD2, MECOM, MPIG6B, MPL, MRTFA, MYH9, NBEA, NBEAL2, NF1, NRAS, NRP2, ORAI1, P2RX1, P2RY12, PCNT, PDCD10, PIK3CA, PLA2G4A, PLAT, PLAU, PPP1CB, PRKACG, PROZ, PTGS1, PTPN11, PTPRJ, RAF1, RAP1B, RASA1, RASA2, RASGRP2, RBM8A, RGS2, RIT1, RNF213, RRAS, RUNX1, SAMHD1, SERPINE1, SERPINE2, SERPINF2, SHOC2, SLC2A10, SLC45A2, SLFN14, SMAD1, SMAD4, SOS1, SOS2, SOX17, SPRED1, SPRY1, SRC, STIM1, STXBP2, SYNGAP1, TBXA2R, TBXAS1, TEK, THBD, THPO, THSD1, TNXB, TPM4, TRPM7, TUBA8, TUBB1, UNC13D, VIPAS39, VKORC1, VPS33B, VWF, WAS, WDR1, WIPF1.
ACTN1, ACVRL1, ANO6, CD36, ENG, EPHB2, F10, F11, F12, F13A1, F13B, F2, F3, F5, F7, F8, F9, FGA, FGB, FGG, FLI1, GDF2, GFI1B, GGCX, GP1BA, GP1BB, GP6, GP9, ITGA2B, ITGB3, KLKB1, KNG1, LMAN1, MCFD2, NBEAL2, P2RY12, PLAU, PRKACG, PROZ, RASGRP2, SERPINE1, SERPINE2, SERPINF2, SLFN14, SMAD4, TBXA2R, TPM4, VKORC1, VWF.
ABCG5, ABCG8, ACP5, ACTB, ACTN1, ADAMTS13, ANKRD26, ANO6, AP3B1, AP3D1, ARPC1B, BLOC1S3, BLOC1S5, BLOC1S6, BRAF, CD36, CDC42, CYCS, DIAPH1, DTNBP1, EPHB2, ETV6, FLI1, FLNA, FYB1, GALE, GATA1, GFI1b, GFI1B, GNE, GP1BA, GP1BB, GP6, GP9, HOXA11, HPS1, HPS3, HPS4, HPS5, HPS6, HRAS, IKZF5, ITGA2, ITGA2B, ITGB3, JAK2, KIF15, KRAS, LYST, MASTL, MECOM, MPIG6B, MPL, MYH9, NBEAL2, NRAS, ORAI1, P2RY12, PLA2G4A, PLAU, PRKACG, PTPN11, PTPRJ, RAF1, RAP1B, RASA1, RASA2, RASGRP2, RBM8A, RIT1, RRAS, RUNX1, SHOC2, SLFN14, SOS1, SOS2, SPRED1, SRC, STIM1, TBXA2R, TBXAS1, THPO, TPM4, TRPM7, TUBA8, TUBB1, WAS, WDR1, WIPF1.
ADAMTS13, ALOX5AP, CALR, CBS, F10, F12, F13A1, F13B, F2, F3, F5, F7, F8, F9, FGA, FGB, FGG, HABP2, HRG, MPL, MTHFR, PIGA, PLAT, PLG, PROC, PROCR, PROS1, PROZ, SERPINA10, SERPINC1, SERPIND1, SERPINE1, SH2B3, TFPI, THBD, THPO.

F5 1601G>A (c.1601G>A), F2 20210G>A (c.*97G>A).

Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Eritrocitosis I 1 estudio

La eritrocitosis se define como un aumento de la cantidad de glóbulos rojos y, por lo tanto, de los niveles de hemoglobina debido a una activación elevada de la eritropoyesis. Mediante este exoma dirigido analizamos los genes asociados a diferentes tipos de eritrocitosis así como la policitemia vera, enfermedad incluida en el diagnóstico diferencial de las eritrocitosis.
BPGM, EGLN1, EPAS1, EPO, EPOR, HBA1, HBA2, HBB, JAK2, PIEZO1, SH2B3, SLC30A10, VHL.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Anemias I 12 estudios

Las anemias son un grupo heterogéneo de trastornos caracterizados por una disminución en el número o tamaño de los glóbulos rojos o de su nivel de hemoglobina. Mediante diversos exomas dirigidos abordamos el estudio de las principales anemias hereditarias como la anemia sideroblástica, diseritropoyética, aplásica, hemolítica y megaloblástica.
ABCB6, ABCB7, ABCD4, ABCG5, ABCG8, ACD, ADA, ADA2, ADAMTS13, ADH5, AK1, ALAD, ALAS2, ALDOA, AMMECR1, AMN, ANK1, ATP11C, ATP7B, BPGM, BRCA1, BRCA2, BRIP1, C3, CASP10, CD19, CD27, CD40LG, CD46, CD59, CD81, CDAN1, CDIN1, CFB, CFH, CFHR1, CFHR3, CFI, CIITA, CISD2, COL4A1, COX4I2, CPOX, CR2, CTC1, CTLA4, CUBN, CYB5A, CYB5R3, DCLRE1B, DGKE, DHFR, DKC1, DNAJC21, DNASE1, DUT, EFL1, ELANE, ELF1, ENO1, EPB41, EPB42, EPO, ERCC4, FAAP100, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, FCGR2A, FCGR2B, FECH, FOXP3, FTCD, FZD6, G6PD, GALT, GATA1, GATA2, GCLC, GFI1, GLRX5, GP1BA, GP1BB, GP9, GPI, GPX1, GSR, GSS, GYPC, HBA1, HBA2, HBB, HBD, HBG1, HBG2, HCFC1, HEATR3, HK1, HLA-DRB1, HMOX1, HOXA11, HPRT1, HSCB, HSPA9, ICOS, IFNG, IL2RA, IL2RB, KCNN4, KDM6A, KIF23, KLF1, KMT2D, KRAS, LARS2, LAT, LCAT, LDHA, LMBRD1, LMX1B, LPIN2, LRBA, MAD2L2, MIF, MMACHC, MMADHC, MPL, MS4A1, MTHFD1, MTR, MTRR, MTTP, NAF1, NBN, NDUFB11, NFKB1, NFKB2, NHLRC2, NHP2, NLRP1, NOP10, NPM1, NRAS, NT5C3A, PALB2, PARN, PFKM, PGK1, PGM3, PIEZO1, PIGA, PIGM, PIGT, PKLR, PNP, POT1, PRDX1, PRF1, PRKCD, PTPN22, PUS1, RACGAP1, RAD51, RAD51C, RAG1, RAG2, RASGRP1, RFWD3, RFX5, RFXANK, RFXAP, RHAG, RHCE, RHD, RPA1, RPL11, RPL15, RPL17, RPL18, RPL19, RPL26, RPL27, RPL31, RPL35, RPL35A, RPL5, RPL8, RPL9, RPS10, RPS15, RPS15A, RPS15a, RPS17, RPS19, RPS20, RPS24, RPS26, RPS27, RPS27A, RPS28, RPS29, RPS7, RTEL1, SAMD9, SAMD9L, SBDS, SEC23B, SF3B1, SLC11A2, SLC19A1, SLC19A2, SLC25A38, SLC2A1, SLC46A1, SLC4A1, SLX4, SOD1, SPTA1, SPTB, SRP54, SRP72, STAT1, STAT3, STAT4, STEAP3, STIM1, STN1, TCIRG1, TCN2, TERT, TET2, TF, THAP11, THBD, THPO, TINF2, TMPRSS6, TNFAIP3, TNFRSF13B, TNFRSF13C, TNFRSF4, TPI1, TPP2, TREX1, TRNT1, TSR2, TTC7A, TYMS, UBE2T, UMPS, UROD, UROS, USB1, VPS4A, WAS, WFS1, WIPF1, WRAP53, XIAP, XK, XRCC2, YARS2, ZAP70, ZCCHC8.

ABCB7, ALAS2, CISD2, FECH, GATA1, GLRX5, HSCB, HSPA9, LARS2, PUS1, SF3B1, SLC19A2, SLC25A38, STEAP3, TET2, TRNT1, UROS, WFS1, YARS2.

CDAN1, CDIN1, COX4I2, GATA1, KIF23, KLF1, LPIN2, RACGAP1, SEC23B, VPS4A.
ACD, ADA2, ALAS2, BRCA1, BRCA2, BRIP1, CD27, CDAN1, CDIN1, COX4I2, CTC1, DCLRE1B, DKC1, DNAJC21, DUT, EFL1, ELANE, ELF1, EPO, ERCC4, FAAP100, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FZD6, GATA1, GATA2, GFI1, HEATR3, HOXA11, IFNG, KIF23, KLF1, LMX1B, LPIN2, MAD2L2, MPL, NAF1, NBN, NHP2, NOP10, NPM1, PALB2, PARN, PIGA, POT1, PRF1, RAD51, RAD51C, RFWD3, RPA1, RPL11, RPL15, RPL17, RPL18, RPL19, RPL26, RPL27, RPL31, RPL35, RPL35A, RPL5, RPL8, RPL9, RPS10, RPS15, RPS15A, RPS15a, RPS17, RPS19, RPS20, RPS24, RPS26, RPS27, RPS27A, RPS28, RPS29, RPS7, RTEL1, SAMD9, SAMD9L, SBDS, SEC23B, SLX4, SRP54, SRP72, STN1, TCIRG1, TERT, THPO, TINF2, TSR2, TYMS, UBE2T, USB1, WRAP53, XIAP, XRCC2, ZCCHC8.
ADA2, EPO, GATA1, HEATR3, RPL11, RPL15, RPL18, RPL26, RPL27, RPL31, RPL35, RPL35A, RPL5, RPL8, RPL9, RPS10, RPS15, RPS15A, RPS17, RPS19, RPS20, RPS24, RPS26, RPS27, RPS27A, RPS28, RPS29, RPS7, TSR2.
ACD, CTC1, DCLRE1B, DKC1, DNAJC21, DUT, FZD6, LMX1B, NAF1, NHP2, NOP10, NPM1, PARN, POT1, RPA1, RTEL1, STN1, TERT, TINF2, TYMS, USB1, WRAP53, ZCCHC8.
BRCA1, BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAAP100, MAD2L2, PALB2, RAD51, RAD51C, RFWD3, SLX4, UBE2T, XRCC2.
ABCG8, AK1, ALDOA, AMMECR1, ANK1, BPGM, CYB5A, CYB5R3, ENO1, EPB41, EPB42, G6PD, GATA1, GCLC, GPI, GPX1, GSR, GSS, GYPC, HBA1, HBA2, HBB, HBD, HBG1, HBG2, HK1, HMOX1, KCNN4, KLF1, LDHA, NT5C3A, PFKM, PGK1, PIEZO1, PKLR, RHAG, SLC4A1, SOD1, SPTA1, SPTB, TPI1.
ABCG8, AMMECR1, ANK1, EPB41, EPB42, GYPC, KCNN4, PIEZO1, RHAG, SLC4A1, SPTA1, SPTB.
AK1, ALDOA, BPGM, CYB5A, CYB5R3, ENO1, G6PD, GCLC, GPI, GPX1, GSR, GSS, HK1, HMOX1, LDHA, NT5C3A, PFKM, PGK1, PKLR, SOD1, TPI1.
CYB5A, CYB5R3, GATA1, HBA1, HBA2, HBB, HBD, HBG1, HBG2, KLF1.
ABCD4, AMN, CUBN, DHFR, FTCD, HCFC1, HPRT1, LMBRD1, MMACHC, MMADHC, MTHFD1, MTR, MTRR, PRDX1, SLC19A1, SLC19A2, SLC46A1, THAP11, UMPS, WFS1.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Porfirias I 1 estudio

Las porfirias son un grupo de trastornos metabólicos hereditarios causados por alteraciones en las enzimas implicadas en la vía de biosíntesis del grupo hemo. Este exoma dirigido analiza los genes asociados a esta patología.
ALAD, ALAS2, CLPX, CPOX, FAH, FECH, GATA1, HFE, HMBS, PPOX, UROD, UROS.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Metabolismo del hierro I 2 estudios

Las enfermedades del metabolismo del hierro se producen por alteraciones en la homeostasis de este elemento, fundamental para el organismo. Dado que el hierro es esencial para el correcto funcionamiento de la hemoglobina, su déficit puede provocar trastornos hematológicos como la anemia. Ofrecemos un exoma dirigido que analiza los genes implicados en diversas enfermedades del metabolismo del hierro y un estudio específico para el análisis de las tres variantes más frecuentemente asociadas a hemocromatosis.
ABCB7, ALAS2, ATP13A2, ATP7B, B2M, BMP2, BMP6, C19orf12, CDAN1, CDIN1, CISD2, COX4I2, CP, FA2H, FECH, FTH1, FTL, GATA1, GBA1, GLRX5, HAMP, HEPH, HFE, HJV, HSCB, HSPA9, KIF23, KLF1, LARS2, LPIN2, PANK2, PLA2G6, PUS1, SEC23B, SF3B1, SLC11A2, SLC19A2, SLC25A38, SLC40A1, STAB1, STEAP3, TF, TFR2, TMPRSS6, TRNT1, UROS, WDR45, WFS1, YARS2.

C282Y, H63D, S65C en el gen HFE.

Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days