Logo-Dreamgenics
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
Hemostasis
Erythrocytosis
Anemias
Porphyrias
Iron Metabolism
Documentation
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Hemostasis I: 5 studies

Hemostasis is a complex process involving the coordinated interaction of platelets, clotting factors, and the fibrinolytic system. The targeted exome tests we offer are designed to investigate disorders that affect the mechanisms responsible for the balance between clotting and bleeding, and include various types of bleeding disorders, platelet disorders, and thrombophilias.
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

Erythrocytosis I: 1 study

Erythrocytosis is defined as an increase in the number of red blood cells and, consequently, in hemoglobin levels due to heightened erythropoiesis. Through this targeted exome analysis, we examine the genes associated with various types of erythrocytosis, as well as polycythemia vera, a condition included in the differential diagnosis of erythrocytosis.
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

Anemia I: 12 studies

Anemias are a diverse group of disorders characterized by a decrease in the number or size of red blood cells or in their hemoglobin levels. Through various targeted exome sequencing approaches, we investigate the major inherited anemias, such as sideroblastic, dyserythropoietic, aplastic, hemolytic, and megaloblastic anemias.
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

Porphyrias I: 1 study

Porphyrias are a group of inherited metabolic disorders caused by abnormalities in the enzymes involved in the heme biosynthesis pathway. This targeted exome test analyzes the genes associated with this condition.
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

Iron Metabolism I: 2 studies

Iron metabolism disorders are caused by imbalances in the homeostasis of iron, an element that is essential for the body. Since iron is essential for the proper functioning of hemoglobin, a deficiency can lead to hematological disorders such as anemia. We offer a targeted exome test that analyzes the genes involved in various iron metabolism disorders, as well as a specific test to analyze the three variants most frequently associated with hemochromatosis.
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, and S65C in the HFE gene.

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