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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
Haemorrhagic disorders
Platelet dysfunction
Thrombophilias
Erythrocytosis
Anemias
Haemoglobinopathies
Iron metabolism defects
Documentation
Application form

Hemorrhagic disorders I 8 studies

Bleeding disorders are abnormalities in blood clotting proteins that can lead to bleeding either spontaneously or after surgery or injury. The most common coagulation disorders are haemophilia and von Willebrand's disease. We offer the study of these pathologies, as well as an extended panel that includes the analysis of less frequent coagulopathies, such as coagulation factor V, VII and X deficiencies.

F8, F9, VWF.
ACVRL1, ENG, F2, F5, F7, F8, F9, F10, F11, F12, F13A1, F13B, FGA, FGB, FGG, GDF2, GGCX, GP1BA, GP1BB, GP9, ITGA2B, ITGB3, KLKB1, KNG1, LMAN1, MCFD2, SERPINF2, SERPINE1, SMAD4, VKORC1, VWF.
F8.
F8.

F9.

GP1BA, VWF.
FGA, FGB, FGG.

ACVRL1, ENG, GDF2, SMAD4.

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

Platelet alteration I 6 studies

Platelet disorders refer to a group of diseases characterised by alterations in the production and function of platelets, cell fragments whose role is essential for proper blood clotting. We offer panels for both platelet dysfunction disorders, where there is an alteration in platelet function, and for diseases involving thrombocytopenia, i.e. a decrease in blood platelets.

ACTN1, ANKRD26, AP3B1, AP3D1, ADAMTS13, BLOC1S3, BLOC1S5, BLOC1S6, CDC42, CYCS, DIAPH1, DTNBP1, ETV6, FLI1, FYB1, GATA1, GFI1b, GNE, GP1BA, GP1BB, GP9, HOXA11, HPS1, HPS3, HPS4, HPS5, HPS6, IKZF5, ITGA2B, ITGB3, JAK2, KIF15, LYST, MASTL, MECOM, MPL, MYH9, NBEAL2, ORAI1, PLAU, PRKACG, RBM8A, RUNX1, SLFN14, SRC, STIM1, TBXA2R, THPO, TPM4, TRPM7, TUBB1, WAS, WIPF1.
ACTN1, ANKRD26, AP3B1, ADAMTS13, BLOC1S3, BLOC1S5, BLOC1S6, CDC42, CYCS, DIAPH1, DTNBP1, EV6, FLI1, FYB1, GATA1, GFI1b, GNE, GP1BA, GP1BB, GP9, HOXA11, HPS1, HPS3, HPS4, HPS5, HPS6, IKZF5, ITGA2B, ITGB3, JAK2, KIF15, LYST, MASTL, MECOM, MPL, MYH9, NBEAL2, ORAI1, PLAU, PRKACG, RBM8A, RUNX1, SLFN14, SRC, STIM1, TBXA2R, THPO, TPM4, TRPM7, TUBB1, WAS, WIPF1.
MPL, THPO.
AP3B1, AP3D1, BLOC1S3, BLOC1S5, BLOC1S6, DTNBP1, HPS1, HPS3, HPS4, HPS5, HPS6.
GP9, GP1BA, GP1BB.
ITGA2B, ITGB3.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Thrombophilias I 3 studies

Thrombophilias are a heterogeneous group of diseases due to alterations in blood coagulation that predispose to blood clotting and increase the risk of thrombosis. We offer the study of hereditary thrombophilias due to alterations in Factor II of coagulation (prothrombin) and Factor V of Leiden, as well as an extended panel where other hereditary thrombophilias are studied, such as Factor IX of Padua or antithrombin deficiency.

F2, F5, F10, F12, F13A1, F13B, F7, F8, F9, FGA, FGB, FGG, HABP2, HRG, MTHFR, PLAT, PROC, PROS1, SERPINA10, SERPINC1, SERPIND1, SERPINE1, SERPINE1, THBD.
F2 20210G>A (c.*97G>A).
F5 1601G>A (c.1601G>A).
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Erythrocytosis I 4 studies

Erythrocytosis is defined as an increase in the number of red blood cells and thus in haemoglobin levels due to an increase in erythropoiesis. Through various studies we analyse different types of familial erythrocytosis as well as polycythaemia vera, a disease included in the differential diagnosis of erythrocytosis.

BPGM, EGLN1, EPAS1, EPO, EPOR, HBA1, HBA2, HBB, JAK2, SH2B3, VHL.
EPOR.
BPGM, EGLN1, EPAS1, EPO, HBA1, HBA2, HBB, VHL.
JAK2.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Anemias I 17 studies

Anaemias are a heterogeneous group of disorders characterised by a decrease in the number or size of red blood cells or their haemoglobin level. The different panels cover the study of the main hereditary anaemias such as sideroblastic anaemia, dyserythropoietic anaemia, aplastic anaemia and haemolytic anaemia.

Sideroblastic anemia and other alterations of the heme group
ABCB7, ALAS2, CISD2, FECH, GATA1, GLRX5, HSCB, HSPA9, LARS2, PUS1, SF3B1, SLC19A2, SLC25A38, STEAP3, TRNT1, UROS, WFS1, YARS2.
SLC25A38, ALAS2, GLRX5, HSPA9, HSCB, SF3B1.
ABCB7, CISD2, LARS2, PUS1, SLC19A2, TRNT1, WFS1, YARS2.
ALAD, ALAS2, CPOX, FECH, GATA1, HFE, HMBS, PPOX, UROD, UROS.
ALAS2, FECH, GATA1, UROS.
Dyserythropoietic anemia
CDAN1, CDIN1, COX4I2, GATA1, KIF23, KLF1, LPIN2, RACGAP1, SEC23B, VPS4A.
Aplastic anemia
ACD, BRCA1, BRCA2, BRIP1, CTC1, DKC1, DNAJC21, ELF1, ERCC4, FAAP100, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, GATA1, MAD2L2, MPL, NHP2, NOP10, NPM1, PALB2, PARN, RAD51, RAD51C, RFWD3, RPL11, RPL15, RPL18, RPL26, RPL27, RPL31, RPL35, RPL35A, RPL5, RPL9, RPS10, RPS15a, RPS17, RPS19, RPS20, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, RTEL1, SBDS, SLX4, SRP54, SRP72, TERC, TERT, THPO, TINF2, TSR2, UBE2T, USB1, WRAP53, XRCC2.
BRCA1, BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAAP100, MAD2L2, PALB2, RAD51, RAD51C, RFWD3, SLX4, UBE2T, XRCC2.
GATA1, RPL5, RPL9, RPL11, RPL15, RPL18, RPL26, RPL27, RPL31, RPL35, RPL35A, RPS7, RPS10, RPS15A, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, TSR2.
ACD, CTC1, DKC1, NHP2, NOP10, NPM1, PARN, RTEL1, TERC, TERT, TINF2, USB1, WRAP53.
DNAJC21, ELF1, SBDS, SRP54.
Hemolytic anemia
AK1, ALDOA, ANK1, BPGM, ENO1, EPB41, EPB42, G6PD, GCLC, GPI, GPX1, GSR, GSS, GYPC, HK1, HMOX1, KCNN4, MTTP, NT5C3A, PFKM, PGK1, PIEZO1, PKLR, RhAG, SLC4A1, SPTA1, SPTB, TPI1, XK.
ANK1, EPB41, EPB42, GYPC, KCNN4, PIEZO1, RhAG, SLC4A1, SPTA1, SPTB.
EPB41, GYPC, SPTA1, SPTB.
ANK1, EPB42, SLC4A1, SPTA1, SPTB.
KCNN4, PIEZO1, RhAG, SLC4A1.
AK1, ALDOA, BPGM, ENO1, G6PD, GCLC, GPI, GPX1, GSR, GSS, HK1, HMOX1, NT5C3A, PFKM, PGK1, PKLR, TPI1.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Hemoglobinopathies I 9 studies

Haemoglobinopathies are diseases in which there is a defect in the synthesis of one or more of the globin chains that form haemoglobin, the protein responsible for transporting oxygen to the body's tissues. They are divided into thalassaemias, when there is a quantitative defect and one or more globin chains are not produced, or structural haemoglobinopathies, when the defect is qualitative. We provide panels for the study of the different types of thalassaemias and other types of haemoglobinopathies.

Thalassemias
GATA1, HBB, HBA1, HBA2, HBD.
HBA1, HBA2.
HBB, GATA1.
HBB, HBD.
HBB.
Other haemoglobinopathies
CYB5A, CYB5R3, GATA1, HBA1, HBA2, HBB, HBD, HBG1, HBG2, KLF1.
HBG1, HBG2, KLF1.
CYB5A, CYB5R3.
HBG2.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days

Defects of iron metabolism I 3 studies

Diseases of iron metabolism are due to imbalances in the homeostasis of iron, an essential element for the organism. Since iron is essential for the proper functioning of hemoglobin, its deficiency leads to the development of hematological disorders such as anemia. We offer an expanded panel for the different iron metabolism diseases, as well as a specific panel for hemochromatosis, a disease characterized by high iron absorption, which accumulates until it damages the organs.

CP, BMP2, FTH1, FTL, FXN, HAMP, HFE, HJV, TF, TFR2, TMPRSS6, SLC11A2, SLC40A1.
HFE (C282Y, H63D, S65C).
BMP2, HAMP, HFE, HJV, TFR2, SLC40A1.
Targeted Exoma
Information
  • Analysis: SNVs, Indels and CNVs
  • Medium coverage: >100X
  • Delivery time: 30 working days