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    • 10010-FERRITIN-GeneTest
    • 10020-SIDEROBLAST-GeneTest
    • 10030-IRON-COPPER-GeneTest
    • 10040-DYSERYTHROPOIETIC-GeneTest
    • 10050-ERYTHROCYTOSIS-GeneTest
    • 10061-RBC ENZYMOPATHY-GeneTest
    • 10062-RBC MEMBRANOPATHY-GeneTest
    • 10070-HEMOLYTIC ANEMIA-GeneTest
    • 10080-PORPHYRIA-GeneTest
    • 10090-FANCONI-GeneTest
    • 10100-DBA-GeneTest
    • 10110-DYSKERATOSIS-GeneTest
    • 10111-BONE MARROW FAILURE-GeneTest
    • 10120-NBIA-GeneTest
    • 20050-HHCS-SangerTest
    • 20051-HFE-SangerTest
    • 20010, 20020, 20030-FAMILIAL-SangerTest
    • 90010-BIOCHEMICAL HEPCIDIN Test
    • 90020-BIOCHEMICAL LPI Test
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  • Quality
    • Publications
    • Congress presentations and contributions
    • Quality accreditations and certificates
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  • Home
  • Company
    • Team
    • Values
  • Services
    • 10010-FERRITIN-GeneTest
    • 10020-SIDEROBLAST-GeneTest
    • 10030-IRON-COPPER-GeneTest
    • 10040-DYSERYTHROPOIETIC-GeneTest
    • 10050-ERYTHROCYTOSIS-GeneTest
    • 10061-RBC ENZYMOPATHY-GeneTest
    • 10062-RBC MEMBRANOPATHY-GeneTest
    • 10070-HEMOLYTIC ANEMIA-GeneTest
    • 10080-PORPHYRIA-GeneTest
    • 10090-FANCONI-GeneTest
    • 10100-DBA-GeneTest
    • 10110-DYSKERATOSIS-GeneTest
    • 10111-BONE MARROW FAILURE-GeneTest
    • 10120-NBIA-GeneTest
    • 20050-HHCS-SangerTest
    • 20051-HFE-SangerTest
    • 20010, 20020, 20030-FAMILIAL-SangerTest
    • 90010-BIOCHEMICAL HEPCIDIN Test
    • 90020-BIOCHEMICAL LPI Test
  • News
    • Projects
  • Jobs
  • Quality
    • Publications
    • Congress presentations and contributions
    • Quality accreditations and certificates
    • Others
  • Contact

SERVICES

Genetic and biochemical studies

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Genetic studies

by NGS Panels
  • Panel for Hereditary Hemochromatosis and Hyper- / Hypoferritinemia (Code 10010)
  • Panel for Congenital sideroblastic Anemia and acquired sideroblastic Anaemia (Code 10020)
  • Panel for Iron-related Anemia (Code 10030)
  • Panel for Congenital dyseritropoietic anemia (Code 10040)
  • Panel for Congenital Erythrocytosis / Familial Polycythemia (Code 10050)
  • Panel for Hereditary Hemolytic Anemias due to red blood cell enzymopathies or Glycogen storage disease (Code 10061)
  • Panel for Hereditary Hemolytic Anemias due to Membranopathies (spherocytosis, elliptocytosis, pyropoycylocytosis, ovalocytosis, stomatocytosis) and Gilbert syndrome as a modifier factor (Code 10062)
  • Panel for hereditary hemolytic anemia including membranopathies and enzymopathy (Code 10070)
  • Panel for Congenital Erythropoietic Protoporphyria and Congenital erytropoietic Porphyria (Code 10080)
  • Panel for Fanconi anemia Code (10090)
  • Panel for Diamond-Blackfan Anaemia (Code 10100)
  • Panel for dyskeratosis congenita (Code 10110)
  • Panel for bone marrow failure (Code 10111)
  • Panel for Neurodegeneration with Brain Iron Accumulation Disorders (Code 10120)

by Sanger

  • Hereditary Hyperferritinemia with cataracts Syndrome (HHCS, exon 1 FTL) (Code 20050)
  • Initial study for Hereditary Hemochromatosis (C282Y mutation in HFE gene) (Code 20051)
  • Familial Genetic study of a known mutation by Sanger, study of one/two/three mutation/s in one gene (Code 20010, 20020, 20030)
  • Full HBB’s gene Sanger study (Code 20052)

Data analysis studies

  • NGS panel data analysis study (Code 30010) 
  • Whole Exome Sequencing (WES) data analysis study (Code 30020)
REQUEST
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Biochemical studies

Biochemical study of serum or plasma hepcidin measurement by ELISA kit (Code 90010)

Biochemical study of Labile Plasma Iron (LPI) measurement in serum or plasma (Aferrix kit) (Code 90020)

REQUEST
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