Hematology

Most hematologic disorders have a genetic link – highlighting the importance of quick and comprehensive answers. We have identified genetic variants associated with hematological diseases in more than 300 different genes. Our genetic tests leverage our rare disease-centric Bio/Databank and our in-house medical expertise to provide accurate and precise diagnoses, prognoses, and potential treatment options, when applicable.

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Blood coagulation panel

Our blood coagulation panel contains genes to diagnose thrombophilia, thrombocytopenia, hereditary hemorrhagic telangiectasia, ARC syndrome, Hermasky-Pudlak syndrome, coagulation factor disorders, hemophilia, and platelet related disorders.

No. of genes: 112
TAT: 25 business days
Coverage: ≥99.00% ≥20x
Details:
NGS including CNV analysis
Targeted mutation analysis: F8

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COMMON SYNDROMES AND DISORDERS COVERED
  • Afibrinogenemia
  • Arthrogryposis-renal dysfunction-cholestasis syndrome
  • Coagulation factor disorders
  • Hemophilia
  • Hereditary angioedema
  • Hereditary hemorrhagic telangiectasia
  • Hermasky-Pudlak syndrome
  • Platelet related disorders
  • Shwachman-Diamond syndrome
  • Thrombocytopenia­
  • Thrombophilia

Bone marrow failure / Anemia panel

Our bone marrow failure / Anemia panel is intended for patients with abnormalities in more than two blood cell types (red blood cell, white blood cell, and platelets) who present symptoms of lethargy, recurrent infections, excessive bleeding, abnormal pigmentation, enlarged spleen, and malignancies. Some specific disorders detected with this panel are hemophagocytic lymphohistiocytosis, Seckel syndrome, thrombocytopenia, Fanconi anemia, dyskeratosis congenita, Shwachman Diamond syndrome as well as other types of anemias, such as thalassemia alpha and beta, sickle cell disease, spherocytosis, megaloblastic anemia, congenital sideroblastic, and dyserythropoietic anemia.

No. of genes: 214
TAT: 25 business days
Coverage: ≥99.00% ≥20x
Details:
NGS including CNV analysis

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COMMON SYNDROMES AND DISORDERS COVERED
  • Bleeding disorders
  • Bone marrow failure syndrome
  • Congenital dyserythropoietic anemia
  • Congenital sideroblastic anemia
  • Diamond-Blackfan anemia
  • Fanconi anemia
  • Hemolytic anemias
  • Hemophagocytic lymphohistiocytosis
  • Hereditary spherocytosis
  • Megaloblastic anemia
  • Seckel syndrome
  • Sitosterolemia
  • Thrombocytopenia

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CentoPortal® is a user-friendly, online, web-based ordering portal designed to assist you at every step of processing your patients' samples.

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