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Hematology

Accurate genetic diagnosis is necessary to confirm the diagnosis of certain hematological malignancies and to find the optimal treatment for affected patients. Establishing the underlying genetic defect and inheritance pattern further allows family member testing to identify at-risk relatives.

 

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Genetic diagnostics for hematological diseases

Depending on the underlying defect, and the affected hematological cell populations, symptoms in hematological conditions can vary from bleeding disorders to severe anemia, or may cause significant immunosuppression. Furthermore, the inherited defects in coagulopathy may also cause thrombophilia, increasing the risk of thrombosis during childhood. All genetic defects that cause bone marrow failure lead to severe immunosuppression, possibly necessitating stem cell transplantation as a curative choice of treatment.

We offer comprehensive genetic diagnostics for a broad range of hematological disorders varying from bone marrow failure to specific disorders affecting various cell populations, or factors involved in hemostasis. These include congenital defects in neutrophils, inherited disorders affecting platelets and platelet function, and a broad spectrum of red blood cell disorders.

Our diagnostic process

From sample to clinical interpretation

  1. Ordering and sample preparation

    After receiving a patient’s medical history and sample we start the sample preparations in our CLIA certified laboratory.

  2. Sequencing

    We sequence the DNA in our lab with our proprietary targeted sequencing method OS-Seq™, developed at Stanford.

  3. Data analysis and interpretation

    We use our own proprietary automated bioinformatics pipeline to produce clinically relevant information - fast and reliably.

  4. Clinical statement

    Our team of geneticists and clinicians produce a comprehensive clinical statement to support the diagnosis of your patient.

  1. Sample
    order process image
  2. Sequencing
    order process image
  3. Analysis
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  4. Report
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