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Immunology

Accurate genetic diagnosis of the immunodeficiency, combined with a detailed disease phenotype, is crucial in characterizing these rare diseases. It also improves treatment and follow-up strategies for affected patients and their family members.

 

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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 CAP & ISO 15189 accredited and 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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What genetic diagnostics can offer patients with hereditary immunodeficiencies

Fast and reliable diagnosis of primary immunodeficiencies (PIDs) can be life-saving. Certain defects necessitate prompt stem cell transplantation to prevent organ damage caused by opportunistic infections, and to avoid an inevitable fatal outcome associated with the natural course of the disease. Some PIDs require personalized follow-up and supportive care to improve the outcome of affected patients.

All defects causing bone marrow failure lead to severe immunosuppression and may necessitate stem cell transplantation as the preferred treatment. An increased risk of cancers is characteristic in almost all immunodeficiencies. Some immunodeficiencies, such as defects in the complement pathway, may also present later
in life with characteristics related to an abnormal outcome of common infections.

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