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.
Our diagnostic process
From sample to clinical interpretation
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.
We sequence the DNA in our lab with our proprietary targeted sequencing method OS-Seq™, developed at Stanford.
Data analysis and interpretation
We use our own proprietary automated bioinformatics pipeline to produce clinically relevant information - fast and reliably.
Our team of geneticists and clinicians produce a comprehensive clinical statement to support the diagnosis of your patient.
9 diagnostic tests, covering 291 genes
associated with hereditary immunodeficiencies.
Complement System Disorder Panel
Complement System Disorder Panel is a 82 gene diagnostic tool developed for patients with clinical suspicion of defects in the complement system & atypical hemolytic uremic syndrome (aHUS).
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.