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Ear Nose & Throat

We offer comprehensive genetic diagnostics for all types of hereditary hearing loss and deafness. These diseases include nonsyndromic hearing loss, as well as syndromes in which hearing loss and deafness present along with defects affecting other parts of the body.

 

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Genetic diagnostics for Ear-Nose-Throat diseases

NGS-based genetic diagnostics is becoming a mainstream practice in conditions associated with hearing loss and deafness, and is also recommended in international guidelines (American College of Medical Genetics and Genomics (ACMG) and PMID: 24941903 and 24651602). Considering the great number of genes involved in hereditary hearing loss and deafness, NGS-based panel testing is generally accepted as the most cost-effective primary diagnostics option.

Numerous genes are implicated in hereditary hearing loss and deafness. Pathogenic variants in any of these genes may present a cause of hereditary hearing loss and deafness. Therefore, the success of genetic counseling and risk assessment greatly depends on accurate and specific determination of the genetic diagnosis. Together with clinical diagnosis, genetic diagnosis is key to understanding the inheritance pattern and prognosis of the disease. Genetic diagnostics is the most efficient way to subtype these diseases, and provides the necessary information to make confident individualized treatment and management decisions. Additionally, genetic diagnosis can help in family planning.

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
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  2. Sequencing
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  3. Analysis
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  4. Report
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