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.
9 diagnostic tests, covering 161 genes
associated with ear-nose-throat conditions.
Non-Syndromic Hearing Loss Panel
Non-Syndromic Hearing Loss Panel is a 94 gene diagnostic tool
developed for patients with clinical suspicion of sensorineural
hearing loss, unilateral and bilateral & non-syndromic
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
Ordering and sample preparation
After receiving a patient’s medical history and sample we start the sample preparations in our 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.