TEST CODE: 008844

DIAGNOSTIC TEST FOR: EAR, NOSE & THROAT

TURNAROUND TIME: 10–21 calendar days (14 days on average)

PREFERRED SPECIMEN: 3mL whole blood in a purple-top tube

ALTERNATE SPECIMENS: DNA or saliva/assisted saliva

Genetic testing for Ear, Nose  and Throat

Our panels include over 3,900 genes selected based on curated gene reviews, variant databases (HGMD and ClinVar), most recent literature, and customer requests. We offer enhanced clinical utility, maximized diagnostic yield, empowered differential diagnosis as well as analytically validated up-to-date genes across all our panels. Difficult-to-sequence genes are covered with high quality enabling true diagnostic impact in challenging patient cases.

NGS-based genetic diagnostics are becoming a mainstream practice for conditions associated with hearing loss and deafness. It is also recommended by 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.

What genetic diagnostics can be offered to patients with Ear, Nose &Throat diseases?

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. It provides the necessary information to make confident individualized treatment and management decisions. Additionally, genetic diagnosis can help in family planning.

What are the benefits of genetic testing?

Genetic testing produces information that may help you or your healthcare provider:

– establish or confirm your specific diagnosis 


– provide an explanation of the underlying cause 
of your heart condition

– uncover potential risk of developing an underlying, multi-system condition that affects more than your heart 


– make informed medical decisions and provide an opportunity to start risk reduction strategies 


– identify other at-risk relatives for whom genetic testing is recommended 


– make informed family planning decisions 


Genomed’s Ear, Nose & Throat panels

– Alport Syndrome Panel

– Branchio-Oto-Renal (BOR) Syndrome Panel

– Comprehensive Hearing Loss and Deafness Panel

– Hereditary Hemorrhagic Telangiectasia (HHT) Panel

– Non-Syndromic Hearing Loss Panel

– Pendred Syndrome Panel

– Stickler Syndrome Panel

– Syndromic Hearing Loss Panel

– Usher Syndrome Panel

– Waardenburg Syndrome Panel

Please contact us for the complete list of genes included on the multi-Ear, Nose & Throat panel and associated conditions.

What are the potential results?

A POSITIVE TEST RESULT CAN:

If testing identifies a variant associated with heart disease, consult with your healthcare provider to create a management plan and to identify relatives who may need to be tested.

A NEGATIVE TEST RESULT:

If testing identifies no variants associated with a hereditary heart disease, the underlying cause of your heart condition remains unknown. As our knowledge of genetics improves, additional genetic testing may become available.

AN UNCERTAIN VARIANT TEST RESULT:

In some cases, testing can identify a variant, but it is not known at this time whether the variant is associated with heart disease. If new information about your family history of heart conditions becomes available, this could change what your test results mean for you and your relatives. Always let your healthcare provider know if there are any updates regarding your family medical history.

Take action based on your results.

With Genomed, you can make health decisions based on your results. Our medical-grade tests are the same tests used by doctors and genetic counselors. Based on your results, you can work with your healthcare provider to consider:

– increased or earlier screenings

– lifestyle modifications

– early intervention to prevent the onset of disease