The Blueprint Genetics Hereditary Hemorrhagic Telangiectasia (HHT) Panel is a four-gene test for genetic diagnostics of patients with clinical suspicion of hereditary hemorrhagic telangiectasia.Read more
Ear, Nose & ThroatWe 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.
Genetic testing for ear, nose & throat
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 offer 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.
A selection of our ear, nose & throat panels
The Blueprint Genetics Waardenburg Syndrome Panel is a six gene test for genetic diagnostics of patients with clinical suspicion of Waardenburg syndrome, types I – IV.Read more
The Blueprint Genetics Comprehensive Hearing Loss and Deafness Panel is a 158 gene test for genetic diagnostics of patients with clinical suspicion of Alport syndrome, branchio-oto-renal (BOR) syndrome, non-syndromic genetic deafness, Pendred syndrome, sensorineural hearing loss, unilateral and bilateral, Stickler syndrome, Usher syndrome or Waardenburg syndrome.Read more
Find the right test for your patient
Published on June 15, 2017
There is a significant completion to drive down the price and TAT of genetic diagnostics. To survive in this competition, laboratories have to either rigorously innovate or then make compromises in quality and performace standards. In an untransparent diagnostic environment, health care professionals have a hard time to evaluate optimal and best testing for their patients.
Looking for transparency Dr. Tero-Pekka Alastalo discusses how sequencing technologies and the chosen strategy in a lab can define quality and yield, highlighting bioinformatics and interpretation as being the biggest challenges in the current market. He also discusses what can make a lab transparent in its services and what is…See more