Otogenetics is a CAP-accredited clinical laboratory specialized in Next Generation Sequencing (NGS) based genetic testing, and other molecular and genetic diagnostic testing. Test offering includes Carrier Screening, NIPT, Hereditary Cancer Risk Assessment, Deafness Gene testing, Molecular Screening of Congenital Hearing Loss, Familial Hypercholesterolemia and Hyperlipidemia, genetic testing for other rare genetic diseases, and clinical Exome sequencing. In addition, Otogenetics participates in clinical trials and offers research services for exome sequencing, targeted panel sequencing, and RNA Sequencing.
Results from genetic diagnoses and research performed at Otogenetics resulted in publications in highly reputable biomedical journals including Nature and Nature Medicine; attesting to the high caliber and quality of the gene panel design offered by the company. Otogenetics also assists medical schools in training a new generation of medical students in Precision Medicine.
Deep Exome Sequencing by Otogenetics for Clinical Researchers leads to discovery of key somatic mutations in MAP2K1 in melorheostotic* bones of patients. (*Melorheosis is characterized by excess bone formation on the surface of the bone.
Combined mutation in Vhl, Trp53 and Rb1 causes clear cell renal cell carcinoma in mice Read the full article here
Otogenetics hearing loss gene test lend the tool for clinicians to discover an autosomal dominant hearing loss mutation in POU4F3 gene. This particular variant t cosegregated with hearing loss in family members but was not detected in 580 normal hearing…
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