There are ~7,000 rare inherited diseases known. The number of germline mutations associated with these inherited diseases now exceed 100,000, focused in multiple gene regions. This test focuses on sequencing ~4,500 genes and ~180 SNPs (single nucleotide polymorphisms) to identify the underlying mutations of the specific diseases, regardless of syndromic physiological conditions.
The Otogenetics Inherited Diseases Gene Testing may help finding new mutations in genetic diseases. Such important information may be used in the future to aid in genetic consultation of familial disorders and and in finding potentially life-saving new treatments.
This Test (for Research Use) was designed to cover the most commonly requested clinical diagnostic assays and allows diagnosis with one comprehensive test.
The Otogenetics Inherited Disease Gene Testing is performed by next generation sequencing using custom oligonucleotide-based target capture followed by Illumina HiSeq sequencing of the coding regions of about ~4,500 genes.
Each Otogenetics report includes a custom bioinformatic analysis specifically made for each project.