OUR TECHNOLOGY

Medical Grade Sequencing: 

DNA sequencing explained:

With genomics, accuracy is paramount. We use medical grade technologies and processing. This isn’t just about reading genetic code; it’s about deciphering it with precision and clarity for actionable results.

Why medical grade matters:

  • Depth of Analysis: Medical grade sequencing reads each DNA segment multiple times and deeply to ensure raw data can be properly processed.

  • Comprehensive Coverage: Consumer grade and old technology tests are not medical grade. Only the raw data properly processed can identify variants and polymorphisms.

  • Tailored Treatments: With greater clarity comes the ability to personalise treatments. Only the raw data properly analysed and reported gives medical practitioners the tools to tailor treatments to the unique genetic makeup of each individual.

Genes work together, not in isolation:

Early genetic testing approaches use oversimplified correlation data to associate one gene with one phenotype, ignoring complex interactions between genes. At it highest, this provides an incomplete or imprecise understanding of an individual’s genetics. We now know many gene functions work upstream, downstream and with co-factors to interact with each other, implying that genetic system networks give rise to complex and multifactorial diseases, including hearing and balance disorders.

Otogenex uses bioinformatics technologies and data processing to provide hearing and balance clinicians with actionable and unique genetic reports using a patient’s raw genetic data. The Otogenex platform was built to help hearing and balance professionals utilise millions of biodata points to report and assist with patient-centered, personalised treatment plans. We aim to help practitioners identify patient-specific root mechanisms of hearing and balance disorders by identifying genetic variants with the highest potential to cause negative impact. By reducing the time to identify these unique mechanisms and interactions, our reports will reduce overall patient costs, improve patient engagement and empower hearing and balance professionals with a proactive personalised plan that promotes optimal outcomes.

Our team constantly updates our databases to provide cutting edge insights into gene/variant associations with related pathways, cellular and molecular functions, lab biomarkers and interactions with pharmaceuticals and antigen interactions. Once we receive the patient’s raw data, we utilise the massive clinical power of Next Generation Sequencing (NGS) technology to extract the unique genetic information. When the lab processing is complete, the report is sent to the clinician. We do not release the reports direct to patients.

We look for:

  • Genetic variants found by Enhanced Human Whole-Exome Sequencing (WES)
  • Mitochondrial Whole-Genome Sequencing (mtWGS)
  • Genotyping data and SNPs curated specifically for hearing and balance practitioners
  • HLA Subtypes (Human Leukocyte Antigens)
  • KIR Subtypes (Killer-cell Immunoglobulin-like Receptors)
  • RCCX gene module information

Otogenex do not simply analyse common SNP variants or use non clinical grade data. Our testing sequences exons and canonical splice sites (+/1,2) of the whole exome with extra coverage on genes and intron locations associated with hearing and balance disorders. We are constantly developing protocols to target and extract variants and genetic features in exon regions, intron regions of interest, splice sites, and untranslated gene regions of interest with 50x depth of coverage for target regions, 500x depth of coverage for mitochondrial regions and aim for specificity >98% and sensitivity >94% using FASTQ, .BAM, or .VCF files supplied from our accredited laboratories. HLA, KIR, and RCCX analysis requires genetic raw data from FASTQ file types and cannot be generated from BAM or VCF files.

Genetic Sequencing Data Basics

TXT – TXT files usually contain the actual variants found, but they are usually from genotyping instead of sequencing. These TXT files also contain variant calls and non-variant calls used for genotyping and common SNP information. These are techniques used by ancestry genetic testing companies and are not considered diagnostic and clinical grade.

VCF – A .VCF file is the list of genetic variants that differ from a reference human genome rather than raw genetic sequencing files (.BAM, .SAM, .FASTQ) and because of their smaller size, are easier to work with. Our genetic sequencing labs provide a VCF data file and we can take certain BAM files but it requires manual work on our part so incurs extra fees. Some labs will provide only a BAM file, other than .VCF which incurs an extra processing fee.

FASTQ – FASTQ files are usually direct from the sequencing machine. They contain raw genetic reads which must be aligned to a reference genome before processing. These files generally come in pairs of 2, “paired FASTQ files”. When FASTQ files are aligned to a reference genome, it produces a .BAM file. BAM BAM files are made from the process of aligning a FASTQ file to a reference genome. These files are generally several gigabytes and contain raw genetic data organised in a way and only understood by specialised software. One more processing step groups the raw data and removes redundancies to output a .VCF file.

Safety and Confidentiality:

We understand the sensitive nature of genetic information. That’s why our medical grade sequencing is not only about precision but also about safeguarding your data. Our state-of-the-art facilities ensure that each DNA sample is processed with the utmost care and confidentiality.

Consistent Evolution:

The world of genetics is ever-evolving, and so are we. Our commitment to medical grade resolution means that we are constantly updating our technologies and methodologies to stay at the forefront of genomic medicine.

Experience the Otogenex Difference:

With medical grade resolution, you’re not just getting a DNA test; you’re accessing a world of precision, clarity, and potential. Dive deep into your genetic blueprint, uncover hidden insights, and embark on a journey of personalised medical care.

Discover the power of precision with OtoGenie’s medical grade resolution, where every genetic detail is illuminated with unmatched clarity.

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