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Clinical Diagnostics package

Clinical Diagnostics package

What it includes:

  • Analysis by Medical Clinical-Grade Whole Genome Sequencing (WGS, 20.000+ genes)
  • Clinical Diagnostics Report
  • Raw data (BAM, FASTQ, VCF files)
  • 1 Free update on current and newly discovered genetic associations
  • Free logistics for sample collection
  • Non-invasive sample kit (blood/saliva)
  • White Labelling 

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Package Description

Personalised Clinical Diagnostics report is particularly useful for individuals who are experiencing symptoms, but do not have a clear medical history that would help clinicians confirm diagnosis of genetic disorders and act accordingly.

The report provides a detailed analysis of the patient's genetic variants, which have been identified through analysing the whole genome (20,000+ genes). Even though WGS will provide data corresponding to all genes, the analysis will be specific to the personal clinical history/family history of the patient.

The report identifies pathogenic or likely pathogenic genetic variants that are associated with specific diseases or conditions. These variants are classified according to the guidelines set forth by the American College of Medical Genetics and Genomics (ACMG).

We also provide more in-depth clinical interpretation of the genetic variants, and the report may also include recommendations for further testing or referrals to specialists, based on the specific genetic variants identified.

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Pharmacogenetics Panel

This Panel provides personalised information about how the body processes medications. This analysis can help identify which medications may be more effective or cause adverse reactions, allowing healthcare providers to make more informed treatment decisions.

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In addition to Clinical Diagnostic Package we also offer optional panels that can be included in your package to provide even more personalized information about an individual’s health.

Our panels cover the following clinical areas:

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Avanti - Our Software

Avanti is a web-based app designed to transform NGS raw data into insightful, clear and personalized panels in a few minutes. More than 90 panels generated.

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