Genome sequencing

Whole Genome Sequencing (WGS)

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Across Georgia

Up to 55 working days

Test duration

Raw data provided

Free of charge, format is .fastq

One time in your life

You can use the data for analysis when it`s necessary in the future

Genome sequencing overview

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Whole genome sequencing (WGS) is the study of the entire sequence of human DNA, including both protein-coding regions (exomes) and non-coding «silent» regions of the genome. WGS renders the most complete information about known or previously unknown genetic changes accociated with disease development.

Today, millions of patients with genetic diseases suffer from an unspecified diagnosis. Although in some cases, approaches such as testing a single gene or gene panels are able to identify the cause of the disease, however, the percentage of detected genetic changes when using this approach is quite limited.

Detection of mutations in the coding regions of the genome (WES) allows assessing only 1-2% of the entire DNA.

In accordance with novel literature data, the study of non-coding variants of the DNA sequence can provide important information in the diagnosis of genetic diseases.

WGS — Comprehensive review of the patient’s genetic information

Though much more genetic changes can be identified by WGS than by sequencing single genes or WES, the relevance of most of this information is unknown.

As not all genetic changes affect health condition, it is not always possible to conclude whether the identified variants are the cause of suspected disease.

A detected variant is sometimes associated with another genetic disease that has not yet been diagnosed (it is called incidental or secondary findings).

Indications for WGS

Hereditary disease suspicion when other molecular diagnostic methods turn out to be uninformative.
Patients with «mixed» clinical manifestations or with a suspected dual diagnosis.
Suspected mitochondrial disease.
Searching of variants in non-coding regions of the genome.