{"id":681,"date":"2020-09-11T14:24:02","date_gmt":"2020-09-11T11:24:02","guid":{"rendered":"https:\/\/f-genetics.com\/?post_type=test&p=681"},"modified":"2026-01-16T13:19:57","modified_gmt":"2026-01-16T10:19:57","slug":"genome","status":"publish","type":"test","link":"https:\/\/f-genetics.com\/en\/genome\/","title":{"rendered":"Genome sequencing"},"content":{"rendered":"

What is whole genome sequencing?<\/h2>
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Genome<\/div>
Indications<\/div>
Advantages<\/div><\/div><\/div>
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Whole genome sequencing (WGS) is an analysis of a person's entire DNA sequence, including both protein-coding regions (exome)<\/strong> and non-coding 'silent' regions of the genome.<\/strong>. Whole genome sequencing provides as much information as possible about known or previously undetected genetic alterations that may have caused the development of a disease.<\/p>\n\n\n\n

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Today, millions of patients with genetic diseases suffer from an unspecified diagnosis. Although in some cases, approaches such as single gene or gene panel testing can identify the cause of disease, the percentage of detectable genetic changes using this approach is rather limited. <\/p>\n<\/div>\n\n\n\n

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The analysis of mutations in coding regions of the genome (whole exome sequencing) accounts for only 1-2% of all DNA. <\/p>\n\n\n\n

According to the current literature, the analysis of non-coding DNA sequence variants can provide important information in the diagnosis of genetic diseases.<\/p>\n<\/div>\n<\/div>\n\n\n\n

WGS is a comprehensive overview of a patient's genetic data <\/p>\n\n\n\n

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Although much more genetic variation can be identified by whole genome sequencing than by single gene or exome sequencing, the significance of the majority of this information is unknown. <\/p>\n<\/div>\n\n\n\n

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Since not all genetic changes affect health, it is not always possible to determine whether the variants identified are the cause of the condition in question.<\/p>\n<\/div>\n\n\n\n

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Sometimes an identified variant is linked to another genetic disorder that has not yet been diagnosed (these are called incidental or secondary findings).<\/p>\n<\/div>\n<\/div>\n\n\n\n

Learn more about bioinformatics data analysis<\/a><\/p>\n<\/div>\n\n\n\n

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Indications for whole genome sequencing<\/h2>\n\n\n\n
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  1. Suspicion of a hereditary disease when other molecular diagnostic methods prove uninformative.<\/li>\n\n\n\n
  2. For patients with \"mixed\" clinical manifestations or with suspected dual diagnosis.<\/li>\n\n\n\n
  3. Suspicion of mitochondrial disease.<\/li>\n\n\n\n
  4. Search for variants in non-coding regions of the genome.<\/li>\n<\/ol>\n\n\n\n

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    The advantages of whole genome sequencing at First Genetics<\/h2>\n\n\n\n
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    In-house laboratory located in a certified, high-purity facility<\/div><\/div><\/div>\n\n\n\n
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    Specialists with many years of experience in genetics, laboratory diagnostics and bioinformatics<\/div><\/div><\/div>\n\n\n\n
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    Free delivery of biomaterial across Russia<\/div><\/div><\/div>\n\n\n\n
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    Time frame for the test — up to 55 calendar days<\/div><\/div><\/div>\n\n\n\n
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    Commitment to the quality and clinical relevance of the work<\/div><\/div><\/div>\n\n\n\n
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    \u0414\u043e\u0441\u0442\u0443\u043f\u043d\u0430\u044f \u0446\u0435\u043d\u0430 \u2014 94 000 \u0440\u0443\u0431<\/div><\/div><\/div>\n\n\n\n
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    The diagnostic efficiency of genome sequencing is 10% greater compared to exome sequencing<\/div><\/div><\/div>\n<\/dl>\n<\/div>\n<\/div><\/div>\n<\/div><\/section><\/div>\t
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    \"\"Informed consent 247 KB, PDF<\/i><\/span><\/a><\/div>\n\t\t\t\n\t\t\t\t\t\t\t\t\t\t
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