Whole Exome Sequencing

Whole Exome Sequencing Test

We offer the 100X Trio Exome Analysis. For sample report, please click here.

Indication

Whole exome sequencing is the method of choice to detect the cause of disease in patients with complex, unspecific symptoms and undefined diagnoses, especially in rare autosomal-recessive disorders (consanguineous parents).

Benefit

The number of variants detected using Exome Diagnostics is very high (> 200,000 per exome). Detection rates for Trio Exome Diagnostics are approximately 37%. Outstanding  price/performance ratio considering the entire exome is screened and a large amount of information is gained. Turnaround times are reasonable.

Background

Exome analysis is based on next-generation sequencing (NGS), and is used to identify variants in single genes that cause rare genetic diseases. The sum of all coding regions in a genome is called the exome. In humans, this includes 23,000 genes with approximately 50 million bases. With Whole Exome Sequencing (WES), all exons (protein-coding regions) are analyzed. The genetic testing is therefore focused on the analysis of the 1-2% of the human genome where 85% of known pathogenic mutations are found.

Material

5 ml EDTA-blood from the patient and both parents (Trio Exome Diagnostics)

Method

High-throughput sequencing is carried out on the Illumina HiSeq platform.

Results

The detected variants are analyzed and evaluated by an experienced team of scientists and geneticists and summarized in a comprehensive medical report.

Preanalytics

Do not freeze.

Please note

Consent form required, previous reports and all available clinical information requested.

Turnaround time

4-6 weeks