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Exome Sequencing

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The MGZ - Medical Genetics Center provides exome sequencing as an addition to our phenotype-driven panel diagnostics. In cases where a phenotype-based gene panel and other molecular genetic testing have not resulted in a diagnosis, exome sequencing aims to end the diagnostic odyssey for many individuals with rare genetic disorders, ultimately yielding a higher chance of finding the cause of a heritable disease compared to panel sequence apporaches.

Indications

Exome analysis is recommended in cases of suspected hereditary diseases which cannot be clearly assigned to a genetic syndrome or even narrowed down to potential mutations based on clinical features. Exome sequencing has been demonstrated to be successful as a first-line testing strategy for conditions with a high degree of heterogeneity.

Analysis of the clinical exome involving the healthy parents of an affected patient (trio analysis) can, in particular, also be a good possibility to uncover a suspected de-novo mutation.

Tests Available

The MGZ offers the Clinical Exome and Whole Exome to supplement its extensive catalog of phenotype-based gene panels.

Clinical Exome

The Clinical Exome, which focuses on the analysis of the 2% of the human genome where most of  a more straightforward analysis in routine clinical genetic testing, currently includes simultaneous next-generation sequencing (NGS) analysis of 3,963 disease-relevant genes with an associated phenotype in OMIM1 and Orphanet2 which at the same time are known in RefSeq3 and UCSC4 (except mtDNA).

This disease-oriented analysis offers a number of advantages over the analysis of the whole exome or even of the whole exome or even of the whole genome. The clinical exome enables easier interpretation of data as well as significantly higher coverage of disease-relevant genes. This greatly increases the probability of detecting the genetic cause of a patient’s symptoms.

In comparison to a single Exome approach, the clinical exome enables easier interpretation of data as well as of significantly higher coverage of disease-relevant genes. This greatly increases the possibility of detecting the genetic cause of a patient's symptoms.

In comparison to a single exome approach, a trio analysis (inclusion of the parents) dramatically increases the diagnostic detection rate (Farwell, 2015; Sawyer, 2016; Eldomery, 2016, Eldomery, 2017). We, therefore recommend Trio Exome analysis, where this approach is feasible.

Product Name Product Code
Clinical Exome Single P112.07A
Clinical Exome Trio - (Offline Ordering Only) P112.07B

Whole Exome

The MGZ provides whole exome sequencing (WES). In addition to clinical exome analysis, whole exome sequencing encompasses enrichment and sequencing of all exons of the genome, which are the protein-coding genes (~ 20,000 genes), and is, currently, mainly performed in the research setting. WES results can be provided upon request. suited for patients, whose diagnosis could not be confirmed by clinical exome investigation.

In cases where a whole exome analysis has provided a negative result, the DxOme® may be a suitable follow-up analysis.

Product Name Product Code
Whole Exome Single P165.03A
Whole Exome Trio - (Offline Ordering Only) P165.03B

Click here for information about requesting pricing and ordering testing.

Method

Next-generation sequencing (NGS)

SAMPLE REQUIREMENTS

Accepted Sample Types

  • 2-4 mL EDTA blood
  • 3-10 μg DNA

View all sample requirements

Turnaround Time

  • 8-12 weeks

Test Performance/Technical Information

The Clinical Exome sequencing at the MGZ yields >98% coverage with at least 20-fold depth with a mean read depth of 175-fold, making it a comprehensive high-throughput sequencing test suitable for clinical diagnostics. Exome reports are a product of thorough interpretation of bioinformatic analysis in accordance with the most recent scientific data and take into account all available clinical information provided about a particular patient. The assessment of identified sequence variants made by scientists and medical specialists working in close cooperation.

The Clinical Exome and Whole Exome gene tests are of the quality Type C, according to the rating scheme by the current EuroGentest guidelines for diagnostic next-generation sequencing.

Limitations

For technical reasons, the detection of larger deletions and/or duplications, structural rearrangements, repeat expansions, pathogenic variants in homopolymer regions in paralogs/pseudogenes, and in untested regulatory regions, is not possible. Because Exome sequencing only covers the coding regions of the genome, any genetic changes residing outside of the targeted region will not be detected. Furthermore, not all coding regions are sufficiently covered and variants in regions of low coverage may not be reliably detected.

Price Inquiries & Test Ordering

To request price information:

  • Send your price request via MGZ's Inquiry/Order portal. (Clinical and Whole Exome Single only)
    • Clinical Exome Single
      • Select Clinical Exome Single from the Test Catalog and click Request Price.
    • Whole Exome Single
      • Select Whole Exome Single from the Test Catalog and click Request Price.

      OR

 

For detailed test ordering information:

Questions? Contact us.