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Exome Sequencing

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MGZ 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 may be the next option of choice.

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.

A 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

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

Clinical Exome

The Clinical Exome, which is 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 complete exome or even of the genome. In addition to lower costs and shorter turnaround time, 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.

 

Product Name Product Code
Clinical Exome Single P112.03A
Clinical Exome Trio - (Offline Ordering Only) P112.03B

Whole Exome

MGZ provides whole exome diagnostics 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 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 is the next level in gene panel sequencing offered by MGZ. Clinical exome sequencing yields > 98 % coverage with at least 20-fold depth of the 3,963 disease-associated genes, with a mean read depth of 175-fold, making it a comprehensive high-throughput sequencing test suitable for clinical diagnostics.

The Clinical Exome and Whole Exome gene panels are of the quality Type C, according to the rating scheme recommended 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.

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.