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Gene Panel Sequencing

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Gene panel analyses enable cost-efficient and high-quality parallel analysis of anywhere from a small number of disease-related genes to several hundred within a short period of time using next-generation sequencing (NGS). In creating our gene panels, we have placed primary importance on organization by clinical phenotypes in order to obtain the highest possible diagnostic yield for each patient. Each panel analyzes both the most and least common disease-related genes with corresponding phenotypes as determined by the published literature. Additionally, copy number variation analysis at single exon resolution for selected genes is performed.

Tests Available

Phenotype-based Gene Panels

MGZ offers over 200 diagnostic gene panels in a number of different clinical disease areas (e.g. hereditary cancer syndromes, neuromuscular disorders, epilepsy, mitochondrial diseases, etc.). These gene panels provide clinicians with high quality diagnostics - both the technical analysis as well as the classification of variants and their interpretation in the individual medical context are guaranteed by our interdisciplinary medical team. 

Find out more about our phenotype-based NGS-diagnostics here.

From Phenotype-based Panel to DxOme®

In a clinical context, it is prudent to orient a diagnosis to a patient’s leading clinical signs and symptoms and select the corresponding phenotype-based gene panel. If this initial gene panel returns normal test results, additional disease-related genes (>1500) enriched in the technical NGS test process can be included in the data interpretation, “DxOme®”.

For unspecific or complex phenotypes that do not enable the selection of a distinct group of candidate genes in terms of a phenotype-based panel, a primary DxOme® analysis may be useful.

In postnatal cases, if this analysis fails to confirm a clinical diagnosis, it may make sense to pursue further NGS analyses with lower diagnostic quality within the framework of scientific research.

The DxOme® is now available as part of our new diagnostic process. Depending upon your patient's clinical presentation, you now have the following options:

Test Options Available

OPTION 1: Phenotype-based panel only (distinct phenotype, confirmation/exclusion of diagnosis)

OPTION 2: Phenotype-based panel + DxOme® (suspected diagnosis, but overlapping phenotypes)

OPTION 3: DxOme® (unspecific or complex phenotype)

Please refer to our Price Inquiries & Test Ordering Information below for more details. 

View Test Catalog

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

  • 3–6 weeks (Routine)
  • 10 business days (prenatal and urgent cases)

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 OPTION 1: Phenotype-based Panel Only (DxOme® Opt-Out)

       Offline orders:

  • Request a cost statement* using our convenient contact form.
  • Enter the name and number (ID XXX.XX) of the phenotype-based NGS panel + Without DxOme® in the test request form.
  • Submit all required documents with the sample.

       Online MGZ portal requests:

  • Enter the name and number (ID XXX.XX) of the phenotype-based NGS panel + Without DxOme® in the field ‘Individual Request’ and submit your price inquiry. You will receive price information via the portal with an online ordering option.
  • Enter the name and number (ID XXX.XX) of the phenotype-based NGS panel + Without DxOme® in the test request form.
  • Submit all required documents with the sample.

To request OPTION 2: Phenotype-based Panel + DxOme®

       Offline orders:

  • Request a cost statement* using our convenient contact form.
  • Enter the name and number (ID XXX.XX) of the phenotype-based NGS panel + DxOme® in the test request form.
  • Submit all required documents with the sample.

       Online MGZ portal requests:

  • Select a phenotype-based NGS panel from the test catalog and submit your price inquiry. You will receive price information via the portal with an online ordering option.
  • Enter the name and number (ID XXX.XX) of the phenotype-based NGS panel + DxOme® in the test request form.
  • Submit all required documents with the sample.

To request OPTION 3: DxOme®

       Offline orders:

  • Request a cost statement* using our convenient contact form.
  • Enter DxOme® and (ID 111.XX) in the test request form.
  • Submit all required documents with the sample.

       Online MGZ portal requests:

  • Select the DxOme® under Comprehensive Testing of the test catalog and submit your price inquiry. You will receive price information via the portal with an online ordering option.
  • Enter DxOme® and (ID 111.XX) in the test request form.
  • Submit all required documents with the sample.

*Cost statements are not required for institutions with price/contractual agreements.   

 

For detailed test ordering information:

Questions? Contact us.

Sample Reports

To view a sample report, click here.