In creating our gene panels, our medical and scientific team 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
The MGZ - Medical Genetics Center offers over 300 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.
Gene panel are listed in our Test Catalog.
From Phenotype-based Panel to Exome
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, the data interpretation can be expanded to an exome.
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 Exome 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.
Method
- Next-generation Sequencing (NGS)
Sample Requirements
Accepted Sample Types
- 2-4 mL EDTA blood
- 3-10 µg DNA
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
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
- 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 or exome / trio-exome 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 or exome / trio-exome 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.
*Cost statements are not required for institutions with price/contractual agreements.
For detailed test ordering information:
- Please refer to the How To Order section of our website.
Questions? Contact us.
Sample Reports
To view a sample report, click here.