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GTR Home > Tests > CHARGE syndrome

Performance Characteristics



  • Entire test performed in-house

Analytical Validity


For Proficiency Testing, both external and internal, during years of our lab operation, we have Sanger-sequenced hundred thousands of PCR fragments, and the error rate is less than 0.01% (99.99% accuracy). We had performed MLPA on hundred thousand samples, and NGS and qPCR methods (used for increasing number of genes and panels) with the maximal possible technical accuracy (>99,8%). Centogene´s technical specificity for methods in use is > 99,9% and technical sensitivity > 99,8%. Mutation detection reproducibility for Sanger sequencing and qPCR is 100%.


Not provided

Proficiency Testing (PT)

Is proficiency testing performed for this test? Help
PT Description
Proficiency testing (also known as comparative testing) is an important way of meeting the requirements of standards in the area of quality assurance of laboratory results. Proficiency testing involves laboratories performing the same analyses on the same samples and comparing results. Centogene has two main and several related laboratories that are engaged in the proficiency testing related to this particular gene test. Centogene has several laboratories where proficiency testing takes place: laboratories in Rostock (Germany) and Freiburg (Prof. J. Kohlhase, Laboratory for human genetics, Freiburg, Germany) as well as the laboratories in Lübeck (Prof. C. Klein, Section for Neurogenetics, Lübeck, Germany) and Prof. P. Bauer, Medical Genetics, Tübingen, Germany. Each participating laboratory is confidentially provided with a report to allow them to compare their performance with the other participants. The performance of individual laboratories is only known by that particular laboratory and a limited number of management personnel. The handling of results is generally performed in a manner that compares each individual result with the consensus of the entire group. Statistical handling of results is done by statistical specialist in every participating laboratory, and out of those results we make conclusions and draw new plans for the improvement of existing, and development of new genetic tests.

FDA Regulatory Clearances of the Test


Not provided

Practice guidelines

  • ACMG, 2013
    Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
  • EuroGentest, 2011
    Clinical utility gene card for: CHARGE syndrome.

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