Diagnostic gene panels (NGS)

Diagnostic gene panels (Next generation sequencing, NGS)

  • Long-standing experience: We have over 6 years of experience in diagnostics using next generation sequencing and 15 years in single-gene diagnostics
  • Versatile offer: We have established a wide-range of gene panels for diagnostics and we are continusly updating our profile. We mainly use two technologies, Illumina and Ion Torrent for our NGS analysis.
  • Elaborate reports: We prepare elaborate reports in which we discuss all the relevant DNA-changes identified and interpreted them in regards to the clinical diagnosis. If you have questions regarding the report, you can contact our team of professional scientists and medical doctors for questions (+49-(0)761-896454-0).
  • Short processing times: We don't want to let your patient and you wait longer than necessary. Therefore, we aim to complete our analysis within 4-12 weeks. You can contact us to ask about the state of your analysis any time: +49-(0)761-896454-0.
  • Validation of DNA changes: All identified, significant DNA-changes (VUS3 - 5) are validated with a second, independant method.
  • Family testing: We do offer testing of family members and relatives for all the identified pathogenic mutations (categories VUS4 and 5) and, if applicable, also perform prental testing.

  • Samples: We prefer EDTA-blood (5-10 ml). The sample(s) can be send at room temperature as long as delivery time does not exceed 4-5 days. Please, make sure the sample is in a leak proof package. We also accept other materials such as DNA, oral muccosa, amniotic fluids and tissue. More details can be found in the section Qualitätssicherung (only available in german at the moment). For all prenatal cases, we ask to contact us beforehand.

  • Forms: According to the german law, we require an informed consent as well as a written request (requisition form) for genetic testing. We ususally also accept informed consent forms from other countries. Please, contact us if there are any questions whether the documents you have are sufficient. Please note, that according to the german law, a genetic test can only be requested by medical doctors or human geneticists.

  • Billing: Panel and exome diagnostics are currently not covered by the german social health insurance. Therefore, we strongly advise you to discuss the possible cost takeover with your health insurance agency (for social and private insurance). We are happy to provide a cost estimate for the analysis.

  • We offer gene panels for the following disease groups

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    Diagnostic offer: gene panels     Requisition forms complete: Diagnostic gene panel

    Questions about diagnostic gene panels? Contact us:

    Dr. phil. nat. Martin Brauner
    Tel: +49- (0)761-896454-6
    mbrauner@humangenetik-freiburg.de
    Dr. sc. nat. Britta Hartmann
    Tel: +49- (0)761-896454-6
    bhartmann@humangenetik-freiburg.de