Katherina Dr. Ponnath

Genetic counseling and interpretation of results for pediatric, oncological, internal medicine, reproductive medicine, and neurological questions. Expertise in cytogenetic and molecular genetic analysis. Involved from the beginning in the nationwide genome project (§64e SGB V) with responsibility for patient recruitment, evaluation, and clinical interpretation of genomic data.

For teaching in human genetics, with regular seminars and interdisciplinary lectures for medical students. Active participation in quality management with a focus on the DAkkS accreditation of the human genetics laboratory. Passionate about precise diagnostics, scientific excellence, and patient-centered genetics.

Collaboration in molecular genetic diagnostics with a focus on NGS analyses and interpretation of results. Additionally, involvement in cytogenetic analyses and their clinical classification. Conducting genetic counseling on various human genetics issues. Participation in the evaluation of genetic test results in a clinical context and in interdisciplinary case discussions. Insight into quality standards and diagnostic workflows of an international diagnostics company.

Comprehensive work in molecular genetic diagnostics and patient counseling. Conducting genetic counseling for pediatric, internal medicine, and oncological issues, as well as other areas of human genetics. Interpretation of molecular and cytogenetic findings in close collaboration with the laboratory. Work in the cytogenetics laboratory with a focus on chromosome analysis and result reporting. Contribution to the creation of patient information and informational/image films for patients and referring physicians.