The test results are described and explained in a medical report delivered to the referring physician. Multiple scientific experts contributes to every medical report – generating the best possible results.
CeGaT’s interdisciplinary team of PhDs uses the most recent literature for data interpretation. Complex constellations are discussed with bioinformaticians. The final report is revised by medical doctors and geneticists to maximize medical usability.
Structure of the Medical Report
Patient information
In the header, we summarize patient information:
- name, sex, external ID
- sample source and date of receipt
- CeGaT specified ID
- suspected diagnosis or indication for molecular genetic testing
- requested test
The patient information can be found at the top of the first page.
Results
This part summarizes the identified genetic changes according to ACMG guidelines, tabulated and sorted by their disease relevance. You will find a table that addresses the most likely causative variant(s) and provides information on zygosity, inheritance, allele frequency in the population, and our classification. We also report likely pathogenic variants and variants of uncertain significance (VUS) potentially causative for the patient’s phenotype. CNV findings and the quality of the CNV analysis are explicitly described.
The results can be found on the first page.
Recommendation
Clinical recommendations for the referring physician are given. These are, for example, additional diagnostic options for the patient (in case of a negative report), potential therapeutic approaches based on the pathogenic genetic variant(s) of the patient, or further molecular genetic tests for both affected and unaffected family members (e.g., segregation analysis).
The recommendation can be found on the first page.
Genetic relevance
We explain the inheritance pattern of the patient’s disease; the risk of disease recurrence in the family, and the extent to which other family members may be unaffected carriers.
The genetic relevance can be found at the bottom of the first page.
Clinical information and variant interpretation
The detected variant(s) are described from a molecular genetic and clinical perspective. In particular, the disease(s) associated with the gene alteration will be addressed. In addition, the ACMG/ACGS criteria used for the variant(s) are clearly presented in a table. The variant classification is visualized using an ACMG/ACGS classification scale.
The clinical information can be found on the second page.
Additional Information
We present detailed technical information on the methods used.
The additional information can be found on the third page.
Sample Report
This is the sample report for the panel Epilepsy & Brain Development Disorders.
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