The medical report contains the results from the genetic testing, as requested by the referring physician. The composition of the report and example medical findings contained within it are listed on this page.
1 Patient Information
In the header, we display summarized patient information that has been communicated to by the referring physician:
Name, date of birth, sex of the patient, and external ID where applicable
Suspected diagnosis or indication for molecular genetic testing
Our internally assigned patient ID
On the first page of our report, we summarize the identified genetic changes, 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, in silico prediction, and our classification.
Just below the table, we provide details to aid in the interpretation of the information in the table.
In this paragraph, we summarize the current state of scientific literature for the variants found and discuss them in relation to the patient. The more clinical information that is provided by the referring physician, the more accurate and precise our evaluation can be. This is of particular importance with findings from panel or exome sequencing, as variants may be identified which do not yet have a clear clinical association.
We then explain in a concluding summary sentence the strength of the evidence and associations with the clinical features of the patient.
4 Variants of Unknown Significance
In some cases, the second table may also be employed to indicate further variants which may have an unclear association with the indicated disease. Variants will be placed in one of the two tables based upon, but not limited to; published data, frequency in the normal population, and pathogenicity predictions given by several pathogenicity prediction algorithms. These data are used to make an assessment on the role of the gene in disease, and the potential changes to the function of the expressed protein.
5 Genetic Relevance
In this section, we explain the inheritance patterns; the possibility of other similarly affected family members, the risk of disease recurrence in the family, and the extent to which other family members may be unaffected carriers.
To address any remaining ambiguities regarding the causality of the variant, this section has space for additional recommendations. This could be further clinical investigations which may indicate the pathogenicity of the identified variants, or further molecular genetic tests for both affected and unaffected family members (e.g., segregation analysis).
7 Additional Information
At the end of the report, we present technical information. This includes information such as technology used and bioinformatic parameters.