OIDIP (Open Interdisciplinary DIagnostic Panel for Prague) should offer routine differential diagnostic tool for selected pathologies based on DNA analysis. Diagnostic panel contains genes that are being analyzed in our specialized DNA laboratory on every-day basis or which have been studied in several research projects. We aim to include also other genes of interest of medical experts from Prague health care centers.
Criteria - indication by clinical genetic counselor; filled-in formular with diagnosis indication
Price - charged/covered by health insurance - code 94982 (NGS panel with 20 and less genes, 27.500,-Kč)
Medical Areas:
nefrology
endokrinology
lipidology
neurology (hemiplagic migranes)
Indicated patients will be analyzed only selected number of genes associated with diagnosis under suspetion (dedicated by Genetic Counsellor). Only those genes will be refered on laboratory report.
Why open?
Panel is open for possible inclusion of other genes of interest suggested by medical doctors. Their specific needs will form its final gene composition. We see great benefit for those experts that previously could not find instrument that would reflect their needs. This could be their first chance to have a direct impact in access to specific genetic analysis.
Panel composition is also open. Panel is designed as an open box. It will allow the users to diminish genes of no interest and enrich the pool with genes of great interest. The rapid increase of knowledge of human genetic diseases should be quickly reflected in the composition of the panel.
Do you have an idea which gene/disease/pathology we should include? Do not hesitate to contact us by email or by this formular!
Why interdisciplinary?
Gene panel will cover broad spectrum of human diseases/pathologies. DNA data as the output of NGS analysis will be executed by bioinformatics pipelines restricted to genome area of interest according to indicated diagnosis. Thus only genes that relate to the diagnosis will be reported. It will allow us to consequently reanalyze DNA data in case of new indication by the medical specialist without the need to perform new blood withdrawal and expensive NGS procedure. It will be solely done by new bioinformatics restricted to different area.
Why diagnostic?
The Gene Panel should fulfill the needs of differential diagnostics. In case of ambiguous phenotype it will provide a tool offering analysis of all the genes associated with such clinical appearance. Among certain phenotypes the genetic compound is rather heterogenous and thus clinical exom is preferred. This tool is capable of capturing broad spectrum of DNA mutations; from single nucleotide variants (SNV), insertion/deletions to variants of copy number of certain genome parts (CNV).
Why for Prague?
We would like to offer a tool that reflects the real needs of the providers of health care in centers what are run by the town City Hall administration or by local administration of Prague districts.