Gene Calculator, see below, is a tool that will help you check which genes are eligible for testing.
Currently, using the OpenFrame™ platform it is possible to test: 15,189 genes (81% of all known human genes).
Please list thenames of the gene(s)usingthe HGNC standard (same as used in the form below) on a referral form.
A single test allows identification of changes in coding sequences of 1 to 5 among 15189 genes. A coding region of each gene will be read not less than 200x in both directions guaranteeingthe highest reliability of theresult in comparison withother techniques.
The depth of sequencing guaranteed in the test allows to detect germinal variants. The test has not been validated for the detection of somatic variants. Not all genome regions can be sequenced effectively. In cases where the indicated area coverage cannot be obtained with the use of NGS sequencing, the laboratory will try to supplement the missing fragments using the Sanger technique. The range of the tested sequence will be provided in the test result. Sequencing is not effective or the reliability of the result of sequencing may be low in the following situations (this is not the exhaustive list): changes in the mitochondrial genome, pseudogenes and other sequences homologous for the tested region, repeated sequences, dynamic mutations, large rearrangements, copy-number variations (CNV), fusion genes, uniparental disomy, epigenetic changes, mosaicism. It is recommend to consultation the scope of sequencing with a geneticist.