Open Frame Sequencing™

How do I check which genes are eligible for testing?

Gene Calculator, see below, is a tool that will help you check which genes are eligible for testing.

1. Enter names of the genes in the fields below and click Check.
   The system will automatically check whether these genes are eligible for testing within the Open Frame™ platform.
2. While entering the names the system will prompt you with names of the genes starting with the already entered letter.
3. System will also display additional information about the enteredgenes.
   This may be helpful if you want to test areas that are smaller than whole genes.

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.

Limitations

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.