What types of diagnostic tests do we offer?

For DNA diagnosis, we apply the technology of next generation sequencing enabling identification of pathogenic changes in a short time and within a single analysis

 

Diagnostics tests
MiniExome test
ExomeSeq test
Whole genome scan of CNV - GenoScan NGS

 

1. MiniExome test

A universal multigene DNA test for hereditary diseases comprising analysis of coding areas of 4800 genes in a single test, including bioinformatic analysis and interpretation by an expert based on medical history. The test takes advantage of next generation sequencing on the Illumina platform. The results are typically available within one month although it is possible that considering the sophisticated requirements for technology and expertise, the analysis may take up to two months.

Price: 1 700 €*

Availability of results: 1 month

*One-time express surcharge (results within 10 working days) for the analysis: 1 200 €.

 

2. ExomeSeq test

Universal multigene DNA test for hereditary diseases comprising analysis of coding areas of all known protein-coding genes (19 000+) in a single test, including bioinformatic analysis and interpretation by an expert based on medical history. The test takes advantage of next generation sequencing on the Illumina platform. The results are typically available within one month although it is possible that considering the sophisticated requirements for technology and expertise, the analysis may take up to two months.

Price: 2 500 €*

Availability of results: 1 month

 

3. Whole genome scan of CNV – GenoScan NGS

This test is based on whole genome analysis and focuses on identification of chromosomal and large chromosomal disorders (1 Mb min.) From the technology perspective, this test is run on next generation sequencing platform, not microarray, which comes with several advantages (a simpler procedure, greater robustness, higher speed, and sensitivity). The analysis and interpretation take 2 weeks.

Price: 475 €*

Availability of results: 2 weeks

* One-time express surcharge (results within 5 working days) for the analysis: 300 €.

 

What is the testing procedure like?

For all types of test, we need a fresh sample of blood collected into EDTA tubes (we recommend using vacuum-based collection system by Vacutainer from BD). Collection of blood sample is performed by our contractual partner.