Methods & Services

We provide different DNA sequencing options to choose from. Our Sequence Analysis uses targeted next generation sequencing (NGS) to detect single-nucleotide variants (SNVs) and small insertions and deletion (INDELs) in the patient’s DNA. Alternatively, targeted Del/Dup (CNV) Analysis uncovers larger changes in the DNA. Both of these analyses can be combined in our Plus Products. We offer also Whole Exome Sequencing (WES) as an efficient and comprehensive test where all protein-coding genes of the genome are sequenced to provide diagnoses in genetic disorders across various medical specialties.

Sequence Analysis

Our Sequence Analysis Panels are targeted for genes associated with certain phenotypes but they have unique design to cover large number of disease causing non-coding variants in addition to standard analysis of exonic and splice site SNVs and small INDELs. In this way, our analysis resembles whole genome sequencing by improving the diagnostic utility with lower test related costs.

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Targeted Del/Dup (CNV) Analysis

Targeted Del/Dup (CNV) analysis is used to detect bigger disease causing deletions or duplications from the disease-associated genes. A high-resolution CNV analysis for the same genes as are evaluated in our sequencing panels.

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Whole Exome Sequencing

Our high-quality Whole Exome Sequencing is an efficient and optimal genetic diagnostic technique for clinicians treating patients with complex phenotypes.

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Plus Analysis

Plus Analysis combines Sequence + Del/Dup (CNV) Analysis providing increased diagnostic yield in certain clinical conditions, where the underlying genetic defect may be detectable by either of the analysis methods.

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Family Member Testing

We provide efficient testing of the known disease-causing mutation to family members of the probands (index patients), to recognize those who are at risk to develop the disease.

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Customization of Panels

All our Diagnostic Panels can be customized by adding genes from the single gene list or by removing genes from the selected panel. The single gene list contains 2,526 high quality genes with ≥99.5% of base pairs (bp) covered at ≥20x.

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Clinical Genetics Support

We offer support to our customers in situations requiring specialized expertise in genetic diagnostics. These situations can concern e.g. selecting an optimal diagnostic tool for your patient, reading the clinical statement, or discussions on variant classification.

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Family Extension Service

Extend your patient’s diagnostic evaluation to cover familial mutation testing for up to 5 first degree family members!

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Last modified: 04.10.2018