Methods & Services

We provide different DNA sequencing options to choose from. Our Sequence Analysis uses a proprietary targeted sequencing method, OS-Seq™, developed at Stanford University, to detect SNPs and small INDELs in the patient’s DNA. Alternatively, targeted Del/Dup (CNV) Analysis uncovers larger changes in the DNA. Both of these sequencing methods can be combined in our Plus Products. We also provide Whole Genome Del/Dup (CNV) Analysis to screen larger changes throughout the genome. We offer Whole Exome Sequencing 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 is based on a proprietary targeted sequencing method OS-Seq™ and offers panels targeted for genes associated with certain phenotypes. It is a standard way to analyze NGS data for finding the genetic cause for Mendelian disorders.

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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 Genome Del/Dup (CNV)

Whole Genome Sequencing CNV is considered the best first line genetic diagnostic product for patients with clinical suspicion of large chromosomal abnormalities or microdeletion/microduplication syndromes.

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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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Express Service

We offer an option for express service for clinical cases where genetic information is needed faster than within our normal turnaround time of 21 days. Express results are available in 10 days.

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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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