Pathology

The right spot

 

Genetic Testing & Diagnostics

We specialize in identifying the genetic cause of heritable diseases

Find the underlying cause of heritable diseases with our diagnostic tests

Our Disease panels determine the underlying genetic cause when clinical features point towards a group of disorders. You can choose to investigate any number of genes, from only a handful up to hundreds of disease-related genes.

The Focused Inherited Disease Scan analyzes 2,742 genes that are causative for over 7,000 known inherited diseases. You can request the whole panel or generate a custom design, selecting only the genes that you are interested in.

When the clinical image does not lead to a certain disease, our Clinical Exome test can provide an unbiased and complete interrogation of the patient’s genomic DNA.

In case of urgency, we can provide Clinical Exome Priority, a report with the full exome data and interpretation by our clinical laboratory specialists within 12-14 days.

Our clinical specialists continuously adjust the gene panels to include the latest scientific publications in relation to genetic diseases. Contact us to obtain the highest possible diagnostic yield for your patient.