Global research efforts are ungoing to finding new biomarkers in order to better understand the genetic basis of inherited diseases. For roughly 4,000 disorders, a clear genetic defect has been identified. This knowledge is combined in our Inherited Disease Scan that simultaneously analyzes the 2,742 genes that are directly implicated in these inherited disorders.
There are currently over 7,000 known rare inherited diseases. Though not frequently occurring, collectively they affect ~8% of the general population. The syndromic nature, highly variable penetrance and expressivity of these disorders make disease classification and candidate gene identification challenging. The Inherited Disease Scan has a great advantage over traditional techniques that test only one or a few genes for each rare disease separately.
By measuring all 2,742 gene regions in one test, you can quickly determine the causative gene or rule out many disorders characterized by similar symptoms. The Inherited Disease Scan can save precious time and costs. Provide your patient with an accurate diagnosis within 5 to 6 weeks.
- Highly targeted panel of over 2,700 regions implicated in inherited disease pathogenesis
- Specifically including the causative genes for rare diseases
- Deep and even coverage of all target genes compared to exome sequencing
- Choose between receiving the FastQ files (Package: ‘Data’), the VCF files (‘+ Analysis’) or a comprehensive report of the findings (‘+Diagnosis’)
- Data-interpretation by an experienced team of Clinical Laboratory Specialists
- Full report including interpretation in 5 to 6 weeks
We provide ordering physicians with a comprehensive report letter. Clinical laboratory geneticists interpret the data using the most up to date scientific information and literature.
Screening of patients
Many (academic) partners request the Inherited Disease Scan for large numbers of patients. The data can be generated rapidly and transferred to your institute as raw data. Extensive data-control is included to ensure that the data-quality is according to our high standards as set by ISO 17025 regulations. You can request the Focused Inherited Disease Scan and filter each data-set based on your genes of interest.
Robust & High coverage
The hybridization probes of the Focused Inherited Disease Scan are developed in collaboration with researchers from Medical Genetics, Charite Berlin. All probes are reviewed extensively, resulting in a robust test with high coverage throughout the panel. We can guarantee profiling variants in at least 93% of the targeted genes with a minimal coverage of 30x.
Exome Diagnostics: for interpretation of even more genes
When your clinical question needs interpretation of the total exome, we offer Exome Diagnostics to interrogate all ~20,000 protein-coding genes.