Targeted Enrichment Panel for Inherited Diseases

G-Mendeliome Clinical Exome Sequencing Panel

The G-Mendeliome Clinical Exome Panel includes both clinically significant genes and additional genes. This provides comprehensive information of mutation in genes of interest. 7000 genes are clinically significant. Find all genes in the brochure.

G-Mendeliome Disease-Specific Panel

This panel is designed to analyse genes in various inherited diseases, such as cardiology, neurology, and various cancers. The panel is developed together with clinical laboratories. With the gene add-on service, the panel can be expanded with genes of interest.

Identifying diseases associated with: AML, ALL, Multiple Myeloma, Lymphoma, Hearing loss, Hereditary cancer syndrome, Arrhythmia, Cardiomyopathy, Muscular dystrophy, Charcot-Marie-Tooth, Spastic paraplegia, Myopathy, Ataxia, Epilepsy, Parkinson, Alzheimer, Dementia, and Dystonia.

View the brochure to see the different genes per panel.

PharmacoScreen Panel

With the PharmacoScreen panel, the genes associated with prescribed drugs of the corresponding genes can be determined. For this we offer 3 panels: Standard, Epilepsy and Anti-Tuberculosis. Target over 120 genes associated with Pharmacokinetics and Pharmacodynamics. Download the brochure below for the overview.

Standard

The PharmacoScreen Panel Standard is ideal for organ transplant-related genes, through assessment of drug metabolism, transporters and Parkinson's disease related genes.

Epilepsy

Identifying diseases associated with: AML, ALL, Multiple Myeloma, Lymphoma, Hearing loss, Hereditary cancer syndrome, Arrhythmia, Cardiomyopathy, Muscular dystrophy, Charcot-Marie-Tooth, Spastic paraplegia, Myopathy, Ataxia, Epilepsy, Parkinson, Alzheimer, Dementia, and Dystonia.

Anti-Tuberculosis

The main target of the PharmacoScreen Anti-tuberculosis panel is the genes associated with a drug-induced liver injury which is an important factor for drug development as well as precise drug prescription.

Mitochondrial DNA Sequencing Panel

The capture probes and concentration of the panel is adjusted to provide complete and consistent coverage of the whole mtDNA genome, with consideration of small target regions. The same high level of target capture efficiency is obtained, regardless of the small target sizes.

This panel can be used, in addition to the G-Mendeliome panel, for further mtDNA derived rare disease analysis.

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