Panel Diagnostics Enables an Accurate Diagnosis
Our panel diagnostics assists you to secure a clinical diagnosis, make a prognostic assessment of the disease, and allow early therapeutic intervention. Furthermore, based on the findings of the index patient, targeted investigation of family members can be offered.
To maximize diagnostic yield, all diagnostic panels include a CNV analysis and are based on our unique CeGaT ExomeXtra®, which enriches not only coding but also all diagnostically-relevant intronic and intergenic variants.
Key Features
- Sequencing of CeGaT ExomeXtra®
- Analysis of single nucleotide variants (SNVs), small insertions and deletions (INDELs) and copy number variants (CNVs)
- Known pathogenic intronic variants and phenotype associated mtDNA hotspots included
- Full mtDNA analysis possible
- Chance of identification of mosaicisms
- Custom design: > 99 % of the target region covered 30x or more
- High average sequencing coverage: >100x (Illumina NovaSeq 6000)
- Medical report written by a team of experts incl.medical doctors specialized in human genetics
- Turn-around time: less than 4 weeks
Sample report
Blood Disorders
6 Gene sets – 225 Genes
Cardiac Diseases
13 Gene sets – 220 Genes
Ciliopathies
4 Gene sets – 111 Genes
Connective Tissue Diseases
2 Gene sets – 60 Genes
Epilepsy & Brain Development Disorders
18 Gene sets – 577 Genes
Eye Diseases
27 Gene sets – 444 Genes
Fertility
13 Gene sets – 203 Genes
Hearing Loss
2 Gene sets – 189 Genes
Immune Disorders
24 Gene sets – 339 Genes
Kidney Diseases
21 Gene sets – 299 Genes
Liver Diseases
3 Gene sets – 47 Genes
Metabolic Diseases incl. Mitochondriopathies
22 Gene sets – 543 Genes
Neurodegenerative Diseases
21 Gene sets – 393 Genes
Neuromuscular Diseases
11 Gene sets – 378 Genes
Skeletal Disorders
18 Gene sets – 352 Genes
Skin Diseases
14 Gene sets – 266 Genes
Tumor Syndromes
21 Gene sets – 127 Genes
Custom Panel
If your clinical question is not covered by our listed panel, we offer individual panels based on a exome enrichment. To request please use our order form “Exome & Custom Panel“.
CeGaT ExomeXtra® Sequencing and Large Panel Approach
Identifying the genetic cause of the patient’s disease is the ultimate goal of our diagnostic panels. For many diseases, the number of potentially disease-causing genes is very large. To enable efficient diagnostics for these diseases, our diagnostic panels are evaluated based on CeGaT ExomeXtra®. Sequencing with CeGaT ExomeXtra® covers all clinically relevant regions throughout the genome and considers factors that are often overlooked in regular genetic testing. By covering all known pathogenic intronic and intergenic variants in addition to all protein-coding regions, CeGaT ExomeXtra® provides an unmatched basis for the best genetic diagnostics.
We offer to expand the analysis to the complete diagnostic panel for pathogenic (ACMG class 5) and likely pathogenic (ACMG class 4) variants of the large panel relevant to differential diagnoses.
Figure 1: Comparison of large and small panels
CNV Analysis
Similar to single nucleotide variants (SNVs) and small insertions and deletions (INDELs), copy number variants (CNVs) can cause the patient’s phenotype. Hence genetic testing without CNV analysis is incomplete and may lead to a negative medical report even though there is a genetic cause. At CeGaT a CNV analysis is an integral part of our Diagnostic Panels; it does not need to be requested, it is included in every Diagnostic Panel.
Technically speaking, CeGaT’s CNV analysis is based on a reference map for the expected coverage. This reference map is created from our large in-house database of diagnostic cases. The database comprises a high five-digit number of diagnostic cases. The individual patient sample is compared with this reference map (see figure on the right). Due to the high number of cases in our database, the sensitivity of the CNV analysis is >81% for single exon deletions and >96% for three or more exon deletions. Identified and reported CNVs are validated by MLPA or qPCR.
To ensure best possible diagnostic yield, all our Diagnostic Panels include the analysis of single nucleotide variants (SNVs), small insertions and deletions (INDELs), copy number variants (CNVs), known pathogenic intronic variants and phenotype associated mtDNA hotspots!
Figure 2: CNV analysis principle
