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CentoLCV – Our versatile platform for detecting chromosomal imbalances
As part of our commitment to helping end the diagnostic odyssey of rare disease patients, CENTOGENE has developed CentoLCV – a comprehensive Copy Number Variation (CNV) analysis using genome-wide Next Generation Sequencing (NGS).
CNVs are involved with a wide variety of genetic disorders, ranging from pediatric disorders and congenital birth defects to adult-onset neurological disorders, and have a significant impact on human health and disease.1-4 NGS, and more specifically Whole Genome Sequencing (WGS), are powerful tools to detect CNVs.6,7
CentoLCV, our new CNV detection platform, is an affordable WGS-based test for detecting large CNVs (i.e., full and partial chromosomal aneuploidies, microdeletions, microduplications, and partial or complete single-gene related CNVs of clinical relevance), with higher sensitivity and resolution across the whole genome than conventional tests using karyotyping or microarrays.5
CentoLCV ultimately allows for a more accurate molecular diagnosis, leading to better and more informed outcomes.
Why choose CentoLCV?
Who should consider CentoLCV?
Geneticists, neonatologists, pediatricians, and neurologists providing diagnoses and treatments for patients matching any of the following criteria:
- Suspected chromosomal imbalances (e.g., Down syndrome and Turner syndrome), including microdeletion/microduplication syndromes (e.g., DiGeorge syndrome and Williams syndrome)
- Multiple congenital anomalies, including global developmental delay (e.g., Phelan-McDermid syndrome), intellectual disability (e.g., 17q21.31 microdeletion in learning disability), and many more
- Autism or autism spectrum disorders (e.g., 16p11.2 microdeletion in autism)
What is the role of CNVs?
CNVs, which represent a large component of structural variations in the human genome, consist of gains or losses of genomic DNA regions ranging from a few thousand to several million DNA base pairs in size.1-2
CNVs are tied to a significant amount of genetic disorders and play prominent roles in newborns and children with developmental delays/intellectual disabilities, multiple congenital anomalies, as well as autism spectrum disorders.
For these pediatric patients, an accurate and fast test that detects CNV changes is crucial for helping physicians establish an early diagnosis and take the first steps towards improved patient outcomes.
CentoLCV – Key Features
CentoLCV is based on high throughput genome sequencing technology and covers the complete genome at the sequence level. It confidently detects CNVs with high sensitivity and resolution, providing a fast and precise diagnostic test.5
| CATEGORY | FEATURES |
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| COVERAGE |
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| VARIANTS |
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| DETECTION RANGE AND SENSITIVITY |
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Why is CentoLCV a superior alternative to chromosomal microarrays?
- It provides robust detection of CNV changes throughout the entire genome with higher resolution and precision than conventional karyotyping and microarrays5-7
- Many hereditary disorders are also caused by novel aberrations, which may be difficult to detect with conventional karyotyping and microarrays5-7
- It exceeds the diagnostic yield of conventional karyotyping and microarrays5-8
| FEATURES | CentoLCV | MICROARRAYS | KARYOTYPING |
|---|---|---|---|
| RESOLUTION RANGE5-7 | Exon/gene- to chromosome level
| Sub- to chromosome level | Chromosome level |
| COVERAGE AND TARGET RANGE5-7 | Unbiased across the whole genome | Biased by probe spacing and density across the genome | Narrowed to large chromosome changes across the genome |
| DIAGNOSTIC YIELD5-8 | >15% | 10-15% | 3-7% |
REFERENCES: 1Freeman et al. 2006, PMID: 16809666; 2Zhang et al. 2009, PMID: 19715442; 3Shaikh 2017, PMID: 29732242; 4Lew et al. 2018, PMID: 30258274; 5CENTOGENE data on file; 6Zhou et al. 2018, PMID: 30061371; 7Dong et al. 2016, PMID: 26820068; 8Miller et al. 2010, PMID: 20466091