Roberts syndrome is a complex genetic disorder that presents numerous diagnostic challenges. Leveraging our pioneering efforts in Roberts syndrome research, we stand at the forefront of developing cutting-edge diagnostic tools to enhance the effective management of Roberts syndrome. As your trusted partner in Roberts syndrome diagnostic research, we provide unparalleled support to meet your research needs.
Overview of Roberts Syndrome
Roberts syndrome is a rare genetic disorder characterized by limb and facial abnormalities, slow growth, and intellectual disability. It is estimated to affect about 1 in every 100,000 to 200,000 live births. Roberts syndrome is primarily caused by mutations in the ESCO2 gene, which is essential for the correct segregation of chromosomes during cell division.
ESCO2 Gene
The ESCO2 gene encodes the ESCO2 protein, which is crucial for establishing cohesion between sister chromatids before cell division. Mutations in the ESCO2 gene result in the production of non-functional or altered ESCO2 protein, thereby weakening its ability to maintain normal chromosome structure.
Chromosome Segregation Defects
Mutations in the ESCO2 gene result in abnormal chromatid attachment, which delays cell division as the cell attempts to compensate for the lack of cohesion. The presence of abnormal chromosome segregation triggers a cellular response that results in either cell death or survival of cells with abnormal chromosomes.
Fig. 1 Schematic diagram of ESCO2 gene sequence. (Gomes J A, et al., 2019)
IVD Development for Roberts Syndrome
In vitro diagnostics (IVD) play a key role in confirming the presence of Roberts syndrome. While specific diagnostic kits for Roberts syndrome may not yet be widely available on the market, advancements in genetic testing technologies may lead to the commercialization of various IVD products for Roberts syndrome diagnosis. The following are some common methods used for in vitro diagnosis of Roberts syndrome.
Chromosome Analysis
This technique involves analyzing the number, size, and shape of chromosomes in a sample of cells. Individuals with Roberts syndrome often exhibit characteristic chromosomal abnormalities, such as premature centromere separation and "railroad track" appearance of chromatids.
Genetic Testing
Genetic testing is performed to identify mutations in the ESCO2 gene, which is responsible for Roberts syndrome. Next-generation sequencing (NGS) techniques are used to sequence the entire gene or specific regions known to be associated with the disorder. PCR is also an important method for identifying ESCO2 gene mutations.
FISH Analysis
Fluorescence in situ hybridization (FISH) is used to analyze specific DNA sequences or chromosomal abnormalities in cells, providing additional information for the diagnosis of Roberts syndrome. FISH kits with specific probes can detect chromosomal abnormalities seen in Roberts syndrome.
Our Services
At our company, our scientists are dedicated to advancing innovative in vitro diagnostic (IVD) development strategies. We specialize in creating high-quality genetic testing reagents and kits tailored for the specific diagnosis of rare genetic diseases such as Roberts syndrome. Our expert team meticulously designs and optimizes reagents and kits to ensure sensitivity, specificity, and reproducibility in detection.
Workflow of IVD Reagent/Kit Development
We also provide IVD device development services to create advanced diagnostic platforms for efficient detection of Roberts syndrome. Our goal is to design user-friendly, reliable diagnostic devices that simplify the testing process and provide accurate results in a timely manner.
IVD Device Development Services
Our point-of-care testing (POCT) development service is dedicated to creating fast and user-friendly diagnostic tools for Roberts syndrome, such as handheld analyzers or compact diagnostic instruments. Our companion diagnostic development services aim to provide guidance for personalized therapies for Roberts syndrome individuals through the development of IVD tests and corresponding equipment.
If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
Reference
- Gomes J A, Kowalski T W, Fraga L R, et al. The role of ESCO2, SALL4 and TBX5 genes in the susceptibility to thalidomide teratogenesis[J]. Scientific Reports, 2019, 9(1): 11413.
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