Neurofibromatosis encompasses a group of genetic disorders characterized by the formation of tumors on nerves and various parts of the body. With our profound expertise in neurofibromatosis diagnostic research, we are well-equipped to deliver tailor-made solutions and comprehensive support to facilitate your journey from neurofibromatosis diagnostic research to commercialization.
Overview of Neurofibromatosis
Neurofibromatosis is a multifaceted genetic disorder impacting the nervous system and skin, posing numerous challenges in both diagnosis and therapeutics. This condition encompasses three main types: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2)-related schwannomatosis, and schwannomatosis (SWN), each characterized by distinct genetic mutations and manifestations.
| Subtypes |
Mutant Gene |
Incidence |
Manifestations |
| NF1 |
NF1 gene |
1 in every 3,000 births |
Uncontrolled cell growth and the development of tumors |
| NF2 |
NF2 gene |
Relatively rare |
Disrupting crucial tumor-suppressing mechanisms primarily affecting nerve tissues |
| SWN |
SMARCB and LZTR1 |
Rare |
Formation of schwannomas and related symptoms |
Pathological Mechanism of Neurofibromatosis
Neurofibromatosis is characterized by distinct pathogenic mechanisms that underlie the development of the condition's various subtypes. Understanding the pathogenesis of Neurofibromatosis is crucial for elucidating the molecular basis of the disease and guiding diagnostic and therapeutic strategies.
- NF1 is chiefly induced by mutations in the NF1 gene, responsible for encoding neurofibromin. Alterations in NF1 result in disrupted cell growth and proliferation, potentially culminating in tumor development.
- NF2-related schwannomatosis is primarily associated with mutations in the NF2 gene, encoding the protein merlin (also known as schwannomin). Loss of functional merlin disrupts cell-cell adhesion and cytoskeletal organization, contributing to tumorigenesis.
- SWN is characterized by mutations in genes such as SMARCB1 and LZTR1, which are involved in chromatin remodeling and tumor suppression mechanisms.
Fig. 1 Molecular pathogenesis of NF1. (Tamura R., 2021)
Genetic Testing for Neurofibromatosis
Genetic testing plays a vital role in confirming neurofibromatosis and determining the specific subtypes. Currently, genetic testing kits for neurofibromatosis that are widely available on the market were not commonly mentioned in the public domain or medical literature. However, developing corresponding diagnostic kits based on the following molecular detection technologies will aid in confirming the diagnosis of neurofibromatosis.
PCR and Sequencing
PCR is used to amplify specific regions of the NF1 and NF2 genes where mutations are commonly found. Sanger sequencing or NGS is then used to analyze the amplified DNA fragments and identify the disease-causing mutations.
MLPA Testing
MLPA is used to detect large deletions or duplications within the NF1 and NF2 genes. MLPA complements sequencing by providing a more comprehensive assessment of genetic changes in the NF genes, particularly when structural variants are suspected.
aCGH Testing
aCGH is used to detect chromosomal imbalances, including deletions or duplications, within the NF genes. This technique provides high-resolution analysis of genomic alterations and helps identify copy number variations that may be associated with NF.
Our Services
There exist numerous gaps in in vitro diagnostics (IVD) for neurofibromatosis. Our company leads the way in the development of genetic disease diagnostics, offering comprehensive IVD solutions for genetic conditions like neurofibromatosis. Our scientists conduct in-depth research on the pathogenesis of neurofibromatosis to develop accurate and reliable gene detection kits. In conjunction with diagnostic equipment, efficient and automated diagnosis can be achieved to promote effective neurofibromatosis management.
IVD Product Development Services
We also provide point-of-care diagnostics and companion diagnostics development services for neurofibromatosis. These services enable rapid detection of biomarkers associated with neurofibromatosis, facilitating early diagnosis and personalized therapeutics tailored to affected individuals.
Questions & Answer
Q: What information do you need to provide for IVD product development services?
A: We would need information regarding your target analytes or biomarkers, assay performance criteria, sample types and volumes, assay methods, quality control requirements, budget, time requirements, etc.
Q: What is the cycle and price of toxoid vaccine development services?
A: Our service timelines and fees vary depending on the complexity of the project. We can provide a detailed quote based on your specific requirements.
If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
Reference
- Tamura R. Current understanding of neurofibromatosis type 1, 2, and schwannomatosis[J]. International journal of molecular sciences, 2021, 22(11): 5850.
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