Development of precise and reliable diagnostic tools is paramount in the effective management of Alagille syndrome (ALGS). With our profound expertise in Alagille syndrome diagnostic research, we are well-equipped to deliver tailor-made solutions and comprehensive support to facilitate your journey from Alagille syndrome diagnostic research to commercialization.
Introduction to Alagille Syndrome
Alagille syndrome (ALGS) is a rare genetic disorder characterized by inadequate bile ducts in the liver, leading to bile accumulation, liver damage, and potential failure. This condition affects multiple organs and can present a myriad of symptoms, including jaundice, itching, growth delays, heart murmurs, kidney issues, and distinctive facial features. With a prevalence of approximately 1 in 70,000 babies, early diagnosis and intervention are crucial for managing this complex syndrome.
Fig. 1 The standard Notch-signaling pathways. (Sanchez P, et al., 2021)
Pathogenesis of Alagille Syndrome
Alagille syndrome (ALGS) is closely associated with mutations in the JAG1 gene located on chromosome 20. This gene plays a crucial role in embryonic development, particularly in the formation of various tissues and organs, including bile ducts in the liver. Mutations in the JAG1 gene disrupt the normal Notch signaling pathways necessary for bile duct development, leading to the typical bile duct paucity seen in patients with Alagille syndrome.
Genetic Inheritance
Alagille syndrome can be inherited in an autosomal dominant pattern, meaning that a mutation in just one copy of the JAG1 gene is sufficient to cause the condition. In some cases, mutations may also occur spontaneously, even in the absence of a family history of the syndrome. Individuals carrying the mutation have a 50% chance of passing on the syndrome to their offspring.
In Vitro Diagnostic (IVD) Development for Alagille Syndrome
One of the key aspects in diagnosing Alagille syndrome is identifying mutations in the JAG1 or NOTCH2 genes associated with the condition. While there are currently no commercially available IVD kits specifically for diagnosing Alagille syndrome, relevant gene mutations can be identified through genetic testing.
Table. 1 Genetic testing steps for Alagille syndrome.
| Steps |
Description |
| Sample Collection |
A sample of the patient's DNA is collected, often through a blood sample. |
| DNA Extraction |
The DNA is extracted from the sample using standard laboratory techniques. |
| Polymerase Chain Reaction (PCR) |
Specific regions of the JAG1 and NOTCH2 genes are amplified using PCR. |
| DNA Sequencing |
The amplified DNA fragments are sequenced using Sanger sequencing or next-generation sequencing methods to determine the exact sequence of nucleotides in the gene. |
| Data Analysis |
The sequencing data is then analyzed to identify any mutations or variations in the JAG1 or NOTCH2 genes that are associated with Alagille syndrome. |
Our Services
At our company, we specialize in the development of in vitro diagnostics (IVD) tailored for Alagille syndrome. Our unwavering commitment is directed towards the creation of cutting-edge IVD reagents and kits designed to pinpoint mutations within the JAG1 or NOTCH2 genes with exceptional precision. Through the innovation of complementary diagnostic devices, we aim to facilitate the early recognition and precise diagnosis of Alagille syndrome.
Diagnostic Development Services
- DNA Sequencing Kits
- MLPA Kits
- Genetic Testing Panels
- Custom Biochips
- JAG1 Protein Detection Antibodies
- Primers and Probes
- DNA Extraction Reagents
- PCR Reagents
- Nucleic Acid Extractor
- PCR Instrument
- Bioinformatics Software
- And More
At our company, we are proud to introduce our innovative point-of-care test and companion diagnostic development for Alagille syndrome, revolutionizing the landscape of genetic testing and personalized healthcare. These services prioritize accessibility and reliability. Through user-friendly platforms and robust analytical performance, we ensure that healthcare providers and patients have access to accurate genetic testing solutions that drive clinical decision-making.
If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
References
- Sanchez P, Farkhondeh A, Pavlinov I, et al. Therapeutics development for alagille syndrome[J]. Frontiers in Pharmacology, 2021, 12: 704586.
- Ayoub M D, Kamath B M. Alagille syndrome: diagnostic challenges and advances in management[J]. Diagnostics, 2020, 10(11): 907.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
