Alpha-1 Antitrypsin Deficiency (A1AD) is a complex genetic disorder. Leveraging our pioneering efforts in A1AD research, we stand at the forefront of developing cutting-edge diagnostic tools to enhance the effective management of A1AD. As your trusted partner in A1AD diagnostic research, we provide unparalleled support to meet your research needs.
Overview of Alpha-1 Antitrypsin Deficiency
Alpha-1 antitrypsin deficiency (A1AD) is a rare genetic disease that poses a significant challenge to individuals around the world. This deficiency primarily affects lung and liver health, leading to conditions such as chronic obstructive pulmonary disease (COPD), cirrhosis, and neonatal jaundice. A1AD is a global condition, with prevalence rates ranging from 1 in 1,500 to 3,500 individuals of European descent. It is less frequently observed among individuals of Asian heritage.
Fig. 1 Pathophysiology and clinical manifestations of A1AD. (Fromme M, et al., 2022)
Pathogenesis of Alpha-1 Antitrypsin Deficiency
Alpha-1 antitrypsin deficiency (A1AD) is characterized by mutations in the SERPINA1 gene, resulting in insufficient production of alpha-1 antitrypsin (A1AT).
Role of Alpha-1 Antitrypsin
A1AT is predominantly synthesized in the liver and serves a critical function in safeguarding tissues against degradation by enzymes like neutrophil elastase. Neutrophil elastase, an enzyme discharged by white blood cells to combat infections, can lead to tissue damage, especially in the lungs, in the absence of adequate levels of A1AT.
The genetic basis of A1AD lies in mutations in the SERPINA1 gene, located on chromosome 14q32. Various mutations in the SERPINA1 gene can result in a spectrum of A1AT deficiency phenotypes, with the PiZ and PiS alleles being among the most common and clinically significant variants associated with severe deficiency.
In Vitro Diagnostic Development for Alpha-1 Antitrypsin Deficiency
In the realm of Alpha-1 antitrypsin deficiency (A1AD), the development of in vitro diagnostic tools plays a pivotal role in enabling early detection, accurate diagnosis, and effective management of this complex genetic disorder. The following are the key strategies for A1AD in vitro diagnostic development.
A1AT Level Test
An essential characteristic of A1AD is the insufficiency of alpha-1 antitrypsin (A1AT). Consequently, assessing the A1AT levels in a patient's blood sample can serve as an indicator of disease presence.
SERPINA1 Gene Testing
The root cause of A1AD lies in mutations within the SERPINA1 gene. SERPINA1 gene testing through molecular technologies such as PCR and NGS sequencing is of great significance for A1AD diagnosis.
Point-of-Care Test
Utilizing portable diagnostic platforms and miniaturized technologies, point-of-care test has significant potential to enhance diagnostic accessibility and efficiency by enabling real-time assessment of A1AT levels.
Our Services
Our company is dedicated to driving innovation in the field of in vitro diagnostics for Alpha-1 antitrypsin deficiency (A1AD). By delving into the pathogenesis of A1AD, we have contributed to the development of alpha-1 antitrypsin (A1AT) detection kits, SERPINA1 gene detection kits, and point-of-care testing (POCT) solutions. Through a meticulous development workflow, we ensure the reliability and accuracy of our diagnostic tools, facilitating early detection and management of A1AD.
Our services extend beyond this scope. Our team of scientists has dedicated extensive efforts to create supplementary devices for in vitro diagnostics of Alpha-1 antitrypsin deficiency (A1AD) to streamline the diagnostic process. Our companion diagnostic development services are tailored to meet the specific needs and requirements of each individual client, ensuring a personalized and comprehensive approach to diagnostic advancements.
If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
References
- Fromme M, Schneider C V, Trautwein C, et al. Alpha-1 antitrypsin deficiency: A re-surfacing adult liver disorder[J]. Journal of Hepatology, 2022, 76(4): 946-958.
- Brantly M, Campos M, Davis A M, et al. Detection of alpha-1 antitrypsin deficiency: the past, present and future[J]. Orphanet journal of rare diseases, 2020, 15: 1-10.
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