Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic disorder that impacts cognitive abilities. To address the challenges in diagnosing SLOS, our company invests in advanced technologies and skilled professionals, dedicated to the development of IVD solutions. Our innovative diagnostic kits and equipment will significantly enhance the sensitivity, specificity, and stability of testing.

Overview of SLOS

Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic disorder caused by mutations in the DHCR7 gene. These mutations result in reduced activity of 7-dehydrocholesterol reductase, impairing cholesterol synthesis and leading to the accumulation of toxic byproducts. This imbalance affects various body systems, resulting in distinctive facial features and intellectual disabilities in SLOS individuals. It is estimated that about 1 in every 20,000 to 60,000 newborns is affected by this condition.

Fig. 1 Altered localization and trafficking defects of serotonin 1A receptors in the SLOS cell model. (Chattopadhyay A, Sharma A., 2023)

Diagnostic Biomarkers for SLOS

Efficient diagnosis of Smith-Lemli-Opitz syndrome (SLOS) relies on identifying specific biomarkers associated with the condition. Biomarkers such as cholesterol levels, 7-dehydrocholesterol reductase activity, and genetic mutations in the DHCR7 gene serve as critical indicators for diagnosing SLOS. These biomarkers not only aid in confirming the presence of the syndrome but also contribute to understanding its pathophysiology at a molecular level.

Monitoring cholesterol levels in blood samples can provide valuable insights into the metabolic disturbances associated with SLOS. Low levels of cholesterol and elevated levels of 7-dehydrocholesterol are characteristic findings in individuals with SLOS.

Cholesterol

Assessing the enzymatic activity of 7-dehydrocholesterol reductase can serve as a direct biomarker for diagnosing SLOS. Reduced enzyme activity or its absence in blood samples indicates a dysfunction in cholesterol biosynthesis pathways, suggestive of SLOS.

7-Dehydrocholesterol Reductase

The definitive diagnosis of SLOS often relies on genetic testing to identify pathogenic mutations in the DHCR7 gene. PCR or next-generation sequencing (NGS) techniques can reveal specific genetic variations in the DHCR7 gene associated with SLOS.

DHCR7 Gene Mutations

Challenges in Diagnostic Development for SLOS

Smith-Lemli-Opitz syndrome (SLOS) presents a myriad of challenges in its diagnostic development due to its rare nature, complex genetic basis, and variable clinical manifestations. Overcoming these challenges requires a multifaceted approach that addresses the intricacies of SLOS diagnosis and underscores the need for innovative solutions. Here are some key challenges encountered in the diagnostic development of SLOS:

• Genetic Heterogeneity
• Low Prevalence and Awareness
• Variable Clinical Presentation

• Biochemical Complexity
• Diagnostic Testing Limitations
• New Variant Identification

Our Services

Recognizing the challenges of Smith-Lemli-Opitz syndrome (SLOS) diagnostics, our company is committed to developing innovative diagnostic kits and devices to address unmet needs in this area. Our expertise lies in the creation of genetic detection kits and biomarker detection kits specifically for SLOS to achieve accurate and reliable testing and promote effective management of SLOS.

IVD Product Development Services

Optional IVD Products

Additionally, our services include point-of-care diagnostics and companion diagnostics development tailored for rare genetic diseases such as Smith-Lemli-Opitz syndrome (SLOS). These offerings are instrumental in facilitating swift disease detection and early recognition of SLOS. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.