At Protheragen, we understand the profound impact of obesity on global health and the intricate biological pathways that contribute to its development. Our commitment lies in providing cutting-edge solutions for comprehensive Obesity Causation Analysis, empowering researchers with the insights needed to address this complex challenge. Our expertise spans genetically induced obesity, disease-induced obesity, and medication-induced obesity.

Within our genetically induced obesity offerings, we proudly feature the Bardet-Biedl syndrome panel test service. Bardet-Biedl syndrome is a rare, complex genetic disorder characterized by a wide array of symptoms, with early-onset obesity being a prominent feature. Accurate genetic testing is crucial for appropriate management and tailored therapeutic approaches.

Beyond causation analysis, Protheragen provides a holistic, one-stop solution for obesity research, accelerating discovery and development across various fronts:

Unraveling the Genetic Roots of Obesity: Protheragen's Bardet-Biedl Syndrome Panel Test

Protheragen's comprehensive monogenic obesity panel test service follows a meticulously designed workflow to ensure accuracy, efficiency, and the highest quality of results. Each stage is optimized to deliver reliable genetic insights for effective research.

Sample Collection and Quality Control

First, you'll provide a biological sample, usually blood or saliva, for DNA extraction. Our team then performs rigorous quality control checks to ensure the sample's integrity and sufficient DNA quantity. This step is crucial for reliable analysis later on.

DNA Extraction and Library Preparation

Next, we extract high-quality genomic DNA from your sample. We then use advanced molecular biology techniques for library preparation. This involves fragmenting the DNA and adding adapter sequences, getting the samples ready for next-generation sequencing (NGS).

Targeted NGS

Utilizing state-of-the-art NGS platforms, we specifically target and sequence the comprehensive panel of genes associated with Bardet-Biedl syndrome. This targeted approach ensures deep coverage of known BBS-related genes and their critical regions, maximizing the detection of pathogenic variants.

Bioinformatics Analysis and Variant Calling

The raw sequencing data undergoes sophisticated bioinformatics analysis. This includes aligning the DNA reads to the human reference genome and calling variants to identify single-nucleotide variants (SNVs), as well as insertions and deletions (indels). We also meticulously filter out common polymorphisms and any sequencing artifacts.

Variant Interpretation and Report

Our team of experienced geneticists and bioinformaticians meticulously interprets identified variants based on established scientific literature and functional prediction tools. A comprehensive report is generated, detailing any pathogenic or likely pathogenic variants.

Workflow

Applications

• Identifying novel gene variants, understanding genotype-phenotype correlations, and contributing to the discovery of new therapeutic targets for Bardet-Biedl syndrome and related obesity conditions.
• Differentiating Bardet-Biedl syndrome from other syndromic or non-syndromic forms of obesity and ciliopathies that share overlapping features.
• Analyzing and identifying the genetic phenotype and heritage characteristics of Bardet-Biedl syndrome in the family to obtain accurate genetic information.

Advantages

• Unrivaled expertise: Our deep understanding of complex genetic disorders, particularly ciliopathies like Bardet-Biedl syndrome, ensures accurate and insightful analysis.
• Comprehensive gene coverage: Our Bardet-Biedl syndrome panel is meticulously designed to include all currently known Bardet-Biedl syndrome-related genes and their critical regions, minimizing the chance of missing relevant mutations. This broad coverage is a hallmark of our thorough approach.
• Advanced NGS technology: We leverage cutting-edge NGS platforms, enabling high-throughput, high-resolution, and cost-effective genetic analysis. Our advanced technology ensures superior data quality and reliable variant detection.

Publication Data

Frequently Asked Questions

1. What exactly is Bardet-Biedl syndrome, and why is genetic testing important for it?

   Bardet-Biedl syndrome is a rare, complex genetic disorder affecting multiple body systems, prominently featuring early-onset obesity, vision loss, kidney issues, and extra digits. Genetic testing is crucial for understanding its specific genetic cause and guiding appropriate management and family planning.

2. What kind of sample do you need for this test, and how should it be shipped?

   Typically, a blood specimen or saliva specimen is required. To ensure the integrity of specimens upon arrival at our facility, detailed protocols regarding specimen collection, storage, and transportation are provided. We prioritize both operational convenience and specimen stability.

At Protheragen, we are committed to advancing the understanding and management of obesity through cutting-edge genetic analysis. Our Bardet-Biedl syndrome panel testing service stands as a testament to our dedication to delivering precise, comprehensive, and actionable insights into the genetic mechanisms underlying this complex condition. We encourage you to contact us to discuss your specific needs, and our team will formulate a customized experimental plan accordingly.

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

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