Press release
Bardet-Biedl Syndrome Diagnostics Market Demonstrates Significant CAGR, Forecast Period 2024-2031 | Invitae Corporation, Blueprint Genetics Oy, Prevention Genetics
Bardet-Biedl Syndrome Diagnostics Market is valued at a significant CAGR during the forecast period (2024-2031). As per DataM Intelligence Database.The Bardet-Biedl Syndrome (BBS) Diagnostics Market focuses on tools and technologies used to identify Bardet-Biedl Syndrome, a rare genetic disorder affecting multiple organ systems, including vision, kidneys, and metabolism. Diagnostic methods typically include genetic testing, molecular analysis, and clinical evaluations to detect mutations in BBS-related genes. The market is growing due to increasing awareness of rare diseases, advancements in next-generation sequencing (NGS), and government initiatives supporting early diagnosis. Moreover, the rising integration of AI-driven genetic analysis and precision medicine is enhancing diagnostic accuracy and patient management in BBS cases.
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β Bardet-Biedl Syndrome Diagnostics Market Recent Developments 2025:
United States: Recent Industry Developments
β In September 2025, PreventionGenetics (a part of Exact Sciences) expanded its rare genetic testing portfolio to include a comprehensive Bardet-Biedl Syndrome (BBS) diagnostic panel analyzing over 20 BBS-related genes using next-generation sequencing (NGS) for improved diagnostic accuracy.
β In August 2025, Invitae Corporation launched an updated BBS genetic testing service integrated with AI-driven variant interpretation tools, enabling faster and more precise identification of pathogenic mutations in suspected BBS patients.
β In July 2025, PerkinElmer Genomics collaborated with the National Institutes of Health (NIH) to enhance whole-exome sequencing programs for early detection of BBS and other ciliopathies through population-scale screening initiatives.
β In June 2025, GeneDx (BioReference Health) introduced a rapid exome-based diagnostic test tailored for pediatric cases of BBS, significantly reducing turnaround time for clinical decision-making and personalized treatment planning.
Japan: Recent Industry Developments
β In September 2025, Sysmex Corporation launched a next-generation sequencing workflow for rare disease diagnostics, including Bardet-Biedl Syndrome, aimed at supporting precision medicine efforts in national health institutions.
β In August 2025, Riken Genomic Sciences Center initiated a nationwide genetic screening project focusing on ciliopathies such as BBS to improve early diagnosis and genetic counseling accessibility.
β In July 2025, Tohoku University Hospital introduced a clinical gene panel test for BBS using hybrid-capture sequencing, allowing simultaneous analysis of multiple genes implicated in retinal dystrophy and obesity syndromes.
β In June 2025, Takara Bio Inc. developed a customized BBS gene enrichment kit to support academic and clinical research, accelerating variant detection and genotype-phenotype correlation studies in Japanese populations.
β Bardet-Biedl Syndrome Diagnostics Market Competitive Landscape:
Invitae Corporation, Blueprint Genetics Oy, Prevention Genetics, Fulgent Genetics, Paragon Genomics, Inc., Igenomix, CD Genomics, Redcliffe labs, Asper Biogene and Mikrogenlab among others.
Research Methodology
We follow a hybrid research approach, combining qualitative insights with rigorous quantitative analysis to deliver reliable and comprehensive market intelligence. Our process begins with extensive secondary research, drawing on trusted industry reports, proprietary databases, and credible market sources. This is then reinforced through targeted primary research, including structured surveys and in-depth interviews with industry leaders, subject matter experts, and key market participants.
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β Segments Covered in the Bardet-Biedl Syndrome Diagnostics Market:
By Test Type:
Biochemical Testing | Genetic Testing | Electroretinography (ERG) | Others
By Technology:
Next-Generation Sequencing (NGS) | Polymerase Chain Reaction (PCR) | Arrayed Primer Extension (APEX) | Whole Genome Sequencing | Others
By End-User:
Hospitals | Diagnostic Centers | Homecare | Others
β This Report Includes:
β Comprehensive go-to-market strategies with actionable insights.
β Unbiased evaluation of overall market performance.
β Deep-dive analysis into development trends, competitive landscape, supply-demand dynamics, YoY growth, benchmarking, vendor mapping, market access, and overall progress.
β Tailored regional and country-level reports with detailed localized analysis available on request.
β Identification of niche segments and high-growth regions presenting strong opportunities.
β Accurate regional forecasts using both top-down and bottom-up approaches.
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β Regional Analysis for Bardet-Biedl Syndrome Diagnostics Market:
β₯ North America (U.S., Canada, Mexico)
β₯ Europe (U.K., Italy, Germany, Russia, France, Spain, The Netherlands and Rest of Europe)
β₯ Asia-Pacific (India, Japan, China, South Korea, Australia, Indonesia Rest of Asia Pacific)
β₯ South America (Colombia, Brazil, Argentina, Rest of South America)
β₯ Middle East & Africa (Saudi Arabia, U.A.E., South Africa, Rest of Middle East & Africa)
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