Summary

Overview
Global Bardet-Biedl syndrome diagnostics market reached US$ XX million in 2022 and is expected to reach US$ XX million by 2030, growing at a CAGR of XX% during the forecast period 2023-2030.
Bardet-Biedl syndrome (BBS) is a genetic condition that impacts multiple body systems. It is classically defined by six features. Patients with BBS can experience problems with obesity, specifically with fat deposition along the abdomen. They often also suffer from intellectual impairments. Commonly, the kidneys, eyes and function of the genitalia will be compromised. People with BBS may also be born with an extra digit on their hands. The severity of BBS varies greatly even among individuals within the same family.
BBS is generally diagnosed based upon the identification of characteristics like visual problems due to retinal dystrophy, truncal obesity and post-axial polydactyly. As diagnosis is based on clinical findings and BBS is associated with variable expression of the classical features, some patients may not have a clear diagnosis for many years. Diagnosis of retinal disease may require consultation with an ophthalmologist and an examination including an electroretinogram (ERG). The ERG is a procedure that measures the electrical response of the retina to light stimulation. Genetic testing may help confirm the diagnosis for some patients like individuals with certain BBS1 and BBS10 gene mutations. Biochemical testing is also used in the diagnosis.
Market Dynamics: Drivers
Increasing adoption of advanced testing panels
The increasing adoption of advanced testing panels is expected to drive the market over the forecast period. Advanced testing panels, particularly next-generation sequencing (NGS) panels, enable the simultaneous analysis of multiple genes associated with Bardet-Biedl Syndrome. This approach provides a more comprehensive assessment, allowing for the identification of a wider range of genetic mutations that may contribute to the syndrome.
For instance, the Igenomix Bardet-Biedl Syndrome Precision Panel can serve as a directed diagnostic tool in making a differential diagnosis of ciliopathies ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes.
NGS, PCR and other advanced testing technologies have improved the efficiency and cost-effectiveness of genetic testing. These technologies allow for high-throughput sequencing, enabling the analysis of multiple genes in a single test. This efficiency can lead to more accessible and cost-effective testing options for individuals and healthcare systems.
For instance, the Paragon Genomics CleanPlex Bardet-Biedl Syndrome Panel is a pre-designed and made-to-order multiplex PCR / amplicon-based targeted sequencing assay for examining the germline variants or mutations across 22 genes associated with Bardet-Biedl Syndrome.
Further, the increasing prevalence of Bardet-Bield syndrome, rising awareness about the early diagnosis for prior treatment and increasing advancements in the diagnosis methods like PCR, NGS and others are the factors expected to drive the market over the forecast period.
Restraints
Factors such as the high cost of the testing, complications associated with the testing of BBS and the lack of awareness about the multiple causes associated with the condition are the factors expected to hamper the market.
Segment Analysis
The global Bardet-Biedl syndrome diagnostics market is segmented based on test type, technology, end-user and region.
The genetic testing segment accounted for approximately 57.5% of the Bardet-Biedl syndrome diagnostics market share
The genetic testing segment is expected to hold the largest market share over the forecast period. Bardet-Biedl syndrome is primarily a genetic disorder and its diagnosis relies on identifying mutations in specific genes associated with the syndrome. Genetic testing is the most direct and reliable way to confirm the presence of these mutations.
Genetic testing allows for the simultaneous analysis of these genes, while clinical evaluation can identify physical and developmental abnormalities associated with BBS, genetic testing helps confirm the diagnosis definitively by identifying mutations in the responsible genes. This confirmation is essential for accurate medical management and genetic counseling.
For instance, the Invitae Bardet-Biedl Syndrome panel analyzes genes that are associated with Bardet-Biedl Syndrome (BBS). These genes were selected based on the available evidence to date to provide a broad analysis for BBS. Broad panel testing allows for an efficient evaluation of several potential genes based on a single clinical indication. Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions.
Geographical Analysis
North America accounted for approximately 41.6% of the market share
North America region is expected to hold the largest market share over the forecast period owing to the strong presence of major players and increasing demand for early diagnosis of the condition in the region. North America especially the United States is home to the strong presence of major players such as pharmaceutical companies and medical device companies that focus on the development of more advanced testing products and panels by using advanced technologies and by saving additional costs.
For instance, CD Genomics custom Bardet-Biedl syndrome panel offers amplicon sequencing by Illumina MiSeq/Ion PGM system that provides unparalleled coverage uniformity so can accurately detect small mutations in BBS-related genes. Only sequencing the customizable Bardet-Biedl syndrome panel suits the requirements, increases throughput and saves costs.
In addition, the increasing demand for early diagnosis of the condition is also expected to drive the market in the region. There is an increasing prevalence of the Bardet-Biedl syndrome in the region, the early diagnosis helps for better treatment. For instance, according to the National Institute of Health (NIH), in the United States, the prevalence of BBS is estimated at 1 in 100,000. This increases the demand for BBS diagnostics for better treatment in the region.
Competitive Landscape
The major global players in the Bardet-Biedl syndrome diagnostics market include Invitae Corporation, Blueprint Genetics Oy, Prevention Genetics, Fulgent Genetics, Paragon Genomics, Inc., Igenomix, CD Genomics, Redcliffe labs, Asper Biogene and Mikrogenlab among others.
COVID-19 Impact Analysis
The COVID-19 pandemic significantly impacted the global Bardet-Biedl syndrome diagnostics market. The pandemic created unprecedented challenges for many industries worldwide, including the global Bardet-Biedl syndrome diagnostics market by temporarily disrupting many research activities due to the redirected focus on the COVID-19 pandemic and its related restrictions. The pandemic also disrupted the supply chain of these testing products globally.
Market Segmentation
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
By Region
• North America
o U.S.
o Canada
o Mexico
• Europe
o Germany
o U.K.
o France
o Spain
o Italy
o Rest of Europe
• South America
o Brazil
o Argentina
o Rest of South America
• Asia-Pacific
o China
o India
o Japan
o Australia
o Rest of Asia-Pacific
• Middle East and Africa
Why Purchase the Report?
• To visualize the global Bardet-Biedl syndrome diagnostics market segmentation based on disease type, treatment type, distribution channel and region as well as understand key commercial assets and players.
• Identify commercial opportunities by analyzing trends and co-development
• Excel data sheet with numerous data points of Bardet-Biedl syndrome diagnostics market-level with all segments.
• PDF report consists of a comprehensive analysis after exhaustive qualitative interviews and an in-depth study.
• Product mapping available as excel consisting of key products of all the major players.
The global Bardet-Biedl syndrome diagnostics market report would provide approximately 61 tables, 61 figures and 187 Pages.
Target Audience 2023
• Manufacturers/ Buyers
• Industry Investors/Investment Bankers
• Research Professionals
• Emerging Companies

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Table of Contents

1. Methodology and Scope
1.1. Research Methodology
1.2. Research Objective and Scope of the Report
2. Definition and Overview
3. Executive Summary
3.1. Snippet by Test Type
3.2. Snippet by Technology
3.3. Snippet by End-User
3.4. Snippet by Region
4. Dynamics
4.1. Impacting Factors
4.1.1. Drivers
4.1.1.1. Increasing Adoption of Advanced Testing Panels
4.1.2. Restraints
4.1.2.1. High Cost of Testing
4.1.3. Opportunity
4.1.4. Impact Analysis
5. Industry Analysis
5.1. Porter's Five Force Analysis
5.2. Supply Chain Analysis
5.3. Pricing Analysis
5.4. Regulatory Analysis
5.5. Pipeline Analysis
5.6. Unmet Needs
5.7. SWOT Analysis
5.8. Patent Analysis
5.9. PESTEL Analysis
6. COVID-19 Analysis
6.1. Analysis of COVID-19
6.1.1. Scenario Before COVID
6.1.2. Scenario During COVID
6.1.3. Scenario Post COVID
6.2. Pricing Dynamics Amid COVID-19
6.3. Demand-Supply Spectrum
6.4. Government Initiatives Related to the Market During the Pandemic
6.5. Manufacturers Strategic Initiatives
6.6. Conclusion
7. By Test Type
7.1. Introduction
7.1.1. Market Size Analysis and Y-o-Y Growth Analysis (%), By Test Type
7.1.2. Market Attractiveness Index, By Test Type
7.2. Biochemical Testing*
7.2.1. Introduction
7.2.2. Market Size Analysis and Y-o-Y Growth Analysis (%)
7.3. Genetic Testing
7.4. Electroretinography (ERG)
7.5. Others
8. By Technology
8.1. Introduction
8.1.1. Market Size Analysis and Y-o-Y Growth Analysis (%), By Technology
8.1.2. Market Attractiveness Index, By Technology
8.2. Next-Generation Sequencing (NGS)*
8.2.1. Introduction
8.2.2. Market Size Analysis and Y-o-Y Growth Analysis (%)
8.3. Polymerase Chain Reaction (PCR)
8.4. Arrayed Primer Extension (APEX)
8.5. Whole Genome Sequencing
8.6. Others
9. By End-User
9.1. Introduction
9.1.1. Market Size Analysis and Y-o-Y Growth Analysis (%), By End-User
9.1.2. Market Attractiveness Index, By End-User
9.2. Hospitals*
9.2.1. Introduction
9.2.2. Market Size Analysis and Y-o-Y Growth Analysis (%)
9.3. Diagnostic Centers
9.4. Homecare
9.5. Others
10. By Region
10.1. Introduction
10.1.1. Market Size Analysis and Y-o-Y Growth Analysis (%), By Region
10.1.2. Market Attractiveness Index, By Region
10.2. North America
10.2.1. Introduction
10.2.2. Key Region-Specific Dynamics
10.2.3. Market Size Analysis and Y-o-Y Growth Analysis (%), By Test Type
10.2.4. Market Size Analysis and Y-o-Y Growth Analysis (%), By Technology
10.2.5. Market Size Analysis and Y-o-Y Growth Analysis (%), By End-User
10.2.6. Market Size Analysis and Y-o-Y Growth Analysis (%), By Country
10.2.6.1. U.S.
10.2.6.2. Canada
10.2.6.3. Mexico
10.3. Europe
10.3.1. Introduction
10.3.2. Key Region-Specific Dynamics
10.3.3. Market Size Analysis and Y-o-Y Growth Analysis (%), By Test Type
10.3.4. Market Size Analysis and Y-o-Y Growth Analysis (%), By Technology
10.3.5. Market Size Analysis and Y-o-Y Growth Analysis (%), By End-User
10.3.6. Market Size Analysis and Y-o-Y Growth Analysis (%), By Country
10.3.6.1. Germany
10.3.6.2. UK
10.3.6.3. France
10.3.6.4. Italy
10.3.6.5. Spain
10.3.6.6. Rest of Europe
10.4. South America
10.4.1. Introduction
10.4.2. Key Region-Specific Dynamics
10.4.3. Market Size Analysis and Y-o-Y Growth Analysis (%), By Test Type
10.4.4. Market Size Analysis and Y-o-Y Growth Analysis (%), By Technology
10.4.5. Market Size Analysis and Y-o-Y Growth Analysis (%), By End-User
10.4.6. Market Size Analysis and Y-o-Y Growth Analysis (%), By Country
10.4.6.1. Brazil
10.4.6.2. Argentina
10.4.6.3. Rest of South America
10.5. Asia-Pacific
10.5.1. Introduction
10.5.2. Key Region-Specific Dynamics
10.5.3. Market Size Analysis and Y-o-Y Growth Analysis (%), By Test Type
10.5.4. Market Size Analysis and Y-o-Y Growth Analysis (%), By Technology
10.5.5. Market Size Analysis and Y-o-Y Growth Analysis (%), By End-User
10.5.6. Market Size Analysis and Y-o-Y Growth Analysis (%), By Country
10.5.6.1. China
10.5.6.2. India
10.5.6.3. Japan
10.5.6.4. Australia
10.5.6.5. Rest of Asia-Pacific
10.6. Middle East and Africa
10.6.1. Introduction
10.6.2. Key Region-Specific Dynamics
10.6.3. Market Size Analysis and Y-o-Y Growth Analysis (%), By Test Type
10.6.4. Market Size Analysis and Y-o-Y Growth Analysis (%), By Technology
10.6.5. Market Size Analysis and Y-o-Y Growth Analysis (%), By End-User
11. Competitive Landscape
11.1. Competitive Scenario
11.2. Market Positioning/Share Analysis
11.3. Mergers and Acquisitions Analysis
12. Company Profiles
12.1. Invitae Corporation*
12.1.1. Company Overview
12.1.2. Product Portfolio and Description
12.1.3. Financial Overview
12.1.4. Key Developments
12.2. Blueprint Genetics Oy
12.3. PreventionGenetics
12.4. Fulgent Genetics
12.5. Paragon Genomics, Inc.
12.6. Igenomix
12.7. CD Genomics
12.8. Redcliffe labs
12.9. Asper Biogene
12.10. Mikrogenlab
LIST NOT EXHAUSTIVE
13. Appendix
13.1. About Us and Services
13.2. Contact Us