希少疾患遺伝子検査市場 - 世界および地域の分析：疾患タイプ・提供区分・専門分野・サンプルタイプ・形質タイプ・技術・年齢層・エンドユーザー・国別の分析・予測 (2025-2035年)

世界の希少疾患遺伝子検査の市場は、希少疾患の早期発見に対する需要の増加や、これらの疾患の有病率の上昇を背景に、大きな成長を遂げています。

特に小児患者層における早期診断と予防への関心の高まりが、市場拡大に一層寄与しています。希少疾患の遺伝子検査は、高度な診断ソリューションを可能にし、患者の転帰を改善し、研究を加速することで、医療に大きな変革をもたらす可能性を秘めています。さらに、患者からの需要の増加や、検査結果の迅速化 (ターンアラウンドタイムの短縮) といった要因も、引き続き市場成長を後押ししており、希少疾患遺伝子検査は現代の精密医療における重要な要素となりつつあります。

疾患タイプ別では、内分泌・代謝疾患部門が引き続き優位に

内分泌疾患および代謝性疾患は、一般集団において非常に高い有病率を示しており、その診断と管理は特に複雑です。これらの疾患の診断には、次世代シーケンシング (NGS) を含む希少疾患の遺伝子検査に加え、バイオマーカー分析、新生児スクリーニング、分子診断技術などが用いられ、正確な特定と効果的な管理が図られています。

専門分野別では、分子遺伝子検査が主要なとして優位を維持

分子遺伝子検査の人気が高まっている主な要因は、希少疾患に影響を受けた個人や家族に対して、遺伝カウンセリングや家族計画に必要な重要情報を提供できる点にあります。特定の遺伝子変異を検出することで、希少疾患遺伝子検査は、疾患の遺伝可能性を家族が理解し、次世代への遺伝リスクを評価する助けとなります。さらに、この検査は新生児における遺伝性疾患の特定にも重要な役割を果たしており、早期介入とタイムリーな治療開始を可能にすることで、より良好な健康転帰につながっています。

形質別では、遺伝性形質の部門が最も高い成長を示す見通し

遺伝性形質とは、親から子へDNAを通じて伝えられる遺伝的特徴や疾患のことを指します。これらの形質は、特定の遺伝子における変異や突然変異によって生じ、特定の希少疾患を発症するリスクを高める可能性があります。希少疾患遺伝子検査は、こうした遺伝性の変異を特定する上で極めて重要な役割を果たしており、早期診断、リスク評価、そして当事者やその家族に対する適切な医療判断を可能にします。

技術別では、次世代シーケンシング (NGS) が予測期間中に最も高い成長を示す見通し

NGS技術は、一塩基変異 (SNV) 、挿入、欠失、構造的再構成などの遺伝的変異を高感度かつ高精度で検出できる点が大きな特長です。NGSは希少疾患の遺伝子検査において重要な役割を担っており、包括的なゲノム解析を通じて正確な診断を可能にします。さらに、NGSは非侵襲的出生前検査 (NIPT) にも応用されており、特定の希少遺伝性疾患に関連する胎児の染色体異常の検出を支援することで、早期介入や医学的意思決定にも貢献しています。

中国における希少疾患遺伝子検査市場の拡大は、人口の多さに起因する希少疾患の高い有病率、政策環境の着実な改善、診断・治療分野における協力体制を強化する政府主導の取り組みやパートナーシップによって推進されています。さらに、インドやオーストラリアといった国々も予測期間中に大きな市場成長を遂げると予想されており、これには希少疾患に対する認知の向上、医療インフラの整備、遺伝子検査技術の進歩が大きく寄与しています。

当レポートでは、世界の希少疾患遺伝子検査の市場を調査し、主要動向、市場影響因子の分析、法規制環境、臨床試験の動向、市場規模の推移・予測、各種区分・地域/主要国別の詳細分析、競合情勢、主要企業のプロファイルなどをまとめています。

目次

エグゼクティブサマリー

第1章 世界の希少疾患遺伝子検査市場：概要

• 市場見通し
• 業界展望
  • 市場概要とエコシステム
  • 資金調達シナリオ
  • 特許分析
  • 規制状況/コンプライアンス
• 市場力学
  • 市場機会と動向
  • 市場促進要因
  • 市場抑制要因

第2章 世界の希少疾患遺伝子検査市場：疾患タイプ別

• 概要
• 消化器疾患
• 内分泌代謝疾患
• 心血管疾患
• 神経疾患
• 血液および腫瘍疾患
• 皮膚疾患
• その他

第3章 世界の希少疾患遺伝子検査市場：提供区分別

• 概要
• 製品
• サービス

第4章 世界の希少疾患遺伝子検査市場：専門分野別

• 概要
• 分子遺伝子検査
• 染色体遺伝子検査
• 生化学的遺伝子検査

第5章 世界の希少疾患遺伝子検査市場：サンプルタイプ別

• 概要
• DNAサンプル
• 頬粘膜スワブサンプル
• 血液サンプル
• 唾液サンプル
• その他

第6章 世界の希少疾患遺伝子検査市場：形質タイプ別

• 概要
• 遺伝性形質
• 後天的形質

第7章 世界の希少疾患遺伝子検査市場：技術別

• 概要
• ポリメラーゼ連鎖反応 (PCR)
• 次世代シーケンシング (NGS)
  • 全ゲノム配列解析
  • 全エクソームシークエンシング
• マイクロアレイ
• サンガーシーケンシング
• その他

第8章 世界の希少疾患遺伝子検査市場：年齢層別

• 概要
• 出生前
• 新生児・乳児
• 児童・青少年
• 成人

第9章 世界の希少疾患遺伝子検査市場：エンドユーザー別

• 概要
• 病院
• 診断ラボ
• その他

第10章 世界の希少疾患遺伝子検査市場：地域別

• 市場概要
  • 北米
  • 欧州
  • アジア太平洋
  • ラテンアメリカ
  • その他の地域

第11章 世界の希少疾患遺伝子検査市場：競合ベンチマーキングと企業プロファイル

• 競合ベンチマーキング
• 成長シェアマトリックス
• 競合情勢
• 企業プロファイル
  • 23andMe Inc.
  • 3 billion, Inc.
  • Agilent Technologies, Inc.
  • Azenta U.S., Inc. (GENEWIZ, Inc.)
  • BGI Group
  • CENTOGENE N.V.
  • Exact Sciences Corporation
  • Eurofins Scientific SE.
  • GeneDx, Holdings Corp.
  • Illumina, Inc.
  • Invitae Corporation
  • Konica Minolta (Ambry Genetics, Inc.)
  • Laboratory Corporation of America Holdings
  • Myriad Genetics, Inc.
  • PerkinElmer, Inc.

第12章 調査手法

List of Figures

• Figure: Rare Disease Genetic Testing Market, Market Dynamics Impact Analysis
• Figure: Rare Disease Genetic Testing Market Coverage
• Figure: Rare Disease Genetic Testing Market Key Trends, Impact Analysis, 2025-2035
• Figure: Rare Disease Genetic Testing Market, Patent Analysis, January 2022-March 2025
• Figure: Rare Disease Genetic Testing Market, Competitive Landscape, January 2022-March 2025

List of Tables

• Table: Rare Disease Genetic Testing Market, Comparative Analysis
• Table: Rare Disease Genetic Testing Market, Regulatory Scenario
• Table: Rare Disease Genetic Testing Market Dynamics, Impact Analysis
• Table: Rare Disease Genetic Testing Market (by Trait Type), $Million, 2023-2035
• Table: Rare Disease Genetic Testing Market (by Technology), $Million, 2023-2035
• Table: Rare Disease Genetic Testing Market (by Age Group), $Million, 2023-2035
• Table: Rare Disease Genetic Testing Market (by End User), $Million, 2023-2035

Introduction of Rare Disease Genetic Testing

Before the advent of next-generation sequencing (NGS), including whole-genome sequencing (WGS) and whole-exome sequencing (WES), physicians primarily relied on Sanger sequencing for rare disease genetic testing. However, this method was highly time-consuming, often leading to delays in diagnosis. Until definitive results were available, physicians had to rely on a general diagnostic approach, which prolonged the treatment process for rare disease patients.

According to BIS Research, the global rare disease genetic testing market includes various panels and tests designed to detect genetic abnormalities associated with rare diseases. These tests primarily consist of polymerase chain reaction (PCR)-based and NGS-based techniques, along with specialized panels and assays. Some of the most used rare disease genetic testing panels focus on conditions related to gastroenterology, endocrinology and metabolism, and neurology.

Cutting-edge technologies such as WGS and WES have revolutionized rare disease genetic testing by providing comprehensive genetic analysis. WGS examines an individual's entire genome, while WES focuses on protein-coding regions, helping identify genetic variations, mutations, or abnormalities responsible for rare diseases. These advanced rare disease genetic testing methods have significantly improved diagnostic accuracy and efficiency, enabling earlier and more precise disease identification, and ultimately enhancing patient outcomes.

Industrial Impact on Rare Disease Genetic Testing Market

The global rare disease genetic testing market has witnessed significant growth, driven by the increasing demand for early detection of rare diseases and the rising prevalence of these conditions. The growing emphasis on early diagnosis and prevention, particularly in paediatric populations worldwide, further contributes to market expansion. Rare disease genetic testing holds immense potential to revolutionize healthcare by enabling advanced diagnostic solutions, improving patient outcomes, and accelerating research efforts. Additionally, factors such as increased patient demand and the reduced turnaround time of rare disease genetic testing continue to drive market growth, making it a crucial component of modern precision medicine.

Market Segmentation of Rare Disease Genetic Testing Market:

Segmentation 1: by Disease Type

• Gastroenterology Disease
• Endocrine and Metabolism Disease
• Cardiovascular Disease
• Neurology Disease
• Hematology and Oncology Disease
• Dermatology Disease
• Other Diseases

Endocrine and Metabolism Disease Segment to Continue its Dominance as the Leading Disease Type

Endocrine and metabolic diseases are highly prevalent in the general population, making their diagnosis and management particularly complex. Diagnosing these conditions often involves rare disease genetic testing, including next-generation sequencing (NGS), along with biomarker analysis, newborn screening, and molecular diagnostic techniques to ensure accurate identification and effective management.

Segmentation 2: Offering

• Products
• Services

Services to Witness the Highest Growth Between 2025 and 2035

Services are uniquely designed to cater to the specific needs of individuals affected by rare diseases, healthcare professionals, and researchers in this field. These services enhance the use of diagnostic products and support comprehensive, personalized rare disease genetic testing, ensuring accurate diagnosis and effective disease management.

Segmentation 3: by Specialty Type

• Molecular Genetic Tests
• Chromosomal Genetic Tests
• Biochemical Tests

Molecular Genetic Test to Continue its Dominance as the Leading Specialty Type

The growing popularity of molecular genetic testing is primarily driven by its ability to provide essential information for genetic counseling and family planning for individuals and families affected by rare diseases. By detecting specific genetic mutations, rare disease genetic testing helps families understand the likelihood of disease inheritance and evaluate the risk of passing the condition to future generations. Additionally, this testing plays a crucial role in identifying genetic disorders in newborns, enabling early intervention and timely treatment initiation for better health outcomes.

Segmentation 4: by Sample Type

• DNA Sample
• Buccal Swab Sample
• Blood Sample
• Saliva Sample
• Others

Blood Sample to Witness the Highest Growth Between 2025 and 2035

Blood samples are processed to isolate various components, including white blood cells, serum, or plasma, which are then analyzed to detect genetic abnormalities, identify biochemical markers, or explore other diagnostic indicators. Rare disease genetic testing utilizes advanced methods such as PCR, DNA sequencing, and microarrays on these blood samples to pinpoint specific genetic mutations associated with rare diseases. These techniques enhance diagnostic accuracy, enabling early detection and informed medical decision-making.

Segmentation 5: by Trait Type

• Inherited Trait
• Acquired Trait

Inherited Trait to Witness the Highest Growth between 2025 and 2035

Inherited traits are genetic characteristics or conditions transmitted from parents to their offspring through DNA. These traits arise from variations or mutations in specific genes, which can elevate the risk of developing certain rare diseases. Rare disease genetic testing plays a crucial role in identifying these inherited mutations, enabling early diagnosis, risk assessment, and informed medical decisions for affected individuals and their families.

Segmentation 6: by Technology

• Sanger Sequencing
• PCR
• NGS
• Microarrays
• Others (Targeted Cytogenetics, Karyotyping, and FISH)

Next-Generation Sequencing (NGS) to Witness the Highest Growth between 2025 and 2035

Next-generation sequencing (NGS) technology offers enhanced sensitivity and specificity in detecting genetic variants, including single-nucleotide variants (SNVs), insertions, deletions, and structural rearrangements. It plays a crucial role in rare disease genetic testing, enabling comprehensive genomic analysis for accurate diagnosis. Additionally, NGS extends its applications to non-invasive prenatal testing, facilitating the detection of fetal chromosomal abnormalities associated with certain rare genetic conditions, thereby supporting early intervention and informed decision-making.

Segmentation 7: by Age Group

• Prenatal
• Neonate and Infant
• Children and Adolescent
• Adult

Prenatal to Witness the Highest Growth between 2025 and 2035

Prenatal testing and diagnostics are essential for identifying potential rare diseases and congenital abnormalities in the foetus. As part of rare disease genetic testing, methods such as chorionic villus sampling (CVS) and amniocentesis are utilized to detect genetic disorders or developmental issues early in pregnancy. These advanced diagnostic techniques enable timely medical intervention, informed decision-making, and improved prenatal care for at-risk pregnancies.

Segmentation 8: by End User

• Hospital
• Diagnostics Laboratories
• Other End Users

Hospitals to Witness the Highest Growth Between 2025 and 2035

Hospitals are at the forefront of integrating syndromic testing panels into routine healthcare practices, significantly enhancing diagnostic capabilities in rare disease genetic testing. Leading healthcare institutions, particularly in North America and Europe, and increasingly in the Asia-Pacific region, have adopted these advanced testing panels and assays to deliver more precise and timely diagnoses. This integration supports improved patient care by enabling comprehensive genetic analysis, facilitating early detection, and guiding targeted treatment strategies.

Segmentation 9: by Region

• North America
  • U.S.
  • Canada
• Europe
  • Germany
  • U.K.
  • France
  • Italy
  • Russia
  • Spain
  • Rest-of-Europe
• Asia-Pacific
  • Japan
  • India
  • China
  • South Korea
  • Australia
  • Singapore
  • Rest-of-Asia-Pacific
• Latin America
  • Brazil
  • Mexico
  • Rest-of-Latin America
• Rest-of-the-World

The expansion of the rare disease genetic testing market in China is driven by the high prevalence of rare diseases due to its large population, a progressively favorable policy landscape, and government-led initiatives and partnerships aimed at enhancing collaboration in rare disease diagnosis and treatment. Additionally, countries like India and Australia are expected to experience significant market growth during the forecast period from 2025 to 2035, fuelled by increasing awareness, improved healthcare infrastructure, and advancements in rare disease genetic testing technologies.

Recent Developments in the Rare Disease Genetic Testing Market

• In April 2023, Agilent Technologies, Inc. and Theragen Bio collaborated in South Korea to enhance bioinformatic solutions for cancer genomic profiling, further advancing precision medicine.
• In April 2023, 3billion received accreditation from the California Department of Public Health (CDPH) as a clinical laboratory. With this accreditation, hospitals across California can now utilize 3 billion's rare disease genetic testing services for diagnostics and claim insurance coverage for these tests.
• In February 2023, Akili Labs and BGI Genomics established the first commercial clinical sequencing facility in Africa, strengthening access to rare disease genetic testing and advanced genomic diagnostics in the region.
• In January 2023, Premier Research and CENTOGENE formed a strategic partnership to accelerate and reduce the risk of clinical development for rare diseases, facilitating advancements in rare disease genetic testing and therapeutic research.
• In February 2023, Illumina introduced the first NovaSeq X Plus sequencer and unveiled workflow insights on Illumina Complete Long Reads at the Advances in Genome Biology and Technology (AGBT) conference, supporting advancements in genomic sequencing and rare disease genetic testing.
• In March 2023, Invitae announced a partnership with Epic to streamline rare disease genetic testing through Aura, Epic's specialty diagnostics suite. This collaboration aims to integrate genetic test results seamlessly into provider workflows, making genetic insights more accessible for informed treatment decisions.

Demand - Drivers, Challenges, and Opportunities

Market Demand Drivers:

• Rapid Technological Advancements in Rare Disease Diagnosis: Technological advancements, including next-generation sequencing (NGS), targeted gene panels, and artificial intelligence (AI)-driven algorithms, have significantly enhanced the accuracy of rare disease genetic testing. NGS enables comprehensive genomic analysis, allowing for the precise identification of disease-causing genetic mutations. By uncovering genetic mechanisms and enabling personalized treatment strategies, these innovations are improving patient outcomes, increasing patient satisfaction, and driving market growth. Furthermore, these advancements have led to the emergence of new areas within rare disease genetic testing, opening novel opportunities for research and drug discovery.
• Rising Prevalence of Genetic Disorders and Congenital Disorders: The increasing prevalence of genetic and congenital disorders is a key driver of growth in the global rare disease genetic testing market. The rising demand for diagnostic services, expansion of rare disease genetic testing programs, emphasis on personalized medicine, ongoing research and development initiatives, a supportive regulatory framework, and strong patient advocacy efforts are all contributing to market expansion. Additionally, the growing prevalence of these disorders has led to the expansion of rare disease genetic testing programs, with governments and healthcare organizations implementing newborn screening and prenatal genetic testing initiatives to facilitate early detection and intervention.
• Growing Recognition and Emphasis on Early Detection and Prevention of Rare Diseases in Paediatric Populations: Growing consumer demand for early detection and prevention, along with an increasing focus on personalized medicine and precision healthcare, is expected to drive the expansion of the global rare disease genetic testing market. Factors such as increased awareness and education, patient empowerment, expanded rare disease genetic testing programs, preventive healthcare strategies, supportive policies, and improved insurance coverage are fuelling the demand for diagnostic services. These elements collectively contribute to the rising adoption of rare disease genetic testing, further accelerating market growth.

Market Challenges:

• Lack of Consolidation of Information Leading to Difficulty in Diagnosis: The lack of consolidated information and the resulting challenges in diagnosis present significant obstacles for the global rare disease genetic testing market. Rare diseases often suffer from limited available data, fragmented research findings, and dispersed expertise, making accurate diagnosis more difficult. The vast number of rare diseases, each with distinct symptoms and genetic variations, further complicates efforts to centralize comprehensive knowledge and expertise. This fragmentation hinders advancements in rare disease genetic testing, affecting the efficiency and accessibility of diagnostic solutions.

Significant Capital Requirement for Research and Development Hindering Global Expansion Efforts: The substantial capital required for research and development (R&D) presents a significant challenge for the global rare disease genetic testing market. Advancements in rare disease genetic testing demand extensive genetic studies, clinical trials, and the development of innovative diagnostic tools and therapies, all of which require considerable financial investment. These efforts involve specialized expertise, advanced laboratory infrastructure, regulatory compliance, and patient recruitment, further escalating costs. The high expenses associated with R&D act as a barrier, particularly for smaller companies and research institutions with limited resources, restricting their ability to pursue comprehensive research in rare disease genetic testing. Additionally, since rare diseases impact a small patient population, the limited commercial market potential for diagnostics and treatments makes it challenging to attract sufficient private investment, further hindering progress in rare disease genetic testing.

Market Opportunities:

• Whole-Genome Sequencing Putting an End to the Rare Disease Diagnostic Odysseys: Whole-genome sequencing (WGS) has the potential to transform rare disease genetic testing by ending prolonged diagnostic odysseys and creating significant opportunities for the global rare disease genetic testing market. This advanced technology enables a comprehensive analysis of an individual's entire genome, offering a detailed view of genetic variations and mutations. By providing a thorough assessment, WGS facilitates the detection of both common and rare genetic variants, including those linked to rare diseases. As a result, WGS is emerging as a powerful tool in rare disease genetic testing, enhancing diagnostic accuracy and expanding market potential.
• AI-Based Diagnostic Tools Diagnosing Rare Diseases by Identifying Potential Diagnoses: AI-based diagnostic tools that leverage machine learning and artificial intelligence (AI) algorithms are creating significant opportunities in the global rare disease genetic testing market by enhancing the accuracy and efficiency of rare disease diagnosis. AI and machine learning are revolutionizing rare disease genetic testing by analyzing vast datasets, recognizing patterns, and generating precise predictions. These technologies enable faster and more accurate identification of genetic mutations associated with rare diseases, improving diagnostic outcomes. As AI-driven solutions continue to advance, they are expected to play a crucial role in expanding the capabilities of rare disease genetic testing, driving market growth, and improving patient care.
• Transitioning toward Increased Genetics Coverage in Reimbursement Policies: The shift toward expanded genetics coverage in reimbursement policies presents a significant opportunity for the global rare disease genetic testing market. Increased coverage enhances access to rare disease genetic testing, promotes early diagnosis and intervention, supports research and development initiatives, and drives innovation in the field. Additionally, it alleviates financial burdens for patients, making rare disease genetic testing more accessible and aligning with the principles of personalized medicine. These factors collectively contribute to higher diagnostic rates and advancements in the management of rare diseases, further strengthening the growth and impact of the rare disease genetic testing market.

How Can Rare Disease Genetic Testing Market Report Add Value to an Organization?

Product/Innovation Strategy: The global rare disease genetic testing market is comprehensively segmented across multiple categories, including disease type, specialty type, sample type, end-user, and region. This segmentation provides valuable insights into the market landscape, helping readers identify which segments hold the largest market share and which are poised for significant growth in the coming years. Understanding these divisions enables stakeholders to assess trends, target key opportunities, and strategize effectively for advancements in rare disease genetic testing.

Growth/Marketing Strategy: Between January 2021 and June 2023, partnerships, collaborations, product launches, and upgrades dominated key developments in the global rare disease genetic testing market, accounting for approximately 86.2% of total advancements. These strategic initiatives have played a crucial role in driving innovation, expanding diagnostic capabilities, and enhancing accessibility to rare disease genetic testing, positioning the market for continued growth and technological progress.

Competitive Strategy: The global rare disease genetic testing market comprises numerous established players actively expanding their offerings of tests, panels, and assays. Key industry participants analyzed in the study include leading companies that provide specialized disease-specific panels and multiplex instruments, driving advancements in rare disease genetic testing. These players play a crucial role in enhancing diagnostic accuracy, expanding test accessibility, and fostering innovation to support the growing demand for genetic testing solutions.

Methodology

Key Considerations and Assumptions in Market Engineering and Validation

• Detailed secondary research was performed to ensure maximum coverage of manufacturers/suppliers operational in a country.
• Exact revenue information, up to a certain extent, was extracted for each company from secondary sources and databases. The revenues specific to the product/technology were then estimated for each market player based on fact-based proxy indicators as well as primary inputs.
• The scope of the rare disease genetic testing market report has been carefully derived based on interactions with experts in different companies across the world. The rare disease genetic testing market report provides a market study of rare disease genetic testing tests covering kits, panels, and assays.
• The market contribution of the rare disease genetic testing offerings anticipated to be launched in the future has been calculated based on the historical analysis of the offerings. This analysis has been supported by proxy factors such as the innovation scale of the companies, the status of funding, collaborations, customer base, and patent scenario.
• The scope of availability of the offerings in a particular region has been assessed based on a comprehensive analysis of companies' prospects, the regional end-user perception, and other factors impacting the launch of offerings in that region.
• The base year considered for the calculation of the market size is 2024. A historical year analysis has been done for the period FY2020-FY2023. The market size has been estimated for FY2024 and projected for the period FY2025-FY2035.
• Revenues of the companies have been referenced from their annual reports for FY2022 and FY2023. For private companies, revenues have been estimated based on factors such as inputs obtained from primary research, funding history, product approval status, market collaborations, and operational history.
• Regional distribution of the market revenue has been estimated based on the companies in each region and the adoption rate of the rare disease genetic testing offerings. All the numbers have been adjusted to a single digit after the decimal for better presentation in the report. However, the real figures have been utilized for compound annual growth rate (CAGR) estimation. The CAGR has been calculated for the period 2025-2035.
• The market has been mapped based on the available rare disease genetic testing offerings. All the key companies with significant offerings in this field have been considered and profiled in the rare disease genetic testing market report.
• Market strategies and developments of key players have been considered for the calculation of the potential of the market in the forecast period.
• Patent expiration analysis assumes that the rate of new patent filings would remain the same during the forecast period.

Primary Research:

The primary sources involve industry experts in genomic sequencing, including the market players offering rare disease genetic testing kits/assays and panels and instruments. Resources such as physicians, global sales heads, regional marketing managers, distributors, CXOs, and investors have been interviewed to obtain and verify both qualitative and quantitative aspects of rare disease genetic testing research study.

The key data points taken from the primary sources include:

• validation and triangulation of all the numbers and graphs
• validation of the report's segmentation and key qualitative findings
• understanding the competitive landscape and business model
• current and proposed production values of a product by market players
• validation of the numbers of the different segments of the market in focus
• percentage split of individual markets for regional analysis

Secondary Research

Open Sources

• National Center for Biotechnology Information (NCBI), U.S. Food and Drug Administration (FDA), World Health Organization (WHO), PubMed, Science Direct
• Canadian Institute of Health Research
• Global Health Data Exchange (GHDx)
• European Medicines Agency
• Annual reports, SEC filings, and investor presentations of the leading market players
• Company websites and detailed study of their portfolios
• Gold standard magazines, journals, whitepapers, press releases, and news articles
• Databases
• National Organization for Rare Disease
• Orpha net
• National Institutes of Health

The key data points taken from the secondary sources include:

• segmentations, split-ups, and percentage shares
• data for market value
• quantitative data for mathematical and statistical calculations
• key industry trends of the top players in the market
• Qualitative insights into the market trends are given in addition to emerging areas of innovation. Quantitative data for mathematical and statistical calculations

Table of Contents

Executive Summary

Scope of Study

Research Methodology

1. Global Rare Disease Genetic Testing Market Overview

• 1.1 Market Outlook
  • 1.1.1 Definitions
  • 1.1.2 Inclusion and Exclusion Criteria
  • 1.1.3 Market Size, 2024-2035 (US$)
• 1.2 Industry Outlook
  • 1.2.1 Introduction
  • 1.2.2 Market Overview and Ecosystem
  • 1.2.3 Funding Scenario
  • 1.2.4 Patent Analysis
    • 1.2.4.1 By Country
    • 1.2.4.2 By Year
  • 1.2.5 Regulatory Landscape / Compliances
    • 1.2.5.1 Legal Requirement and Framework in U.S.
    • 1.2.5.2 Legal Requirement and Framework in E.U.
      • 1.2.5.2.1 U.K.
      • 1.2.5.2.2 Spain
    • 1.2.5.3 Legal Requirement and Framework in Asia-Pacific
      • 1.2.5.3.1 Japan
      • 1.2.5.3.2 China
      • 1.2.5.3.3 India
      • 1.2.5.3.4 Taiwan
    • 1.2.5.4 Other Key Countries
• 1.3 Market Dynamics
  • 1.3.1 Market Opportunities and Trends
  • 1.3.2 Market Drivers
    • 1.3.2.1 Impact Analysis
  • 1.3.3 Market Restraints
    • 1.3.3.1 Impact Analysis

2. Global Rare Disease Genetic Testing Market (By Disease Type), $Million, 2023-2035

• 2.1 Overview
• 2.2 Gastroenterology Disease
• 2.3 Endocrine and Metabolism Disease
• 2.4 Cardiovascular Disease
• 2.5 Neurological Disease
• 2.6 Hematology and Oncology Disease
• 2.7 Dermatological Disease
• 2.8 Others

3. Global Rare Disease Genetic Testing Market (By Offering), $Million, 2023-2035

• 3.1 Overview
• 3.2 Products
• 3.3 Services

4. Global Rare Disease Genetic Testing Market (By Specialty Type), $Million, 2023-2035

• 4.1 Overview
• 4.2 Molecular Genetic Tests
• 4.3 Chromosomal Genetic Tests
• 4.4 Biochemical Genetic Tests

5. Global Rare Disease Genetic Testing Market (By Sample Type), $Million, 2023-2035

• 5.1 Overview
• 5.2 DNA Sample
• 5.3 Buccal Swab Sample
• 5.4 Blood Sample
• 5.5 Saliva Sample
• 5.6 Others

6. Global Rare Disease Genetic Testing Market (By Trait Type), $Million, 2023-2035

• 6.1 Overview
• 6.2 Inherited Trait
• 6.3 Acquired Trait

7. Global Rare Disease Genetic Testing Market (By Technology), $Million, 2023-2035

• 7.1 Overview
• 7.2 Polymerase Chain Reaction (PCR)
• 7.3 Next-Generation Sequencing (NGS)
  • 7.3.1 Whole Genome Sequencing
  • 7.3.2 Whole Exome Sequencing
• 7.4 Microarrays
• 7.5 Sanger Sequencing
• 7.6 Other Technologies

8. Global Rare Disease Genetic Testing Market (By Age Group), $Million, 2023-2035

• 8.1 Overview
• 8.2 Prenatal
• 8.3 Neonate and Infant
• 8.4 Children and Adolescent
• 8.5 Adult

9. Global Rare Disease Genetic Testing Market (By End User), $Million, 2023-2035

• 9.1 Overview
• 9.2 Hospitals
• 9.3 Diagnostic Laboratories
• 9.4 Other End Users

10. Global Rare Disease Genetic Testing Market (By Region), $Million, 2023-2035

• 10.1 Market Overview
  • 10.1.1 North America
    • 10.1.1.1 Market Dynamics
      • 10.1.1.1.1 Impact Analysis
    • 10.1.1.2 North America Rare Disease Genetic Testing Market (by Disease Type)
    • 10.1.1.3 North America Rare Disease Genetic Testing Market (by Technology)
    • 10.1.1.4 North America Rare Disease Genetic Testing Market (by Country)
    • 10.1.1.5 U.S.
      • 10.1.1.5.1 Market Dynamics
      • 10.1.1.5.2 Market Size and Forecast
        • 10.1.1.5.2.1 U.S. Rare Disease Genetic Testing (by Disease Type)
        • 10.1.1.5.2.2 U.S. Rare Disease Genetic Testing (by Technology)
    • 10.1.1.6 Canada
      • 10.1.1.6.1 Market Dynamics
      • 10.1.1.6.2 Market Size and Forecast
        • 10.1.1.6.2.1 Canada Rare Disease Genetic Testing (by Disease Type)
        • 10.1.1.6.2.2 Canada Rare Disease Genetic Testing (by Technology)
  • 10.1.2 Europe
    • 10.1.2.1 Market Dynamics
      • 10.1.2.1.1 Impact Analysis
    • 10.1.2.2 Europe Rare Disease Genetic Testing Market (by Disease Type)
    • 10.1.2.3 Europe Rare Disease Genetic Testing Market (by Technology)
    • 10.1.2.4 Europe Rare Disease Genetic Testing Market (by Country)
    • 10.1.2.5 U.K.
      • 10.1.2.5.1 Market Dynamics
      • 10.1.2.5.2 Market Size and Forecast
        • 10.1.2.5.2.1 U.K. Rare Disease Genetic Testing (by Disease Type)
        • 10.1.2.5.2.2 U.K. Rare Disease Genetic Testing (by Technology)
    • 10.1.2.6 Germany
      • 10.1.2.6.1 Market Dynamics
      • 10.1.2.6.2 Market Size and Forecast
        • 10.1.2.6.2.1 Germany Rare Disease Genetic Testing (by Disease Type)
        • 10.1.2.6.2.2 Germany Rare Disease Genetic Testing (by Technology)
    • 10.1.2.7 France
      • 10.1.2.7.1 Market Dynamics
      • 10.1.2.7.2 Market Size and Forecast
        • 10.1.2.7.2.1 France Rare Disease Genetic Testing (by Disease Type)
        • 10.1.2.7.2.2 France Rare Disease Genetic Testing (by Technology)
    • 10.1.2.8 Italy
      • 10.1.2.8.1 Market Dynamics
      • 10.1.2.8.2 Market Size and Forecast
        • 10.1.2.8.2.1 Italy Rare Disease Genetic Testing (by Disease Type)
        • 10.1.2.8.2.2 Italy Rare Disease Genetic Testing (by Technology)
    • 10.1.2.9 Spain
      • 10.1.2.9.1 Market Dynamics
      • 10.1.2.9.2 Market Size and Forecast
        • 10.1.2.9.2.1 Spain Rare Disease Genetic Testing (by Disease Type)
        • 10.1.2.9.2.2 Spain Rare Disease Genetic Testing (by Technology)
    • 10.1.2.10 Russia
      • 10.1.2.10.1 Market Dynamics
      • 10.1.2.10.2 Market Size and Forecast
        • 10.1.2.10.2.1 Russia Rare Disease Genetic Testing (by Disease Type)
        • 10.1.2.10.2.2 Russia Rare Disease Genetic Testing (by Technology
    • 10.1.2.11 Rest-of-Europe
      • 10.1.2.11.1 Market Dynamics
      • 10.1.2.11.2 Market Size and Forecast
        • 10.1.2.11.2.1 Rest-of-Europe Rare Disease Genetic Testing (by Disease Type)
        • 10.1.2.11.2.2 Rest-of-Europe Rare Disease Genetic Testing (by Technology)
  • 10.1.3 Asia-Pacific
    • 10.1.3.1 Market Dynamics
      • 10.1.3.1.1 Impact Analysis
    • 10.1.3.2 Asia-Pacific Rare Disease Genetic Testing Market (by Disease Type)
    • 10.1.3.3 Asia-Pacific Rare Disease Genetic Testing Market (by Technology)
    • 10.1.3.4 Asia-Pacific Rare Disease Genetic Testing Market (by Country)
    • 10.1.3.5 Japan
      • 10.1.3.5.1 Market Dynamics
      • 10.1.3.5.2 Market Size and Forecast
        • 10.1.3.5.2.1 Japan Rare Disease Genetic Testing (by Disease Type)
        • 10.1.3.5.2.2 Japan Rare Disease Genetic Testing (by Technology)
    • 10.1.3.6 China
      • 10.1.3.6.1 Market Dynamics
      • 10.1.3.6.2 Market Size and Forecast
        • 10.1.3.6.2.1 China Rare Disease Genetic Testing (by Disease Type)
        • 10.1.3.6.2.2 China Rare Disease Genetic Testing (by Technology)
    • 10.1.3.7 India
      • 10.1.3.7.1 Market Dynamics
      • 10.1.3.7.2 Market Size and Forecast
        • 10.1.3.7.2.1 India Rare Disease Genetic Testing (by Disease Type)
        • 10.1.3.7.2.2 India Rare Disease Genetic Testing (by Technology)
    • 10.1.3.8 Australia
      • 10.1.3.8.1 Market Dynamics
      • 10.1.3.8.2 Market Size and Forecast
        • 10.1.3.8.2.1 Australia Rare Disease Genetic Testing (by Disease Type)
        • 10.1.3.8.2.2 Australia Rare Disease Genetic Testing (by Technology)
    • 10.1.3.9 Singapore
      • 10.1.3.9.1 Market Dynamics
      • 10.1.3.9.2 Market Size and Forecast
        • 10.1.3.9.2.1 Singapore Rare Disease Genetic Testing (by Disease Type)
        • 10.1.3.9.2.2 Singapore Rare Disease Genetic Testing (by Technology)
    • 10.1.3.10 South Korea
      • 10.1.3.10.1 Market Dynamics
      • 10.1.3.10.2 Market Size and Forecast
        • 10.1.3.10.2.1 South Korea Rare Disease Genetic Testing (by Disease Type)
        • 10.1.3.10.2.2 South Korea Rare Disease Genetic Testing (by Technology
    • 10.1.3.11 Rest-of-Asia-Pacific
      • 10.1.3.11.1 Market Dynamics
      • 10.1.3.11.2 Market Size and Forecast
        • 10.1.3.11.2.1 Rest-of-Asia-Pacific Rare Disease Genetic Testing (by Disease Type)
        • 10.1.3.11.2.2 Rest-of-Asia-Pacific Rare Disease Genetic Testing (by Technology)
  • 10.1.4 Latin America
    • 10.1.4.1 Market Dynamics
      • 10.1.4.1.1 Impact Analysis
    • 10.1.4.2 Latin America Rare Disease Genetic Testing Market (by Disease Type)
    • 10.1.4.3 Latin America Rare Disease Genetic Testing Market (by Technology)
    • 10.1.4.4 Latin America Rare Disease Genetic Testing Market (by Country)
    • 10.1.4.5 Brazil
      • 10.1.4.5.1 Market Dynamics
      • 10.1.4.5.2 Market Size and Forecast
        • 10.1.4.5.2.1 Brazil Rare Disease Genetic Testing (by Disease Type)
        • 10.1.4.5.2.2 Brazil Rare Disease Genetic Testing (by Technology)
    • 10.1.4.6 Mexico
      • 10.1.4.6.1 Market Dynamics
      • 10.1.4.6.2 Market Size and Forecast
        • 10.1.4.6.2.1 Mexico Rare Disease Genetic Testing (by Disease Type)
        • 10.1.4.6.2.2 Mexico Rare Disease Genetic Testing (by Technology)
    • 10.1.4.7 Rest-of-Latin America
      • 10.1.4.7.1 Market Dynamics
      • 10.1.4.7.2 Market Size and Forecast
        • 10.1.4.7.2.1 Rest-of-Latin America Rare Disease Genetic Testing (by Disease Type)
        • 10.1.4.7.2.2 Rest-of-Latin America Disease Genetic Testing (by Technology)
  • 10.1.5 Rest-of-the-World
    • 10.1.5.1 Market Dynamics
    • 10.1.5.2 Market Size and Forecast
      • 10.1.5.2.1.1 Rest-of-the-World Rare Disease Genetic Testing (by Disease Type)
      • 10.1.5.2.1.2 Rest-of-the-World Rare Disease Genetic Testing (by Technology)

11. Global Rare Disease Genetic Testing Market - Competitive Benchmarking and Company Profiles

• 11.1 Competitive Benchmarking
• 11.2 Growth Share matrix (2024)
  • 11.2.1 By Disease Type
  • 11.2.2 By Technology Type
• 11.3 Competitive Landscape
  • 11.3.1 Key Strategies and Developments by Company
    • 11.3.1.1 Funding Activities
    • 11.3.1.2 Mergers and Acquisitions
    • 11.3.1.3 Regulatory Approvals
    • 11.3.1.4 Partnerships, Collaborations and Business Expansions
  • 11.3.2 Key Developments Analysis
• 11.4 Company Profiles
  • 11.4.1 23andMe Inc.
    • 11.4.1.1 Company Overview
    • 11.4.1.2 Product Portfolio
    • 11.4.1.3 Target Customers/End Users
    • 11.4.1.4 Analyst View
  • 11.4.2 3 billion, Inc.
    • 11.4.2.1 Company Overview
    • 11.4.2.2 Product Portfolio
    • 11.4.2.3 Target Customers/End Users
    • 11.4.2.4 Analyst View
  • 11.4.3 Agilent Technologies, Inc.
    • 11.4.3.1 Company Overview
    • 11.4.3.2 Product Portfolio
    • 11.4.3.3 Target Customers/End Users
    • 11.4.3.4 Analyst View
  • 11.4.4 Azenta U.S., Inc. (GENEWIZ, Inc.)
    • 11.4.4.1 Company Overview
    • 11.4.4.2 Product Portfolio
    • 11.4.4.3 Target Customers/End Users
    • 11.4.4.4 Analyst View
  • 11.4.5 BGI Group
    • 11.4.5.1 Company Overview
    • 11.4.5.2 Product Portfolio
    • 11.4.5.3 Target Customers/End Users
    • 11.4.5.4 Analyst View
  • 11.4.6 CENTOGENE N.V.
    • 11.4.6.1 Company Overview
    • 11.4.6.2 Product Portfolio
    • 11.4.6.3 Target Customers/End Users
    • 11.4.6.4 Analyst View
  • 11.4.7 Exact Sciences Corporation
    • 11.4.7.1 Company Overview
    • 11.4.7.2 Product Portfolio
    • 11.4.7.3 Target Customers/End Users
    • 11.4.7.4 Analyst View
  • 11.4.8 Eurofins Scientific SE.
    • 11.4.8.1 Company Overview
    • 11.4.8.2 Product Portfolio
    • 11.4.8.3 Target Customers/End Users
    • 11.4.8.4 Analyst View
  • 11.4.9 GeneDx, Holdings Corp.
    • 11.4.9.1 Company Overview
    • 11.4.9.2 Product Portfolio
    • 11.4.9.3 Target Customers/End Users
    • 11.4.9.4 Analyst View
  • 11.4.10 Illumina, Inc.
    • 11.4.10.1 Company Overview
    • 11.4.10.2 Product Portfolio
    • 11.4.10.3 Target Customers/End Users
    • 11.4.10.4 Analyst View
  • 11.4.11 Invitae Corporation
    • 11.4.11.1 Company Overview
    • 11.4.11.2 Product Portfolio
    • 11.4.11.3 Target Customers/End Users
    • 11.4.11.4 Analyst View
  • 11.4.12 Konica Minolta (Ambry Genetics, Inc.)
    • 11.4.12.1 Company Overview
    • 11.4.12.2 Product Portfolio
    • 11.4.12.3 Target Customers/End Users
    • 11.4.12.4 Analyst View
  • 11.4.13 Laboratory Corporation of America Holdings
    • 11.4.13.1 Company Overview
    • 11.4.13.2 Product Portfolio
    • 11.4.13.3 Target Customers/End Users
    • 11.4.13.4 Analyst View
  • 11.4.14 Myriad Genetics, Inc.
    • 11.4.14.1 Company Overview
    • 11.4.14.2 Product Portfolio
    • 11.4.14.3 Target Customers/End Users
    • 11.4.14.4 Analyst View
  • 11.4.15 PerkinElmer, Inc.
    • 11.4.15.1 Company Overview
    • 11.4.15.2 Product Portfolio
    • 11.4.15.3 Target Customers/End Users
    • 11.4.15.4 Analyst View

12. Research Methodology