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罕见疾病基因检测市场－按疾病类型、产品细分、专业、样本类型、特征类型、技术、年龄层、最终用户和国家进行的全球和区域分析及预测（2025 年至 2035 年）
市场调查报告书
商品编码
1754871

罕见疾病基因检测市场－按疾病类型、产品细分、专业、样本类型、特征类型、技术、年龄层、最终用户和国家进行的全球和区域分析及预测（2025 年至 2035 年）

Rare Disease Genetic Testing Market - A Global and Regional Analysis: Focus on Disease Type, Offering, Speciality, Sample Type, Trait Type, Technology, Age Group, End User, and Country Analysis - Analysis and Forecast, 2025-2035
出版日期: | 出版商: BIS Research | 英文 150 Pages | 商品交期: 1-5个工作天内

价格

全球罕见疾病基因检测市场正在经历显着增长，这得益于对罕见疾病早期检测的需求不断增长以及这些疾病患病率不断上升。

人们对早期诊断和预防的兴趣日益浓厚，尤其是在儿科患者群体中，这进一步促进了市场的扩张。罕见疾病基因检测可望透过提供先进的诊断解决方案、改善患者预后并加速研究进程，彻底改变医疗保健产业。此外，患者需求的增加和更快的检测结果（缩短週转时间）等因素继续推动市场成长，罕见疾病基因检测已成为现代精准医疗的重要组成部分。

按疾病类型划分，内分泌和代谢类疾病继续占主导地位

内分泌和代谢疾病在一般人群中发生率极高，诊断和管理也特别复杂。这些疾病的诊断技术包括罕见疾病基因检测（包括次世代定序(NGS)）、生物标记分析、新生儿筛检和分子诊断技术，以确保准确识别和有效管理。

从专业角度来看，分子遗传检测继续占据主导地位，成为主要

分子遗传学检测日益普及，主要原因在于它能够为罕见疾病患者及其家庭提供重要的遗传咨询和计划生育资讯。透过检测特定的基因突变，罕见疾病基因检测可以帮助家庭了解疾病的遗传性，并评估疾病遗传给后代的风险。此外，这些检测在新生儿遗传疾病的识别中也发挥关键作用，有助于早期疗育和及时治疗，从而改善健康状况。

从特征来看，遗传特征部分预计将出现最高成长

遗传性状是指透过DNA从父母遗传给子女的基因特征或疾病。这些性状源自于某些基因的变异或突变，并可能增加某些罕见疾病的风险。罕见疾病基因检测在识别这些遗传突变方面发挥着至关重要的作用，有助于早期诊断、风险评估以及为患者及其家人提供适当的医疗决策。

从技术角度来看，次世代定序（NGS）将在预测期内实现最高成长

NGS技术的主要优势在于能够高灵敏度和高准确度地检测单核苷酸变异（SNV）、插入、缺失和结构重排等基因变异。 NGS在罕见疾病基因检测中发挥重要作用，透过全面的基因组分析实现精准诊断。此外，NGS也应用于非侵入性产前检测（NIPT），有助于检测与某些罕见遗传疾病相关的胎儿染色体异常，从而促进早期疗育和医疗决策。

中国罕见疾病基因检测市场的成长动力源自于人口基数高、罕见疾病高发生率、政策环境持续改善，以及政府主导的旨在加强诊疗领域合作的措施和伙伴关係。此外，印度和澳洲等国家预计在预测期内也将出现显着的市场成长，这主要得益于人们对罕见疾病认识的不断提高、医疗基础设施的不断发展以及基因检测技术的进步。

本报告调查了全球罕见疾病基因检测市场，并总结了主要趋势、影响市场的因素分析、法律制度、临床试验趋势、市场规模趋势和预测、各个细分市场、地区/主要国家的详细分析、竞争格局和主要企业的概况。

目录

执行摘要

第一章 全球罕见疾病基因检测市场概况

  • 市场展望
  • 产业展望
    • 市场概况与生态系统
    • 资金筹措方案
    • 专利分析
    • 监管状况/合规性
  • 市场动态
    • 市场机会和趋势
    • 市场驱动因素
    • 市场限制

第二章 全球罕见疾病基因检测市场（依疾病类型）

  • 概述
  • 消化系统疾病
  • 内分泌和代谢紊乱
  • 心血管疾病
  • 神经系统疾病
  • 血液疾病和肿瘤疾病
  • 皮肤病
  • 其他的

第三章 全球罕见疾病基因检测市场（依产品提供）

  • 概述
  • 产品
  • 服务

第四章 全球罕见疾病基因检测市场（依专业）

  • 概述
  • 分子遗传学检测
  • 染色体基因检测
  • 生化基因检测

第五章 全球罕见疾病基因检测市场（依样本类型）

  • 概述
  • DNA样本
  • 口腔拭子样本
  • 血液样本
  • 唾液样本
  • 其他的

6. 全球罕见疾病基因检测市场（依特征类型）

  • 概述
  • 遗传特征
  • 获得性特征

7. 全球罕见疾病基因检测市场（依技术）

  • 概述
  • 聚合酵素链锁反应（PCR）
  • 次世代定序（NGS）
    • 全基因组序列分析
    • 全EXOME定序
  • 微阵列
  • 桑格定序
  • 其他的

8. 全球罕见疾病基因检测市场（依年龄层）

  • 概述
  • 产前
  • 新生儿和婴儿
  • 儿童和青少年
  • 成人

第九章 全球罕见疾病基因检测市场（依最终用户划分）

  • 概述
  • 医院
  • 诊断实验室
  • 其他的

第十章 全球罕见疾病基因检测市场（按地区）

  • 市场概览
    • 北美洲
    • 欧洲
    • 亚太地区
    • 拉丁美洲
    • 其他地区

第 11 章全球罕见疾病基因检测市场：竞争基准化分析与公司概况

  • 竞争基准化分析
  • 成长占有率矩阵
  • 竞争格局
  • 公司简介
    • 23andMe Inc.
    • 3 billion, Inc.
    • Agilent Technologies, Inc.
    • Azenta US, Inc. (GENEWIZ, Inc.)
    • BGI Group
    • CENTOGENE NV
    • 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.

第十二章调查方法

Product Code: BHP0644SD

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

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