罕见疾病基因检测市场：依技术、检测类型、最终用户、应用和适应症划分－全球预测，2025-2032年

预计到 2032 年，罕见疾病基因检测市场规模将达到 52.9 亿美元，复合年增长率为 16.70%。

关键市场统计数据
基准年 2024	15.4亿美元
预计年份：2025年	17.9亿美元
预测年份 2032	52.9亿美元
复合年增长率 (%)	16.70%

罕见疾病基因检测的策略方向：基于技术成熟度、临床应用压力和相关人员优先事项的框架

罕见疾病基因检测处于快速技术创新、不断演进的临床通讯协定以及患者和临床医生对精准诊断日益增长的期望的交汇点。本文概述了影响诊断、临床和研究生态系统中相关人员策略和投资决策的关键因素。主要驱动因素包括定序平台的成熟、基因组数据在临床工作流程中的整合，以及对罕见疾病族群早期、更精准诊断的日益重视。

这一领域的特征是检测方式和应用范围的不断扩大，因此需要与实验室资讯系统、法规遵循和报销途径进行整合。随着创新降低技术门槛，诊断产量、週转时间和与临床路径的契合度越来越成为选择检测方法的主要驱动因素。因此，本导言旨在为读者提供后续分析的结构性因素和营运重点，并预示报告将如何探讨技术选择、应用领域和最终用户需求。

技术进步、整合的临床工作流程和主导伙伴关係如何重塑罕见疾病基因检测的提供和应用？

罕见疾病基因检测领域正经历着一场变革性的转变，其驱动力来自于平台创新、贯穿整个诊疗流程的整合以及新型证据生成模式的涌现。次世代定序平台不断拓展诊断的整体性，而微阵列和聚合酵素链锁反应）检测在需要进行标靶性强、成本效益高的检测时发挥着至关重要的作用。同时，生物资讯流程和变异解读框架也在不断发展，旨在提供更快速、更具临床指导意义的报告，并减少临床医生和患者的困惑。

诊断实验室正在采用混合工作流程，将广泛的基因组筛检与标靶确认检测相结合；专科诊所也在医疗团队中引入遗传咨询师，以改善患者预后。在支付方方面，基于价值的讨论正在推动报销机制向那些能够显着缩短诊断时间或提供有效治疗方法方案的诊断方法倾斜。因此，整个产业正在加速技术提供者、临床网路和研究机构之间的合作，以扩大证据产生规模、规范报告流程并降低临床服务风险。

2025年美国关税调整对罕见疾病基因检测相关人员的供应链、采购和成本动态的营运和策略影响

美国计划在2025年前实施关税，这为罕见疾病基因检测供应链中的相关机构带来了一系列营运和策略方面的考量。关税可能会改变进口试剂、定序设备和辅助检测耗材的相对成本结构，进而挤压诊断实验室和製造商的利润空间。这些压力将促使相关人员重新评估筹资策略、合约条款和库存政策，以维持服务的连续性和成本竞争力。

为此，优化供应链将成为管理工作的核心。各组织将加快对替代供应商的资格审核，优先发展区域製造伙伴关係关係，并增加关键试剂和组件的储备库存。这些调整将影响采购前置作业时间、营运成本和价格谈判。此外，关税主导的成本转移将透过改变最终用户和支付方的检测交货，影响临床应用模式，进而可能影响医院、专科诊所和诊断实验室的经济效益。中期来看，关税环境将鼓励对国内生产进行策略性投资，并推动关键製造活动的在地化，以增强抵御能力并降低跨境政策波动带来的风险。

透过对技术、检测方式、最终用户、应用和疾病适应症进行全面细分，主导这些细分洞察，可以製定精准的市场策略。

在罕见疾病基因检测领域，了解技术细分对于目标产品开发、商业策略和临床整合至关重要。技术细分将微阵列、次世代定序和聚合酵素链锁反应)区分为三大核心平台类别。在次世代定序仪中，不同的方法路径，例如连接定序和合成定序，都会影响通量、读长和平台特异性化学反应。聚合酵素链锁反应)仍然是标靶检测的关键技术，分为数位 PCR 和定量 PCR，它们提供不同的灵敏度和定量结果，适用于确诊检测和监测。

依检测类型细分可进一步细化临床和商业性定位，其中EXOME定序、基因组定序、基因检测组合和单基因检测构成主要类别。EXOME定序分为临床外EXOME和研究性外显子定序。临床外显子定序着重于临床层级的解读，而研究性外显子定EXOME则着重于更广泛的探索性发现。基因组定序区分标靶定序和全基因组定序，二者在资料量、解读复杂性和对意外观察的处理上有差异。基因检测组合反映了以疾病为中心的诊断路径，专门用于肿瘤、心血管和神经系统疾病的基因检测组合，而单基因检测在高主导、表型驱动的诊断场景中仍然具有重要意义。

最终使用者细分有助于明确实施和工作流程整合工作的重点。诊断实验室、医院、研究机构和专科诊所的采购週期、验证预期和实施限制各不相同。在医院内部，公立和私立部门的差异会影响预算弹性、采购时间表和报销环境。应用细分展示了临床用例，例如携带者筛检、诊断、新生儿筛检、产前筛检和研究应用。产前筛检进一步分为有创和非侵入性两种方法，这两种方法有不同的临床工作流程和咨询要求。疾病适应症细分突显了血液系统疾病、代谢性疾病、神经肌肉疾病和肿瘤等优先临床领域。代谢性疾病进一步分为酵素缺乏症和粒线体疾病，每种疾病都需要客製化的检测和解读策略。

这些细分视角的结合，能够制定有针对性的打入市场策略、产生临床证据，并集中精力与特定最终用户互动，同时还有助于优先考虑与每个细分市场的技术和临床要求相一致的监管途径、报销谈判和实验室检验计划。

美洲、欧洲、中东和非洲以及亚太地区的动态和战略考虑正在影响招聘、监管和供应链选择。

在罕见疾病基因检测生态系中，区域动态对临床应用模式、监管预期和供应链设计有显着影响。在美洲，人们高度重视将基因组诊断整合到医院和门诊病人诊疗流程中，公立和私立机构都在寻求临床效用和运作扩充性的证据。该地区还拥有强大的本土製造业和完善的诊断实验室网络，这会影响基因检测的应用时间表和伙伴关係机会。

欧洲、中东和非洲的管理体制和报销模式五花八门，需要针对特定区域的临床检验和卫生经济学证据。各国医疗保健体系的分散化使得企业必须制定量身定制的打入市场策略，并与当地诊断实验室和专科诊所合作，以应对不同的医疗覆盖政策和临床指南。在亚太地区，受公共卫生措施和私部门创新的双重推动，基因组学基础设施的投资正在加速成长。主要市场的不同应用驱动因素，例如一些地区专注于新生儿筛检和产前筛检项目，而另一些地区则专注于以研究主导的定序倡议，这为区域伙伴关係、技术转移和能力建设项目创造了机会。在所有地区，跨境合作、统一变异解读标准以及投资于人才培养是扩大服务覆盖范围和确保高品质临床应用的关键槓桿。

竞争格局分析着重于平台整合、生物资讯优势、临床证据生成以及营运扩充性，以实现市场差异化。

罕见疾病基因检测领域的竞争格局呈现出技术供应商、设备製造商、诊断实验室和临床服务供应商并存的局面。领先企业凭藉其平台性能、生物资讯能力以及在复杂诊断环境中支援应用的深度临床解读服务脱颖而出。平台提供者与诊断实验室之间的策略伙伴关係能够加速临床检验和规模化应用，而与研究机构的合作则有助于证据产生和新型应用的研发。

优先提供整合式解决方案的公司，例如结合强大的定序化学技术、可扩展的资讯学和精简的实验室工作流程，能够有效降低临床应用的阻力。同样，投资于品管系统、认证和临床决策支援工具的公司，能够满足医院采购流程和专科诊所的严格要求。专注于特定临床应用或高性价比确诊检测的市场参与企业，尤其是在已有报销途径或临床效用得到证实的情况下，更容易在目标诊疗路径中获得认可。总而言之，竞争优势取决于卓越技术、合规性、临床证据以及规模化服务营运能力之间的相互作用。

为产业领导者提供可操作的策略重点，以增强韧性、加速临床应用并展现罕见疾病基因检测的可衡量价值

业界领导者应采取一系列切实可行的优先事项，以增强罕见疾病基因检测的韧性，加速其应用，并最大限度地发挥其临床影响力。首先，投资于模组化、可互通的资讯学框架将有助于快速解读变异、实现跨机构资料共用，并确保符合不断发展的报告标准。其次，建立策略供应商关係和区域製造伙伴关係可以降低关税和供应链风险，同时提高采购的可预测性。第三，透过有针对性的前瞻性试验和真实世界证据倡议，优先开发临床证据，可以减少与支付方和医院采购委员会之间的障碍，并提高报销准备度。

领导者还应加强与临床终端用户的互动，将遗传咨询能力和临床医生教育计画纳入其中，以支持结果解读和后续护理。此外，针对公立和私立医院系统、研究机构和专科诊所的具体需求量身定制打入市场策略，可以提高转换率和营运协调性。最后，实施弹性价格设定模式和与临床结果相符的价值导向合约，可以使服务产品脱颖而出，支持广泛获取检测服务，同时展现对可衡量的患者获益的承诺。

采用透明且可复製的调查方法，结合主要相关人员访谈、二手文献综合和严谨的三角验证，提供经核实的市场洞察。

本报告的调查方法整合了多方面的证据，旨在对罕见疾病基因检测现状进行稳健且可重复的分析。主要研究包括对诊断实验室、医院、研究机构和专科诊所的相关人员进行结构化访谈，以及咨询平台和试剂生产商的专家。次要研究则整合了同侪审查文献、监管指导文件和临床实践指南，以记录技术性能、临床效用和实施限制。

分析方法采用基于细分的策略，考察了技术、检测类型、最终用户、应用和适应症等方面的差异。区域分析是基于政策审查和相关人员的意见，以捕捉监管和报销方面的细微差别。调查结果与一手访谈和二手资料进行三角验证，以确保洞察既反映实际营运情况，也反映新兴趋势。资料检验过程包括与多位专家最后覆核，并透过补充研究协调相互矛盾的讯息，最终得出平衡且有理有据的结论，为策略决策提供支持。

整合策略要务、营运风险缓解和伙伴关係方式，以实现罕见疾病基因检测的临床应用前景

总之，罕见疾病基因检测正处于曲折点，技术成熟度与不断变化的临床预期以及日益严格的供应链监管相融合。平台创新、更完善的解读框架以及有针对性的证据生成共同推动了临床应用的广泛普及，而监管和报销的复杂性则要求制定细緻入微、因地制宜的策略。关税相关的压力带来了短期和中期的管理挑战，但也为本地化和供应链多元化提供了长期机会。

决策者应考虑双管齐下：一方面加强内部能力，例如资讯学、品质系统和临床参与；另一方面建立外部伙伴关係关係，以加速检验和市场准入。将产品开发和商业策略与不同技术、检测类型、最终用户和适应症的细緻需求相匹配，有助于企业优先掌握高影响力机会并降低执行风险。能够将卓越的科学实力与务实的营运方法结合，并清晰展现临床价值的企业，将在此方面占据优势。

目录

第一章：序言

第二章调查方法

第三章执行摘要

第四章 市场概览

第五章 市场洞察

• 将单细胞定序技术整合到罕见疾病早期基因诊断中，以检测嵌合体和复杂突变
• 利用基于 CRISPR 的即时基因检测技术扩大新生儿筛检范围，以早期发现罕见疾病
• 扩大学术研究中心与生物製药公司之间的合作，以开发针对罕见疾病的基因疗法
• 引入人工智慧驱动的突变解读平台，以减少复杂罕见疾病病例的诊断工作量
• 扩大以患者主导的基因数据共用平台，以加速新基因发现和个人化诊断
• 对药物基因组学罕见疾病检测的需求日益增长，这种检测旨在客製化罕见疾病药物选择并优化治疗效果。
• 监管方面的进展使得外EXOME和基因组定序作为儿科罕见疾病的第一线诊断检测方法得到更广泛的应用
• 在目标族群中实施多重数位PCR检测，以经济高效的方式筛检人突变
• 利用远端医疗扩大远距遗传咨询服务，以改善服务不足的罕见疾病患者的就医途径。
• 开发长读长定序技术以检测与难治性罕见神经系统疾病相关的结构突变

第六章：美国关税的累积影响，2025年

第七章：人工智慧的累积影响，2025年

第八章：依科技分類的罕见疾病基因检测市场

• 微阵列
• 次世代定序
  • 连接定定序
  • 合成定定序
• 聚合酵素链锁反应
  • 数位PCR
  • 定量PCR

第九章：罕见疾病基因检测市场（依检测类型划分）

• EXOME定序
  • 临床EXOME
  • 研究EXOME
• 基因组序列分析
  • 标靶基因组
  • 全基因组
• 小组测试
  • 癌症小组
  • 心血管专家组
  • 神经学检查
• 单基因检测

第十章：以最终用户分類的罕见疾病基因检测市场

• 诊断实验室
• 医院
  • 私立医院
  • 公立医院
• 研究所
• 专科诊所

第十一章 罕见疾病基因检测市场（依应用领域划分）

• 携带者筛检
• 诊断
• 新生儿筛检
• 产前筛检
  • 侵入性
  • 非侵入性
• 研究应用

第十二章：罕见疾病基因检测市场（依疾病适应症划分）

• 血液疾病
• 代谢紊乱
  • 酵素缺乏
  • 粒线体疾病
• 神经肌肉疾病
• 肿瘤学

第十三章：各地区罕见疾病基因检测市场

• 美洲
  • 北美洲
  • 拉丁美洲
• 欧洲、中东和非洲
  • 欧洲
  • 中东
  • 非洲
• 亚太地区

第十四章 罕见疾病基因检测市场（依群体划分）

• ASEAN
• GCC
• EU
• BRICS
• G7
• NATO

第十五章：各国罕见疾病基因检测市场

• 美国
• 加拿大
• 墨西哥
• 巴西
• 英国
• 德国
• 法国
• 俄罗斯
• 义大利
• 西班牙
• 中国
• 印度
• 日本
• 澳洲
• 韩国

第十六章 竞争格局

• 2024年市占率分析
• FPNV定位矩阵，2024
• 竞争分析
  • Illumina, Inc.
  • Thermo Fisher Scientific Inc.
  • F. Hoffmann-La Roche AG
  • QIAGEN NV
  • PerkinElmer, Inc.
  • Bio-Rad Laboratories, Inc.
  • Myriad Genetics, Inc.
  • Invitae Corporation
  • Natera, Inc.
  • Eurofins Scientific SE

The Rare Disease Genetic Testing Market is projected to grow by USD 5.29 billion at a CAGR of 16.70% by 2032.

KEY MARKET STATISTICS
Base Year [2024]	USD 1.54 billion
Estimated Year [2025]	USD 1.79 billion
Forecast Year [2032]	USD 5.29 billion
CAGR (%)	16.70%

A strategic orientation to the rare disease genetic testing landscape that frames technology maturation, clinical adoption pressures, and stakeholder priorities

Rare disease genetic testing sits at the intersection of rapid technological innovation, evolving clinical protocols, and growing expectations from patients and clinicians for precise diagnostics. This introduction frames the essential elements that shape strategy and investment decisions for stakeholders across the diagnostic, clinical, and research ecosystems. It outlines prevailing drivers such as the maturation of sequencing platforms, the integration of genomic data into clinical workflows, and the heightened emphasis on earlier and more accurate diagnosis for rare disease populations.

The landscape is defined by an expanding repertoire of test modalities and applications, which in turn demand integration with laboratory information systems, regulatory compliance frameworks, and reimbursement pathways. As innovations reduce technical barriers, adoption decisions hinge increasingly on diagnostic yield, turnaround time, and alignment with clinical pathways. This introduction therefore orients readers to the structural forces and operational priorities that inform subsequent analysis, setting expectations for how technological choices, application areas, and end-user needs will be explored in depth throughout the report.

How converging technological advances, integrated clinical workflows, and evidence-driven partnerships are reshaping rare disease genetic testing delivery and adoption

The rare disease genetic testing field is undergoing transformative shifts driven by platform innovation, integration across care pathways, and the emergence of new evidence-generation models. Next generation sequencing platforms are pushing the frontier of diagnostic comprehensiveness while microarray and polymerase chain reaction methods retain critical roles where targeted, cost-effective testing is needed. Concurrently, bioinformatics pipelines and variant interpretation frameworks are evolving to deliver faster, more clinically actionable reports, reducing ambiguity for clinicians and patients.

Operational transformations are also evident in how tests are delivered: diagnostic laboratories are adopting hybrid workflows that combine broad genomic screens with targeted confirmatory assays, and specialty clinics are embedding genetic counselors within care teams to improve patient outcomes. On the payer side, value-based conversations are shifting reimbursement toward diagnostics that demonstrably shorten diagnostic odysseys or enable effective therapeutic selection. As a result, the industry is witnessing an acceleration of partnerships across technology providers, clinical networks, and research institutions to scale evidence generation, standardize reporting, and de-risk clinical implementation pathways.

Operational and strategic consequences of the United States tariff changes in 2025 on supply chains, sourcing, and cost dynamics for rare disease genetic testing stakeholders

The prospect and implementation of tariffs in the United States during 2025 have introduced a series of operational and strategic considerations for organizations involved in rare disease genetic testing supply chains. Tariff measures can alter the relative cost structure of imported reagents, sequencing instruments, and ancillary laboratory consumables, creating margin pressures for diagnostic laboratories and manufacturers alike. These pressures incentivize stakeholders to reassess sourcing strategies, contract terms, and inventory policies to preserve service continuity and cost-competitiveness.

In response, supply chain optimization becomes a central management imperative. Organizations may accelerate qualification of alternative suppliers, prioritize regional manufacturing partnerships, or increase buffer inventories for critical reagents and components. These adjustments have implications for procurement lead times, working capital, and pricing negotiations. Moreover, tariff-driven cost shifts can influence clinical adoption patterns by changing the delivered price of tests to end users and payers, thereby affecting the economic calculus for hospitals, specialty clinics, and diagnostic laboratories. Over the medium term, the tariff environment also encourages strategic investment in domestic production and localization of key manufacturing activities to enhance resilience and reduce exposure to cross-border policy volatility.

Comprehensive segmentation-driven insights that align technology, test modalities, end users, applications, and disease indications to inform targeted market strategies

Understanding segmentation is essential for targeted product development, commercial strategy, and clinical integration in the rare disease genetic testing domain. Technology segmentation distinguishes microarray, next generation sequencing, and polymerase chain reaction as core platform categories. Within next generation sequencing there are distinct methodological pathways represented by sequencing by ligation and sequencing by synthesis, each of which impacts throughput, read length, and platform-specific chemistry considerations. Polymerase chain reaction remains indispensable for targeted assays and is split into digital PCR and quantitative PCR approaches, offering differing sensitivity and quantitation profiles that make them suitable for confirmatory testing or monitoring.

Test type segmentation further refines clinical and commercial positioning with exome sequencing, genome sequencing, panel tests, and single gene tests forming the principal categories. Exome sequencing divides into clinical exome and research exome modalities that emphasize clinical-grade interpretation versus broader exploratory discovery. Genome sequencing differentiates between targeted genome approaches and whole genome methodologies, which carry different implications for data volume, interpretation complexity, and incidental finding management. Panel tests are specialized into oncology, cardiovascular, and neurological panels, reflecting disease-focused diagnostic pathways, while single gene tests remain relevant for high-yield, phenotype-driven diagnostic scenarios.

End-user segmentation clarifies where adoption and workflow integration efforts should focus. Diagnostic laboratories, hospitals, research institutions, and specialty clinics each present distinct procurement cycles, validation expectations, and implementation constraints. Within hospitals, the split between private and public institutions influences budgetary flexibility, procurement timelines, and reimbursement environments. Application segmentation shows clinical use cases such as carrier screening, diagnostics, newborn screening, prenatal screening, and research applications, with prenatal screening further differentiated into invasive and non-invasive approaches that carry divergent clinical workflows and counseling requirements. Disease indication segmentation highlights hematological disorders, metabolic disorders, neuromuscular disorders, and oncology as prioritized clinical areas, with metabolic disorders further divided into enzyme deficiencies and mitochondrial disorders that require tailored testing and interpretation strategies.

Taken together, these segmentation lenses enable precise go-to-market strategies, tailored clinical evidence generation, and focused engagement with specific end-user audiences. They also inform prioritization of regulatory pathways, reimbursement negotiations, and laboratory validation programs that align with the technical and clinical requirements of each segment.

Regional dynamics and strategic considerations for Americas, Europe Middle East & Africa, and Asia-Pacific that shape adoption, regulation, and supply chain choices

Regional dynamics materially influence clinical adoption patterns, regulatory expectations, and supply chain design in the rare disease genetic testing ecosystem. In the Americas, there is a pronounced emphasis on integrating genomic diagnostics into hospital and outpatient care pathways, with both private and public institutions seeking evidence of clinical utility and operational scalability. This region also exhibits active domestic manufacturing and a dense network of diagnostic laboratories, which informs adoption timetables and partnership opportunities.

Europe, the Middle East & Africa presents a mosaic of regulatory regimes and reimbursement models that necessitate region-specific clinical validation and health-economic evidence. Fragmentation across national health systems requires tailored market entry strategies and collaborations with local diagnostic laboratories and specialty clinics to navigate differing coverage policies and clinical guidelines. In the Asia-Pacific region, investment in genomics infrastructure is accelerating, driven by both public health initiatives and private sector innovation. Diverse adoption drivers across major markets emphasize newborn and prenatal screening programs in some jurisdictions and research-driven sequencing initiatives in others, creating opportunities for localized partnerships, technology transfer, and capacity-building programs. Across all regions, cross-border collaborations, harmonized variant interpretation standards, and investments in workforce development are critical levers to expand access and ensure high-quality clinical implementation.

Competitive landscape analysis emphasizing platform integration, bioinformatics strength, clinical evidence generation, and operational scalability for market differentiation

Competitive dynamics in the rare disease genetic testing arena are characterized by a mix of technology vendors, instrument manufacturers, diagnostic laboratories, and clinical services providers. Leading players differentiate through platform performance, bioinformatics capabilities, and the depth of clinical interpretation services that support adoption in complex diagnostic settings. Strategic partnerships between platform providers and diagnostic laboratories accelerate clinical validation and scale, while collaborations with research institutions support evidence generation and pipeline development for emerging applications.

Companies that prioritize integrated offerings-combining robust sequencing chemistry, scalable informatics, and streamlined laboratory workflows-are positioned to reduce friction in clinical adoption. Similarly, organizations investing in quality management systems, accreditation, and clinician-facing decision support tools are better able to meet the stringent requirements of hospital procurement processes and specialty clinics. Market entrants that focus on niche clinical applications or on delivering cost-effective confirmatory assays can win adoption within targeted care pathways, particularly where reimbursement pathways exist or where clinical utility is demonstrable. Overall, competitive success depends on an interplay of technological excellence, regulatory compliance, clinical evidence, and the ability to operationalize services at scale.

Actionable strategic priorities for industry leaders to build resilience, accelerate clinical adoption, and demonstrate measurable value in rare disease genetic testing

Industry leaders should adopt a set of actionable priorities to strengthen resilience, accelerate adoption, and maximize clinical impact in rare disease genetic testing. First, investing in modular, interoperable informatics frameworks will facilitate rapid variant interpretation, cross-institutional data sharing, and compliance with evolving reporting standards. Second, establishing strategic supplier relationships and regional manufacturing partnerships can mitigate tariff and supply chain risks while improving procurement predictability. Third, prioritizing clinical evidence development through targeted prospective studies and real-world evidence initiatives will reduce barriers with payers and hospital procurement committees, thereby increasing reimbursement preparedness.

Leaders should also enhance engagement with clinical end users by embedding genetic counseling capacity and clinician education programs to support interpretation and downstream care. Additionally, tailoring go-to-market strategies to the specific requirements of private versus public hospital systems, as well as research institutions and specialty clinics, will improve conversion rates and operational alignment. Finally, implementing flexible pricing models and value-based agreements aligned to clinical outcomes can differentiate offerings and support broader access to testing services, while simultaneously demonstrating commitment to measurable patient benefit.

Transparent and reproducible methodology combining primary stakeholder interviews, secondary literature synthesis, and rigorous triangulation for defensible market insights

The research methodology underpinning this report integrates multiple evidence streams to produce a robust, reproducible analysis of the rare disease genetic testing environment. Primary research included structured interviews with stakeholders across diagnostic laboratories, hospitals, research institutions, and specialty clinics, combined with expert consultations with platform and reagent manufacturers. Secondary research synthesized peer-reviewed literature, regulatory guidance documents, and clinical practice guidelines to contextualize technology performance, clinical utility, and implementation constraints.

Analytical methods incorporated a segmentation-based approach to examine differences by technology, test type, end user, application, and disease indication. Regional analyses were informed by policy reviews and stakeholder input to capture regulatory and reimbursement nuances. Triangulation of findings across primary interviews and secondary sources ensured that insights reflect both operational realities and emerging trends. Data validation processes included cross-checks with multiple expert respondents and reconciliation of conflicting inputs through additional inquiry, yielding a balanced and defensible set of conclusions to support strategic decision-making.

Synthesis of strategic imperatives, operational risk mitigation, and partnership approaches to realize the clinical promise of rare disease genetic testing

In conclusion, rare disease genetic testing is at an inflection point where technological maturity converges with evolving clinical expectations and heightened supply chain scrutiny. The combined effect of platform innovation, more sophisticated interpretation frameworks, and targeted evidence generation is expanding clinical uptake, while regulatory and reimbursement complexities necessitate nuanced, region-specific strategies. Tariff-related pressures introduce short- to medium-term operational challenges but also surface longer-term opportunities for localization and supply chain diversification.

Decision-makers should consider a dual focus on strengthening internal capabilities-such as informatics, quality systems, and clinical engagement-and on forging external partnerships that accelerate validation and market access. By aligning product development and commercial strategies to the segmented needs of different technologies, test types, end users, and disease indications, organizations can prioritize high-impact opportunities and mitigate execution risk. The trajectory of the field favors those who can harmonize scientific excellence with pragmatic operational approaches and clear demonstration of clinical value.

Table of Contents

1. Preface

• 1.1. Objectives of the Study
• 1.2. Market Segmentation & Coverage
• 1.3. Years Considered for the Study
• 1.4. Currency & Pricing
• 1.5. Language
• 1.6. Stakeholders

2. Research Methodology

3. Executive Summary

4. Market Overview

5. Market Insights

• 5.1. Integration of single-cell sequencing in early rare disease genetic diagnostics to uncover mosaicism and complex mutations
• 5.2. Expansion of newborn screening panels using CRISPR-based point-of-care genetic testing for early rare disease detection
• 5.3. Growing collaborations between academic research centers and biopharma for gene therapy development in ultra-rare disorders
• 5.4. Adoption of AI-driven variant interpretation platforms to reduce diagnostic odyssey in complex rare disease cases
• 5.5. Increasing patient-led genetic data sharing platforms to accelerate novel gene discovery and personalized diagnostics
• 5.6. Rising demand for pharmacogenomic rare disease testing to tailor orphan drug selection and optimize treatment outcomes
• 5.7. Regulatory advances enabling wider access to exome and genome sequencing as first-tier diagnostic tests in pediatric rare diseases
• 5.8. Implementation of multiplex digital PCR assays for cost-effective population screening of founder mutations in targeted communities
• 5.9. Expansion of remote genetic counseling services leveraging telehealth to improve patient access in underserved rare disease populations
• 5.10. Development of long-read sequencing technologies to detect structural variants implicated in challenging rare neurological disorders

6. Cumulative Impact of United States Tariffs 2025

7. Cumulative Impact of Artificial Intelligence 2025

8. Rare Disease Genetic Testing Market, by Technology

• 8.1. Microarray
• 8.2. Next Generation Sequencing
  • 8.2.1. Sequencing By Ligation
  • 8.2.2. Sequencing By Synthesis
• 8.3. Polymerase Chain Reaction
  • 8.3.1. Digital PCR
  • 8.3.2. Quantitative PCR

9. Rare Disease Genetic Testing Market, by Test Type

• 9.1. Exome Sequencing
  • 9.1.1. Clinical Exome
  • 9.1.2. Research Exome
• 9.2. Genome Sequencing
  • 9.2.1. Targeted Genome
  • 9.2.2. Whole Genome
• 9.3. Panel Test
  • 9.3.1. Cancer Panels
  • 9.3.2. Cardiovascular Panels
  • 9.3.3. Neurological Panels
• 9.4. Single Gene Test

10. Rare Disease Genetic Testing Market, by End User

• 10.1. Diagnostic Laboratories
• 10.2. Hospitals
  • 10.2.1. Private Hospitals
  • 10.2.2. Public Hospitals
• 10.3. Research Institutions
• 10.4. Specialty Clinics

11. Rare Disease Genetic Testing Market, by Application

• 11.1. Carrier Screening
• 11.2. Diagnostics
• 11.3. Newborn Screening
• 11.4. Prenatal Screening
  • 11.4.1. Invasive
  • 11.4.2. Non Invasive
• 11.5. Research Applications

12. Rare Disease Genetic Testing Market, by Disease Indication

• 12.1. Hematological Disorders
• 12.2. Metabolic Disorders
  • 12.2.1. Enzyme Deficiencies
  • 12.2.2. Mitochondrial Disorders
• 12.3. Neuromuscular Disorders
• 12.4. Oncology

13. Rare Disease Genetic Testing Market, by Region

• 13.1. Americas
  • 13.1.1. North America
  • 13.1.2. Latin America
• 13.2. Europe, Middle East & Africa
  • 13.2.1. Europe
  • 13.2.2. Middle East
  • 13.2.3. Africa
• 13.3. Asia-Pacific

14. Rare Disease Genetic Testing Market, by Group

• 14.1. ASEAN
• 14.2. GCC
• 14.3. European Union
• 14.4. BRICS
• 14.5. G7
• 14.6. NATO

15. Rare Disease Genetic Testing Market, by Country

• 15.1. United States
• 15.2. Canada
• 15.3. Mexico
• 15.4. Brazil
• 15.5. United Kingdom
• 15.6. Germany
• 15.7. France
• 15.8. Russia
• 15.9. Italy
• 15.10. Spain
• 15.11. China
• 15.12. India
• 15.13. Japan
• 15.14. Australia
• 15.15. South Korea

16. Competitive Landscape

• 16.1. Market Share Analysis, 2024
• 16.2. FPNV Positioning Matrix, 2024
• 16.3. Competitive Analysis
  • 16.3.1. Illumina, Inc.
  • 16.3.2. Thermo Fisher Scientific Inc.
  • 16.3.3. F. Hoffmann-La Roche AG
  • 16.3.4. QIAGEN N.V.
  • 16.3.5. PerkinElmer, Inc.
  • 16.3.6. Bio-Rad Laboratories, Inc.
  • 16.3.7. Myriad Genetics, Inc.
  • 16.3.8. Invitae Corporation
  • 16.3.9. Natera, Inc.
  • 16.3.10. Eurofins Scientific SE

LIST OF FIGURES

• FIGURE 1. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, 2018-2032 (USD MILLION)
• FIGURE 2. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY TECHNOLOGY, 2024 VS 2032 (%)
• FIGURE 3. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY TECHNOLOGY, 2024 VS 2025 VS 2032 (USD MILLION)
• FIGURE 4. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY TEST TYPE, 2024 VS 2032 (%)
• FIGURE 5. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY TEST TYPE, 2024 VS 2025 VS 2032 (USD MILLION)
• FIGURE 6. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY END USER, 2024 VS 2032 (%)
• FIGURE 7. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY END USER, 2024 VS 2025 VS 2032 (USD MILLION)
• FIGURE 8. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY APPLICATION, 2024 VS 2032 (%)
• FIGURE 9. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY APPLICATION, 2024 VS 2025 VS 2032 (USD MILLION)
• FIGURE 10. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY DISEASE INDICATION, 2024 VS 2032 (%)
• FIGURE 11. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY DISEASE INDICATION, 2024 VS 2025 VS 2032 (USD MILLION)
• FIGURE 12. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY REGION, 2024 VS 2025 VS 2032 (USD MILLION)
• FIGURE 13. AMERICAS RARE DISEASE GENETIC TESTING MARKET SIZE, BY SUBREGION, 2024 VS 2025 VS 2032 (USD MILLION)
• FIGURE 14. NORTH AMERICA RARE DISEASE GENETIC TESTING MARKET SIZE, BY COUNTRY, 2024 VS 2025 VS 2032 (USD MILLION)
• FIGURE 15. LATIN AMERICA RARE DISEASE GENETIC TESTING MARKET SIZE, BY COUNTRY, 2024 VS 2025 VS 2032 (USD MILLION)
• FIGURE 16. EUROPE, MIDDLE EAST & AFRICA RARE DISEASE GENETIC TESTING MARKET SIZE, BY SUBREGION, 2024 VS 2025 VS 2032 (USD MILLION)
• FIGURE 17. EUROPE RARE DISEASE GENETIC TESTING MARKET SIZE, BY COUNTRY, 2024 VS 2025 VS 2032 (USD MILLION)
• FIGURE 18. MIDDLE EAST RARE DISEASE GENETIC TESTING MARKET SIZE, BY COUNTRY, 2024 VS 2025 VS 2032 (USD MILLION)
• FIGURE 19. AFRICA RARE DISEASE GENETIC TESTING MARKET SIZE, BY COUNTRY, 2024 VS 2025 VS 2032 (USD MILLION)
• FIGURE 20. ASIA-PACIFIC RARE DISEASE GENETIC TESTING MARKET SIZE, BY COUNTRY, 2024 VS 2025 VS 2032 (USD MILLION)
• FIGURE 21. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY GROUP, 2024 VS 2025 VS 2032 (USD MILLION)
• FIGURE 22. ASEAN RARE DISEASE GENETIC TESTING MARKET SIZE, BY COUNTRY, 2024 VS 2025 VS 2032 (USD MILLION)
• FIGURE 23. GCC RARE DISEASE GENETIC TESTING MARKET SIZE, BY COUNTRY, 2024 VS 2025 VS 2032 (USD MILLION)
• FIGURE 24. EUROPEAN UNION RARE DISEASE GENETIC TESTING MARKET SIZE, BY COUNTRY, 2024 VS 2025 VS 2032 (USD MILLION)
• FIGURE 25. BRICS RARE DISEASE GENETIC TESTING MARKET SIZE, BY COUNTRY, 2024 VS 2025 VS 2032 (USD MILLION)
• FIGURE 26. G7 RARE DISEASE GENETIC TESTING MARKET SIZE, BY COUNTRY, 2024 VS 2025 VS 2032 (USD MILLION)
• FIGURE 27. NATO RARE DISEASE GENETIC TESTING MARKET SIZE, BY COUNTRY, 2024 VS 2025 VS 2032 (USD MILLION)
• FIGURE 28. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY COUNTRY, 2024 VS 2025 VS 2032 (USD MILLION)
• FIGURE 29. RARE DISEASE GENETIC TESTING MARKET SHARE, BY KEY PLAYER, 2024
• FIGURE 30. RARE DISEASE GENETIC TESTING MARKET, FPNV POSITIONING MATRIX, 2024

LIST OF TABLES

• TABLE 1. RARE DISEASE GENETIC TESTING MARKET SEGMENTATION & COVERAGE
• TABLE 2. UNITED STATES DOLLAR EXCHANGE RATE, 2018-2024
• TABLE 3. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, 2018-2024 (USD MILLION)
• TABLE 4. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, 2025-2032 (USD MILLION)
• TABLE 5. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY TECHNOLOGY, 2018-2024 (USD MILLION)
• TABLE 6. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY TECHNOLOGY, 2025-2032 (USD MILLION)
• TABLE 7. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY MICROARRAY, BY REGION, 2018-2024 (USD MILLION)
• TABLE 8. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY MICROARRAY, BY REGION, 2025-2032 (USD MILLION)
• TABLE 9. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY MICROARRAY, BY GROUP, 2018-2024 (USD MILLION)
• TABLE 10. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY MICROARRAY, BY GROUP, 2025-2032 (USD MILLION)
• TABLE 11. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY MICROARRAY, BY COUNTRY, 2018-2024 (USD MILLION)
• TABLE 12. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY MICROARRAY, BY COUNTRY, 2025-2032 (USD MILLION)
• TABLE 13. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY NEXT GENERATION SEQUENCING, 2018-2024 (USD MILLION)
• TABLE 14. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY NEXT GENERATION SEQUENCING, 2025-2032 (USD MILLION)
• TABLE 15. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY NEXT GENERATION SEQUENCING, BY REGION, 2018-2024 (USD MILLION)
• TABLE 16. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY NEXT GENERATION SEQUENCING, BY REGION, 2025-2032 (USD MILLION)
• TABLE 17. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY NEXT GENERATION SEQUENCING, BY GROUP, 2018-2024 (USD MILLION)
• TABLE 18. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY NEXT GENERATION SEQUENCING, BY GROUP, 2025-2032 (USD MILLION)
• TABLE 19. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY NEXT GENERATION SEQUENCING, BY COUNTRY, 2018-2024 (USD MILLION)
• TABLE 20. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY NEXT GENERATION SEQUENCING, BY COUNTRY, 2025-2032 (USD MILLION)
• TABLE 21. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY SEQUENCING BY LIGATION, BY REGION, 2018-2024 (USD MILLION)
• TABLE 22. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY SEQUENCING BY LIGATION, BY REGION, 2025-2032 (USD MILLION)
• TABLE 23. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY SEQUENCING BY LIGATION, BY GROUP, 2018-2024 (USD MILLION)
• TABLE 24. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY SEQUENCING BY LIGATION, BY GROUP, 2025-2032 (USD MILLION)
• TABLE 25. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY SEQUENCING BY LIGATION, BY COUNTRY, 2018-2024 (USD MILLION)
• TABLE 26. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY SEQUENCING BY LIGATION, BY COUNTRY, 2025-2032 (USD MILLION)
• TABLE 27. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY SEQUENCING BY SYNTHESIS, BY REGION, 2018-2024 (USD MILLION)
• TABLE 28. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY SEQUENCING BY SYNTHESIS, BY REGION, 2025-2032 (USD MILLION)
• TABLE 29. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY SEQUENCING BY SYNTHESIS, BY GROUP, 2018-2024 (USD MILLION)
• TABLE 30. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY SEQUENCING BY SYNTHESIS, BY GROUP, 2025-2032 (USD MILLION)
• TABLE 31. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY SEQUENCING BY SYNTHESIS, BY COUNTRY, 2018-2024 (USD MILLION)
• TABLE 32. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY SEQUENCING BY SYNTHESIS, BY COUNTRY, 2025-2032 (USD MILLION)
• TABLE 33. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY POLYMERASE CHAIN REACTION, 2018-2024 (USD MILLION)
• TABLE 34. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY POLYMERASE CHAIN REACTION, 2025-2032 (USD MILLION)
• TABLE 35. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY POLYMERASE CHAIN REACTION, BY REGION, 2018-2024 (USD MILLION)
• TABLE 36. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY POLYMERASE CHAIN REACTION, BY REGION, 2025-2032 (USD MILLION)
• TABLE 37. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY POLYMERASE CHAIN REACTION, BY GROUP, 2018-2024 (USD MILLION)
• TABLE 38. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY POLYMERASE CHAIN REACTION, BY GROUP, 2025-2032 (USD MILLION)
• TABLE 39. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY POLYMERASE CHAIN REACTION, BY COUNTRY, 2018-2024 (USD MILLION)
• TABLE 40. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY POLYMERASE CHAIN REACTION, BY COUNTRY, 2025-2032 (USD MILLION)
• TABLE 41. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY DIGITAL PCR, BY REGION, 2018-2024 (USD MILLION)
• TABLE 42. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY DIGITAL PCR, BY REGION, 2025-2032 (USD MILLION)
• TABLE 43. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY DIGITAL PCR, BY GROUP, 2018-2024 (USD MILLION)
• TABLE 44. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY DIGITAL PCR, BY GROUP, 2025-2032 (USD MILLION)
• TABLE 45. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY DIGITAL PCR, BY COUNTRY, 2018-2024 (USD MILLION)
• TABLE 46. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY DIGITAL PCR, BY COUNTRY, 2025-2032 (USD MILLION)
• TABLE 47. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY QUANTITATIVE PCR, BY REGION, 2018-2024 (USD MILLION)
• TABLE 48. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY QUANTITATIVE PCR, BY REGION, 2025-2032 (USD MILLION)
• TABLE 49. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY QUANTITATIVE PCR, BY GROUP, 2018-2024 (USD MILLION)
• TABLE 50. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY QUANTITATIVE PCR, BY GROUP, 2025-2032 (USD MILLION)
• TABLE 51. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY QUANTITATIVE PCR, BY COUNTRY, 2018-2024 (USD MILLION)
• TABLE 52. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY QUANTITATIVE PCR, BY COUNTRY, 2025-2032 (USD MILLION)
• TABLE 53. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY TEST TYPE, 2018-2024 (USD MILLION)
• TABLE 54. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY TEST TYPE, 2025-2032 (USD MILLION)
• TABLE 55. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY EXOME SEQUENCING, 2018-2024 (USD MILLION)
• TABLE 56. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY EXOME SEQUENCING, 2025-2032 (USD MILLION)
• TABLE 57. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY EXOME SEQUENCING, BY REGION, 2018-2024 (USD MILLION)
• TABLE 58. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY EXOME SEQUENCING, BY REGION, 2025-2032 (USD MILLION)
• TABLE 59. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY EXOME SEQUENCING, BY GROUP, 2018-2024 (USD MILLION)
• TABLE 60. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY EXOME SEQUENCING, BY GROUP, 2025-2032 (USD MILLION)
• TABLE 61. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY EXOME SEQUENCING, BY COUNTRY, 2018-2024 (USD MILLION)
• TABLE 62. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY EXOME SEQUENCING, BY COUNTRY, 2025-2032 (USD MILLION)
• TABLE 63. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY CLINICAL EXOME, BY REGION, 2018-2024 (USD MILLION)
• TABLE 64. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY CLINICAL EXOME, BY REGION, 2025-2032 (USD MILLION)
• TABLE 65. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY CLINICAL EXOME, BY GROUP, 2018-2024 (USD MILLION)
• TABLE 66. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY CLINICAL EXOME, BY GROUP, 2025-2032 (USD MILLION)
• TABLE 67. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY CLINICAL EXOME, BY COUNTRY, 2018-2024 (USD MILLION)
• TABLE 68. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY CLINICAL EXOME, BY COUNTRY, 2025-2032 (USD MILLION)
• TABLE 69. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY RESEARCH EXOME, BY REGION, 2018-2024 (USD MILLION)
• TABLE 70. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY RESEARCH EXOME, BY REGION, 2025-2032 (USD MILLION)
• TABLE 71. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY RESEARCH EXOME, BY GROUP, 2018-2024 (USD MILLION)
• TABLE 72. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY RESEARCH EXOME, BY GROUP, 2025-2032 (USD MILLION)
• TABLE 73. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY RESEARCH EXOME, BY COUNTRY, 2018-2024 (USD MILLION)
• TABLE 74. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY RESEARCH EXOME, BY COUNTRY, 2025-2032 (USD MILLION)
• TABLE 75. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY GENOME SEQUENCING, 2018-2024 (USD MILLION)
• TABLE 76. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY GENOME SEQUENCING, 2025-2032 (USD MILLION)
• TABLE 77. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY GENOME SEQUENCING, BY REGION, 2018-2024 (USD MILLION)
• TABLE 78. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY GENOME SEQUENCING, BY REGION, 2025-2032 (USD MILLION)
• TABLE 79. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY GENOME SEQUENCING, BY GROUP, 2018-2024 (USD MILLION)
• TABLE 80. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY GENOME SEQUENCING, BY GROUP, 2025-2032 (USD MILLION)
• TABLE 81. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY GENOME SEQUENCING, BY COUNTRY, 2018-2024 (USD MILLION)
• TABLE 82. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY GENOME SEQUENCING, BY COUNTRY, 2025-2032 (USD MILLION)
• TABLE 83. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY TARGETED GENOME, BY REGION, 2018-2024 (USD MILLION)
• TABLE 84. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY TARGETED GENOME, BY REGION, 2025-2032 (USD MILLION)
• TABLE 85. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY TARGETED GENOME, BY GROUP, 2018-2024 (USD MILLION)
• TABLE 86. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY TARGETED GENOME, BY GROUP, 2025-2032 (USD MILLION)
• TABLE 87. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY TARGETED GENOME, BY COUNTRY, 2018-2024 (USD MILLION)
• TABLE 88. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY TARGETED GENOME, BY COUNTRY, 2025-2032 (USD MILLION)
• TABLE 89. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY WHOLE GENOME, BY REGION, 2018-2024 (USD MILLION)
• TABLE 90. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY WHOLE GENOME, BY REGION, 2025-2032 (USD MILLION)
• TABLE 91. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY WHOLE GENOME, BY GROUP, 2018-2024 (USD MILLION)
• TABLE 92. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY WHOLE GENOME, BY GROUP, 2025-2032 (USD MILLION)
• TABLE 93. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY WHOLE GENOME, BY COUNTRY, 2018-2024 (USD MILLION)
• TABLE 94. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY WHOLE GENOME, BY COUNTRY, 2025-2032 (USD MILLION)
• TABLE 95. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY PANEL TEST, 2018-2024 (USD MILLION)
• TABLE 96. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY PANEL TEST, 2025-2032 (USD MILLION)
• TABLE 97. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY PANEL TEST, BY REGION, 2018-2024 (USD MILLION)
• TABLE 98. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY PANEL TEST, BY REGION, 2025-2032 (USD MILLION)
• TABLE 99. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY PANEL TEST, BY GROUP, 2018-2024 (USD MILLION)
• TABLE 100. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY PANEL TEST, BY GROUP, 2025-2032 (USD MILLION)
• TABLE 101. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY PANEL TEST, BY COUNTRY, 2018-2024 (USD MILLION)
• TABLE 102. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY PANEL TEST, BY COUNTRY, 2025-2032 (USD MILLION)
• TABLE 103. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY CANCER PANELS, BY REGION, 2018-2024 (USD MILLION)
• TABLE 104. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY CANCER PANELS, BY REGION, 2025-2032 (USD MILLION)
• TABLE 105. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY CANCER PANELS, BY GROUP, 2018-2024 (USD MILLION)
• TABLE 106. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY CANCER PANELS, BY GROUP, 2025-2032 (USD MILLION)
• TABLE 107. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY CANCER PANELS, BY COUNTRY, 2018-2024 (USD MILLION)
• TABLE 108. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY CANCER PANELS, BY COUNTRY, 2025-2032 (USD MILLION)
• TABLE 109. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY CARDIOVASCULAR PANELS, BY REGION, 2018-2024 (USD MILLION)
• TABLE 110. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY CARDIOVASCULAR PANELS, BY REGION, 2025-2032 (USD MILLION)
• TABLE 111. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY CARDIOVASCULAR PANELS, BY GROUP, 2018-2024 (USD MILLION)
• TABLE 112. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY CARDIOVASCULAR PANELS, BY GROUP, 2025-2032 (USD MILLION)
• TABLE 113. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY CARDIOVASCULAR PANELS, BY COUNTRY, 2018-2024 (USD MILLION)
• TABLE 114. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY CARDIOVASCULAR PANELS, BY COUNTRY, 2025-2032 (USD MILLION)
• TABLE 115. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY NEUROLOGICAL PANELS, BY REGION, 2018-2024 (USD MILLION)
• TABLE 116. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY NEUROLOGICAL PANELS, BY REGION, 2025-2032 (USD MILLION)
• TABLE 117. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY NEUROLOGICAL PANELS, BY GROUP, 2018-2024 (USD MILLION)
• TABLE 118. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY NEUROLOGICAL PANELS, BY GROUP, 2025-2032 (USD MILLION)
• TABLE 119. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY NEUROLOGICAL PANELS, BY COUNTRY, 2018-2024 (USD MILLION)
• TABLE 120. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY NEUROLOGICAL PANELS, BY COUNTRY, 2025-2032 (USD MILLION)
• TABLE 121. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY SINGLE GENE TEST, BY REGION, 2018-2024 (USD MILLION)
• TABLE 122. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY SINGLE GENE TEST, BY REGION, 2025-2032 (USD MILLION)
• TABLE 123. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY SINGLE GENE TEST, BY GROUP, 2018-2024 (USD MILLION)
• TABLE 124. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY SINGLE GENE TEST, BY GROUP, 2025-2032 (USD MILLION)
• TABLE 125. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY SINGLE GENE TEST, BY COUNTRY, 2018-2024 (USD MILLION)
• TABLE 126. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY SINGLE GENE TEST, BY COUNTRY, 2025-2032 (USD MILLION)
• TABLE 127. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY END USER, 2018-2024 (USD MILLION)
• TABLE 128. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY END USER, 2025-2032 (USD MILLION)
• TABLE 129. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY DIAGNOSTIC LABORATORIES, BY REGION, 2018-2024 (USD MILLION)
• TABLE 130. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY DIAGNOSTIC LABORATORIES, BY REGION, 2025-2032 (USD MILLION)
• TABLE 131. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY DIAGNOSTIC LABORATORIES, BY GROUP, 2018-2024 (USD MILLION)
• TABLE 132. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY DIAGNOSTIC LABORATORIES, BY GROUP, 2025-2032 (USD MILLION)
• TABLE 133. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY DIAGNOSTIC LABORATORIES, BY COUNTRY, 2018-2024 (USD MILLION)
• TABLE 134. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY DIAGNOSTIC LABORATORIES, BY COUNTRY, 2025-2032 (USD MILLION)
• TABLE 135. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY HOSPITALS, 2018-2024 (USD MILLION)
• TABLE 136. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY HOSPITALS, 2025-2032 (USD MILLION)
• TABLE 137. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY HOSPITALS, BY REGION, 2018-2024 (USD MILLION)
• TABLE 138. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY HOSPITALS, BY REGION, 2025-2032 (USD MILLION)
• TABLE 139. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY HOSPITALS, BY GROUP, 2018-2024 (USD MILLION)
• TABLE 140. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY HOSPITALS, BY GROUP, 2025-2032 (USD MILLION)
• TABLE 141. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY HOSPITALS, BY COUNTRY, 2018-2024 (USD MILLION)
• TABLE 142. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY HOSPITALS, BY COUNTRY, 2025-2032 (USD MILLION)
• TABLE 143. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY PRIVATE HOSPITALS, BY REGION, 2018-2024 (USD MILLION)
• TABLE 144. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY PRIVATE HOSPITALS, BY REGION, 2025-2032 (USD MILLION)
• TABLE 145. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY PRIVATE HOSPITALS, BY GROUP, 2018-2024 (USD MILLION)
• TABLE 146. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY PRIVATE HOSPITALS, BY GROUP, 2025-2032 (USD MILLION)
• TABLE 147. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY PRIVATE HOSPITALS, BY COUNTRY, 2018-2024 (USD MILLION)
• TABLE 148. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY PRIVATE HOSPITALS, BY COUNTRY, 2025-2032 (USD MILLION)
• TABLE 149. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY PUBLIC HOSPITALS, BY REGION, 2018-2024 (USD MILLION)
• TABLE 150. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY PUBLIC HOSPITALS, BY REGION, 2025-2032 (USD MILLION)
• TABLE 151. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY PUBLIC HOSPITALS, BY GROUP, 2018-2024 (USD MILLION)
• TABLE 152. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY PUBLIC HOSPITALS, BY GROUP, 2025-2032 (USD MILLION)
• TABLE 153. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY PUBLIC HOSPITALS, BY COUNTRY, 2018-2024 (USD MILLION)
• TABLE 154. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY PUBLIC HOSPITALS, BY COUNTRY, 2025-2032 (USD MILLION)
• TABLE 155. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY RESEARCH INSTITUTIONS, BY REGION, 2018-2024 (USD MILLION)
• TABLE 156. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY RESEARCH INSTITUTIONS, BY REGION, 2025-2032 (USD MILLION)
• TABLE 157. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY RESEARCH INSTITUTIONS, BY GROUP, 2018-2024 (USD MILLION)
• TABLE 158. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY RESEARCH INSTITUTIONS, BY GROUP, 2025-2032 (USD MILLION)
• TABLE 159. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY RESEARCH INSTITUTIONS, BY COUNTRY, 2018-2024 (USD MILLION)
• TABLE 160. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY RESEARCH INSTITUTIONS, BY COUNTRY, 2025-2032 (USD MILLION)
• TABLE 161. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY SPECIALTY CLINICS, BY REGION, 2018-2024 (USD MILLION)
• TABLE 162. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY SPECIALTY CLINICS, BY REGION, 2025-2032 (USD MILLION)
• TABLE 163. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY SPECIALTY CLINICS, BY GROUP, 2018-2024 (USD MILLION)
• TABLE 164. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY SPECIALTY CLINICS, BY GROUP, 2025-2032 (USD MILLION)
• TABLE 165. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY SPECIALTY CLINICS, BY COUNTRY, 2018-2024 (USD MILLION)
• TABLE 166. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY SPECIALTY CLINICS, BY COUNTRY, 2025-2032 (USD MILLION)
• TABLE 167. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY APPLICATION, 2018-2024 (USD MILLION)
• TABLE 168. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY APPLICATION, 2025-2032 (USD MILLION)
• TABLE 169. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY CARRIER SCREENING, BY REGION, 2018-2024 (USD MILLION)
• TABLE 170. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY CARRIER SCREENING, BY REGION, 2025-2032 (USD MILLION)
• TABLE 171. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY CARRIER SCREENING, BY GROUP, 2018-2024 (USD MILLION)
• TABLE 172. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY CARRIER SCREENING, BY GROUP, 2025-2032 (USD MILLION)
• TABLE 173. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY CARRIER SCREENING, BY COUNTRY, 2018-2024 (USD MILLION)
• TABLE 174. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY CARRIER SCREENING, BY COUNTRY, 2025-2032 (USD MILLION)
• TABLE 175. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY DIAGNOSTICS, BY REGION, 2018-2024 (USD MILLION)
• TABLE 176. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY DIAGNOSTICS, BY REGION, 2025-2032 (USD MILLION)
• TABLE 177. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY DIAGNOSTICS, BY GROUP, 2018-2024 (USD MILLION)
• TABLE 178. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY DIAGNOSTICS, BY GROUP, 2025-2032 (USD MILLION)
• TABLE 179. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY DIAGNOSTICS, BY COUNTRY, 2018-2024 (USD MILLION)
• TABLE 180. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY DIAGNOSTICS, BY COUNTRY, 2025-2032 (USD MILLION)
• TABLE 181. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY NEWBORN SCREENING, BY REGION, 2018-2024 (USD MILLION)
• TABLE 182. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY NEWBORN SCREENING, BY REGION, 2025-2032 (USD MILLION)
• TABLE 183. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY NEWBORN SCREENING, BY GROUP, 2018-2024 (USD MILLION)
• TABLE 184. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY NEWBORN SCREENING, BY GROUP, 2025-2032 (USD MILLION)
• TABLE 185. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY NEWBORN SCREENING, BY COUNTRY, 2018-2024 (USD MILLION)
• TABLE 186. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY NEWBORN SCREENING, BY COUNTRY, 2025-2032 (USD MILLION)
• TABLE 187. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY PRENATAL SCREENING, 2018-2024 (USD MILLION)
• TABLE 188. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY PRENATAL SCREENING, 2025-2032 (USD MILLION)
• TABLE 189. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY PRENATAL SCREENING, BY REGION, 2018-2024 (USD MILLION)
• TABLE 190. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY PRENATAL SCREENING, BY REGION, 2025-2032 (USD MILLION)
• TABLE 191. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY PRENATAL SCREENING, BY GROUP, 2018-2024 (USD MILLION)
• TABLE 192. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY PRENATAL SCREENING, BY GROUP, 2025-2032 (USD MILLION)
• TABLE 193. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY PRENATAL SCREENING, BY COUNTRY, 2018-2024 (USD MILLION)
• TABLE 194. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY PRENATAL SCREENING, BY COUNTRY, 2025-2032 (USD MILLION)
• TABLE 195. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY INVASIVE, BY REGION, 2018-2024 (USD MILLION)
• TABLE 196. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY INVASIVE, BY REGION, 2025-2032 (USD MILLION)
• TABLE 197. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY INVASIVE, BY GROUP, 2018-2024 (USD MILLION)
• TABLE 198. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY INVASIVE, BY GROUP, 2025-2032 (USD MILLION)
• TABLE 199. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY INVASIVE, BY COUNTRY, 2018-2024 (USD MILLION)
• TABLE 200. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY INVASIVE, BY COUNTRY, 2025-2032 (USD MILLION)
• TABLE 201. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY NON INVASIVE, BY REGION, 2018-2024 (USD MILLION)
• TABLE 202. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY NON INVASIVE, BY REGION, 2025-2032 (USD MILLION)
• TABLE 203. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY NON INVASIVE, BY GROUP, 2018-2024 (USD MILLION)
• TABLE 204. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY NON INVASIVE, BY GROUP, 2025-2032 (USD MILLION)
• TABLE 205. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY NON INVASIVE, BY COUNTRY, 2018-2024 (USD MILLION)
• TABLE 206. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY NON INVASIVE, BY COUNTRY, 2025-2032 (USD MILLION)
• TABLE 207. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY RESEARCH APPLICATIONS, BY REGION, 2018-2024 (USD MILLION)
• TABLE 208. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY RESEARCH APPLICATIONS, BY REGION, 2025-2032 (USD MILLION)
• TABLE 209. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY RESEARCH APPLICATIONS, BY GROUP, 2018-2024 (USD MILLION)
• TABLE 210. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY RESEARCH APPLICATIONS, BY GROUP, 2025-2032 (USD MILLION)
• TABLE 211. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY RESEARCH APPLICATIONS, BY COUNTRY, 2018-2024 (USD MILLION)
• TABLE 212. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY RESEARCH APPLICATIONS, BY COUNTRY, 2025-2032 (USD MILLION)
• TABLE 213. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY DISEASE INDICATION, 2018-2024 (USD MILLION)
• TABLE 214. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY DISEASE INDICATION, 2025-2032 (USD MILLION)
• TABLE 215. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY HEMATOLOGICAL DISORDERS, BY REGION, 2018-2024 (USD MILLION)
• TABLE 216. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY HEMATOLOGICAL DISORDERS, BY REGION, 2025-2032 (USD MILLION)
• TABLE 217. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY HEMATOLOGICAL DISORDERS, BY GROUP, 2018-2024 (USD MILLION)
• TABLE 218. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY HEMATOLOGICAL DISORDERS, BY GROUP, 2025-2032 (USD MILLION)
• TABLE 219. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY HEMATOLOGICAL DISORDERS, BY COUNTRY, 2018-2024 (USD MILLION)
• TABLE 220. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY HEMATOLOGICAL DISORDERS, BY COUNTRY, 2025-2032 (USD MILLION)
• TABLE 221. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY METABOLIC DISORDERS, 2018-2024 (USD MILLION)
• TABLE 222. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY METABOLIC DISORDERS, 2025-2032 (USD MILLION)
• TABLE 223. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY METABOLIC DISORDERS, BY REGION, 2018-2024 (USD MILLION)
• TABLE 224. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY METABOLIC DISORDERS, BY REGION, 2025-2032 (USD MILLION)
• TABLE 225. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY METABOLIC DISORDERS, BY GROUP, 2018-2024 (USD MILLION)
• TABLE 226. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY METABOLIC DISORDERS, BY GROUP, 2025-2032 (USD MILLION)
• TABLE 227. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY METABOLIC DISORDERS, BY COUNTRY, 2018-2024 (USD MILLION)
• TABLE 228. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY METABOLIC DISORDERS, BY COUNTRY, 2025-2032 (USD MILLION)
• TABLE 229. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY ENZYME DEFICIENCIES, BY REGION, 2018-2024 (USD MILLION)
• TABLE 230. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY ENZYME DEFICIENCIES, BY REGION, 2025-2032 (USD MILLION)
• TABLE 231. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY ENZYME DEFICIENCIES, BY GROUP, 2018-2024 (USD MILLION)
• TABLE 232. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY ENZYME DEFICIENCIES, BY GROUP, 2025-2032 (USD MILLION)
• TABLE 233. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY ENZYME DEFICIENCIES, BY COUNTRY, 2018-2024 (USD MILLION)
• TABLE 234. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY ENZYME DEFICIENCIES, BY COUNTRY, 2025-2032 (USD MILLION)
• TABLE 235. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY MITOCHONDRIAL DISORDERS, BY REGION, 2018-2024 (USD MILLION)
• TABLE 236. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY MITOCHONDRIAL DISORDERS, BY REGION, 2025-2032 (USD MILLION)
• TABLE 237. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY MITOCHONDRIAL DISORDERS, BY GROUP, 2018-2024 (USD MILLION)
• TABLE 238. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY MITOCHONDRIAL DISORDERS, BY GROUP, 2025-2032 (USD MILLION)
• TABLE 239. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY MITOCHONDRIAL DISORDERS, BY COUNTRY, 2018-2024 (USD MILLION)
• TABLE 240. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY MITOCHONDRIAL DISORDERS, BY COUNTRY, 2025-2032 (USD MILLION)
• TABLE 241. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY NEUROMUSCULAR DISORDERS, BY REGION, 2018-2024 (USD MILLION)
• TABLE 242. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY NEUROMUSCULAR DISORDERS, BY REGION, 2025-2032 (USD MILLION)
• TABLE 243. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY NEUROMUSCULAR DISORDERS, BY GROUP, 2018-2024 (USD MILLION)
• TABLE 244. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY NEUROMUSCULAR DISORDERS, BY GROUP, 2025-2032 (USD MILLION)
• TABLE 245. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY NEUROMUSCULAR DISORDERS, BY COUNTRY, 2018-2024 (USD MILLION)
• TABLE 246. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY NEUROMUSCULAR DISORDERS, BY COUNTRY, 2025-2032 (USD MILLION)
• TABLE 247. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY ONCOLOGY, BY REGION, 2018-2024 (USD MILLION)
• TABLE 248. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY ONCOLOGY, BY REGION, 2025-2032 (USD MILLION)
• TABLE 249. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY ONCOLOGY, BY GROUP, 2018-2024 (USD MILLION)
• TABLE 250. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY ONCOLOGY, BY GROUP, 2025-2032 (USD MILLION)
• TABLE 251. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY ONCOLOGY, BY COUNTRY, 2018-2024 (USD MILLION)
• TABLE 252. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY ONCOLOGY, BY COUNTRY, 2025-2032 (USD MILLION)
• TABLE 253. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY REGION, 2018-2024 (USD MILLION)
• TABLE 254. GLOBAL RARE DISEASE GENETIC TESTING MARKET SIZE, BY REGION, 2025-2032 (USD MILLION)
• TABLE 255. AMERICAS RARE DISEASE GENETIC TESTING MARKET SIZE, BY SUBREGION, 2018-2024 (USD MILLION)
• TABLE 256. AMERICAS RARE DISEASE GENETIC TESTING MARKET SIZE, BY SUBREGION, 2025-2032 (USD MILLION)
• TABLE 257. AMERICAS RARE DISEASE GENETIC TESTING MARKET SIZE, BY TECHNOLOGY, 2018-2024 (USD MILLION)
• TABLE 258. AMERICAS RARE DISEASE GENETIC TESTING MARKET SIZE, BY TECHNOLOGY, 2025-2032 (USD MILLION)
• TABLE 259. AMERICAS RARE DISEASE GENETIC TESTING MARKET SIZE, BY NEXT GENERATION SEQUENCING, 2018-2024 (USD MILLION)
• TABLE 260. AMERICAS RARE DISEASE GENETIC TESTING MARKET SIZE, BY NEXT GENERATION SEQUENCING, 2025-2032 (USD MILLION)
• TABLE 261. AMERICAS RARE DISEASE GENETIC TESTING MARKET SIZE, BY POLYMERASE CHAIN REACTION, 2018-2024 (USD MILLION)
• TABLE 262. AMERICAS RARE DISEASE GENETIC TESTING MARKET SIZE, BY POLYMERASE CHAIN REACTION, 2025-2032 (USD MILLION)
• TABLE 263. AMERICAS RARE DISEASE GENETIC TESTING MARKET SIZE, BY TEST TYPE, 2018-2024 (USD MILLION)
• TABLE 264. AMERICAS RARE DISEASE GENETIC TESTING MARKET SIZE, BY TEST TYPE, 2025-2032 (USD MILLION)
• TABLE 265. AMERICAS RARE DISEASE GENETIC TESTING MARKET SIZE, BY EXOME SEQUENCING, 2018-2024 (USD MILLION)
• TABLE 266. AMERICAS RARE DISEASE GENETIC TESTING MARKET SIZE, BY EXOME SEQUENCING, 2025-2032 (USD MILLION)
• TABLE 267. AMERICAS RARE DISEASE GENETIC TESTING MARKET SIZE, BY GENOME SEQUENCING, 2018-2024 (USD MILLION)
• TABLE 268. AMERICAS RARE DISEASE GENETIC TESTING MARKET SIZE, BY GENOME SEQUENCING, 2025-2032 (USD MILLION)
• TABLE 269. AMERICAS RARE DISEASE GENETIC TESTING MARKET SIZE, BY PANEL TEST, 2018-2024 (USD MILLION)
• TABLE 270. AMERICAS RARE DISEASE GENETIC TESTING MARKET SIZE, BY PANEL TEST, 2025-2032 (USD MILLION)
• TABLE 271. AMERICAS RARE DISEASE GENETIC TESTING MARKET SIZE, BY END USER, 2018-2024 (USD MILLION)
• TABLE 272. AMERICAS RARE DISEASE GENETIC TESTING MARKET SIZE, BY END USER, 2025-2032 (USD MILLION)
• TABLE 273. AMERICAS RARE DISEASE GENETIC TESTING MARKET SIZE, BY HOSPITALS, 2018-2024 (USD MILLION)
• TABLE 274. AMERICAS RARE DISEASE GENETIC TESTING MARKET SIZE, BY HOSPITALS, 2025-2032 (USD MILLION)
• TABLE 275. AMERICAS RARE DISEASE GENETIC TESTING MARKET SIZE, BY APPLICATION, 2018-2024 (USD MILLION)
• TABLE 276. AMERICAS RARE DISEASE GENETIC TESTING MARKET SIZE, BY APPLICATION, 2025-2032 (USD MILLION)
• TABLE 277. AMERICAS RARE DISEASE GENETIC TESTING MARKET SIZE, BY PRENATAL SCREENING, 2018-2024 (USD MILLION)
• TABLE 278. AMERICAS RARE DISEASE GENETIC TESTING MARKET SIZE, BY PRENATAL SCREENING, 2025-2032 (USD MILLION)
• TABLE 279. AMERICAS RARE DISEASE GENETIC TESTING MARKET SIZE, BY DISEASE INDICATION, 2018-2024 (USD MILLION)
• TABLE 280. AMERICAS RARE DISEASE GENETIC TESTING MARKET SIZE, BY DISEASE INDICATION, 2025-2032 (USD MILLION)
• TABLE 281. AMERICAS RARE DISEASE GENETIC TESTING MARKET SIZE, BY METABOLIC DISORDERS, 2018-2024 (USD MILLION)
• TABLE 282. AMERICAS RARE DISEASE GENETIC TESTING MARKET SIZE, BY METABOLIC DISORDERS, 2025-2032 (USD MILLION)
• TABLE 283. NORTH AMERICA RARE DISEASE GENETIC TESTING MARKET SIZE, BY COUNTRY, 2018-2024 (USD MILLION)
• TABLE 284. NORTH AMERICA RARE DISEASE GENETIC TESTING MARKET SIZE, BY COUNTRY, 2025-2032 (USD MILLION)
• TABLE 285. NORTH AMERICA RARE DISEASE GENETIC TESTING MARKET SIZE, BY TECHNOLOGY, 2018-2024 (USD MILLION)
• TABLE 286. NORTH AMERICA RARE DISEASE GENETIC TESTING MARKET SIZE, BY TECHNOLOGY, 2025-2032 (USD MILLION)
• TABLE 287. NORTH AMERICA RARE DISEASE GENETIC TESTING MARKET SIZE, BY NEXT GENERATION SEQUENCING, 2018-2024 (USD MILLION)
• TABLE 288. NORTH AMERICA RARE DISEASE GENETIC TESTING MARKET SIZE, BY NEXT GENERATION SEQUENCING, 2025-2032 (USD MILLION)
• TABLE 289. NORTH AMERICA RARE DISEASE GENETIC TESTING MARKET SIZE, BY POLYMERASE CHAIN REACTION, 2018-2024 (USD MILLION)

TABLE 29