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罕見疾病基因檢測市場：依技術、檢測類型、最終用戶、應用和適應症分類－全球預測，2025-2032年

Rare Disease Genetic Testing Market by Technology, Test Type, End User, Application, Disease Indication - Global Forecast 2025-2032
出版日期: | 出版商: 360iResearch | 英文 185 Pages | 商品交期: 最快1-2個工作天內

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預計到 2032 年，罕見疾病基因檢測市場規模將達到 52.9 億美元，複合年成長率為 16.70%。

關鍵市場統計數據
基準年 2024 15.4億美元
預計年份：2025年 17.9億美元
預測年份 2032 52.9億美元
複合年成長率 (%) 16.70%

罕見疾病基因檢測的策略方向：基於技術成熟度、臨床應用壓力和相關人員優先事項的框架

罕見疾病基因檢測處於快速技術創新、不斷演進的臨床通訊協定以及患者和臨床醫生對精準診斷日益成長的期望的交匯點。本文概述了影響診斷、臨床和研究生態系統中相關人員策略和投資決策的關鍵因素。主要促進因素包括定序平台的成熟、基因組數據在臨床工作流程中的整合，以及對罕見疾病族群早期、更精準診斷的日益重視。

這一領域的特徵是檢測方式和應用範圍的不斷擴大，因此需要與實驗室資訊系統、法規遵循和報銷途徑進行整合。隨著創新降低技術門檻，診斷產量、週轉時間和與臨床路徑的契合度越來越成為選擇檢測方法的主要促進因素。因此，本導言旨在為讀者提供後續分析的結構性因素和營運重點，並預示報告將如何探討技術選擇、應用領域和最終用戶需求。

技術進步、整合的臨床工作流程和主導夥伴關係如何重塑罕見疾病基因檢測的提供和應用？

罕見疾病基因檢測領域正經歷著一場變革性的轉變，其驅動力來自於平台創新、貫穿整個診療流程的整合以及新型證據生成模式的湧現。次世代定序平台不斷拓展診斷的整體性，而微陣列和聚合酵素鏈鎖反應）檢測在需要進行標靶性強、成本效益高的檢測時發揮著至關重要的作用。同時，生物資訊流程和變異解讀框架也在不斷發展，旨在提供更快速、更具臨床指導意義的報告，並減少臨床醫生和患者的困惑。

診斷實驗室正在採用混合工作流程，將廣泛的基因組篩檢與標靶確認檢測相結合；專科診所也在醫療團隊中引入遺傳諮詢師，以改善患者預後。在支付方方面，基於價值的討論正在推動報銷機制向那些能夠顯著縮短診斷時間或提供有效治療方法方案的診斷方法傾斜。因此，整個產業正在加速技術提供者、臨床網路和研究機構之間的合作，以擴大證據產生規模、規範報告流程並降低臨床服務風險。

2025年美國關稅調整對罕見疾病基因檢測相關人員的供應鏈、採購和成本動態的營運和策略影響

美國計劃在2025年前實施關稅，這為罕見疾病基因檢測供應鏈中的相關機構帶來了一系列營運和策略方面的考量。關稅可能會改變進口試劑、定序設備和輔助檢測耗材的相對成本結構，進而擠壓診斷實驗室和製造商的利潤空間。這些壓力將促使相關人員重新評估籌資策略、合約條款和庫存政策，以維持服務的連續性和成本競爭力。

為此，最佳化供應鏈將成為管理工作的核心。各組織將加快對替代供應商的資格審核，優先發展區域製造夥伴關係關係，並增加關鍵試劑和組件的儲備庫存。這些調整將影響採購前置作業時間、營運成本和價格談判。此外，關稅主導的成本轉移將透過改變最終用戶和支付方的檢測交貨，影響臨床應用模式，進而可能影響醫院、專科診所和診斷實驗室的經濟效益。中期來看，關稅環境將鼓勵對國內生產進行策略性投資，並推動關鍵製造活動的在地化，以增強抵禦能力並降低跨境政策波動帶來的風險。

透過對技術、檢測方式、最終用戶、應用和疾病適應症進行全面細分，主導這些細分洞察，可以製定精準的市場策略。

在罕見疾病基因檢測領域，了解技術細分對於目標產品開發、商業策略和臨床整合至關重要。技術細分將微陣列、次世代定序和聚合酵素鏈鎖反應)區分為三大核心平台類別。在次世代定序儀中，不同的方法路徑，例如連接定序和合成定序，都會影響通量、讀長和平台特異性化學反應。聚合酵素鏈鎖反應)仍然是標靶檢測的關鍵技術，分為數位 PCR 和定量 PCR，它們提供不同的靈敏度和定量結果，適用於確診檢測和監測。

依檢測類型細分可進一步細化臨床和商業性定位，其中EXOME定序、基因組定序、基因檢測組合和單基因檢測構成主要類別。EXOME定序分為臨床外EXOME和研究性外顯子定序。臨床外顯子定序著重於臨床層級的解讀，而研究性外顯子定EXOME則著重於更廣泛的探索性發現。基因組定序區分標靶定序和全基因組定序，二者在資料量、解讀複雜性和對意外觀察的處理上有差異。基因檢測組合反映了以疾病為中心的診斷路徑，專門用於腫瘤、心血管和神經系統疾病的基因檢測組合，而單基因檢測在高主導、表現型驅動的診斷場景中仍然具有重要意義。

最終使用者細分有助於明確實施和工作流程整合工作的重點。診斷實驗室、醫院、研究機構和專科診所的採購週期、驗證預期和實施限制各不相同。在醫院內部，公立和私立部門的差異會影響預算彈性、採購時間表和報銷環境。應用細分展示了臨床用例，例如攜帶者篩檢、診斷、新生兒篩檢、產前篩檢和研究應用。產前篩檢進一步分為有創和非侵入性兩種方法，這兩種方法有不同的臨床工作流程和諮詢要求。疾病適應症細分突顯了血液系統疾病、代謝性疾病、神經肌肉疾病和腫瘤等優先臨床領域。代謝性疾病進一步分為酵素缺乏症和粒線體疾病，每種疾病都需要客製化的檢測和解讀策略。

這些細分視角的結合，能夠制定有針對性的打入市場策略、產生臨床證據，並集中精力與特定最終用戶互動，同時還有助於優先考慮與每個細分市場的技術和臨床要求相一致的監管途徑、報銷談判和實驗室檢驗計劃。

美洲、歐洲、中東和非洲以及亞太地區的動態和戰略考慮正在影響招聘、監管和供應鏈選擇。

在罕見疾病基因檢測生態系中，區域動態對臨床應用模式、監管預期和供應鏈設計有顯著影響。在美洲，人們高度重視將基因組診斷整合到醫院和門診病人診療流程中，公立和私立機構都在尋求臨床效用和運作擴充性的證據。該地區還擁有強大的本土製造業和完善的診斷實驗室網路，這會影響基因檢測的應用時間表和夥伴關係機會。

歐洲、中東和非洲的管理體制和報銷模式五花八門，需要針對特定區域的臨床檢驗和衛生經濟學證據。各國醫療保健體系的分散化使得企業必須制定量身定做的打入市場策略，並與當地診斷實驗室和專科診所合作，以應對不同的醫療覆蓋政策和臨床指南。在亞太地區，受公共衛生措施和私部門創新的雙重推動，基因組學基礎設施的投資正在加速成長。主要市場的不同應用促進因素，例如一些地區專注於新生兒篩檢和產前篩檢項目，而另一些地區則專注於以研究主導的定序舉措，這為區域夥伴關係、技術轉移和能力建設項目創造了機會。在所有地區，跨境合作、統一變異解讀標準以及投資於人才培養是擴大服務覆蓋範圍和確保高品質臨床應用的關鍵槓桿。

競爭格局分析著重於平台整合、生物資訊優勢、臨床證據生成以及營運擴充性，以實現市場差異化。

罕見疾病基因檢測領域的競爭格局呈現出技術供應商、設備製造商、診斷實驗室和臨床服務供應商並存的局面。領先企業憑藉其平台性能、生物資訊能力以及在複雜診斷環境中支援應用的深度臨床解讀服務脫穎而出。平台提供者與診斷實驗室之間的策略夥伴關係能夠加速臨床檢驗和規模化應用，而與研究機構的合作則有助於證據產生和新型應用的研發。

優先提供整合式解決方案的公司，例如結合強大的定序化學技術、可擴展的資訊學和精簡的實驗室工作流程，能夠有效降低臨床應用的阻力。同樣，投資於品管系統、認證和臨床決策支援工具的公司，能夠滿足醫院採購流程和專科診所的嚴格要求。專注於特定臨床應用或具成本效益確診檢測的市場參與企業，尤其是在已有報銷途徑或臨床效用得到證實的情況下，更容易在目標診療路徑中獲得認可。總而言之，競爭優勢取決於卓越技術、合規性、臨床證據以及規模化服務營運能力之間的相互作用。

為產業領導者提供可操作的策略重點，以增強韌性、加速臨床應用並展現罕見疾病基因檢測的可衡量價值

業界領導者應採取一系列切實可行的優先事項，以增強罕見疾病基因檢測的韌性，加速其應用，並最大限度地發揮其臨床影響力。首先，投資於模組化、可互通的資訊學框架將有助於快速解讀變異、實現跨機構資料共用，並確保符合不斷發展的報告標準。其次，建立策略供應商關係和區域製造夥伴關係可以降低關稅和供應鏈風險，同時提高採購的可預測性。第三，透過有針對性的前瞻性試驗和真實世界證據舉措，優先開發臨床證據，可以減少與支付方和醫院採購委員會之間的障礙，並提高報銷準備度。

領導者還應加強與臨床終端用戶的互動，將遺傳諮詢能力和臨床醫生教育計畫納入其中，以支持結果解讀和後續護理。此外，針對公立和私立醫院系統、研究機構和專科診所的具體需求量身定做打入市場策略，可以提高轉換率和營運協調性。最後，實施彈性價格設定模式和與臨床結果相符的價值導向合約，可以使服務產品脫穎而出，支持廣泛獲取檢測服務，同時展現對可衡量的患者獲益的承諾。

採用透明且可複製的調查方法，結合主要相關人員訪談、二手文獻綜合和嚴謹的三角驗證，提供經核實的市場洞察。

本報告的調查方法整合了多方面的證據，旨在對罕見疾病基因檢測現狀進行穩健且可重複的分析。主要研究包括對診斷實驗室、醫院、研究機構和專科診所的相關人員進行結構化訪談，以及諮詢平台和試劑生產商的專家。次要研究則整合了同儕審查文獻、監管指導文件和臨床實踐指南，以記錄技術性能、臨床效用和實施限制。

分析方法採用基於細分的策略，考察了技術、檢測類型、最終用戶、應用和適應症等方面的差異。區域分析是基於政策審查和相關人員的意見，以捕捉監管和報銷方面的細微差別。調查結果與一手訪談和二手資料進行三角驗證，以確保洞察既反映實際營運情況，也反映新興趨勢。資料檢驗過程包括與多位專家最後覆核，並透過補充研究協調相互矛盾的訊息，最終得出平衡且有理有據的結論，為策略決策提供支持。

整合策略要務、營運風險緩解和夥伴關係方式，以實現罕見疾病基因檢測的臨床應用前景

總之，罕見疾病基因檢測正處於曲折點，技術成熟度與不斷變化的臨床預期以及日益嚴格的供應鏈監管相融合。平台創新、更完善的解讀框架以及有針對性的證據生成共同推動了臨床應用的廣泛普及，而監管和報銷的複雜性則要求制定細緻入微、因地制宜的策略。關稅相關的壓力帶來了短期和中期的管理挑戰，但也為本地化和供應鏈多元化提供了長期機會。

決策者應考慮雙管齊下：一方面加強內部能力，例如資訊學、品質系統和臨床參與；另一方面建立外部夥伴關係關係，以加速檢驗和市場准入。將產品開發和商業策略與不同技術、檢測類型、最終用戶和適應症的細緻需求相匹配，有助於企業優先掌握高影響力機會並降低執行風險。能夠將卓越的科學實力與務實的營運方法結合，並清晰展現臨床價值的企業，將在此方面佔據優勢。

目錄

第1章：序言

第2章調查方法

第3章執行摘要

第4章 市場概覽

第5章 市場洞察

  • 將單細胞定序技術整合到罕見疾病早期基因診斷中，以檢測嵌合體和複雜突變
  • 利用基於 CRISPR 的即時基因檢測技術擴大新生兒篩檢範圍，以早期發現罕見疾病
  • 擴大學術研究中心與生物製藥公司之間的合作，以開發針對罕見疾病的基因療法
  • 引入人工智慧驅動的突變解讀平台，以減少複雜罕見疾病病例的診斷工作量
  • 擴大以患者主導的基因數據共用平台，以加速新基因發現和個人化診斷
  • 對藥物基因組學罕見疾病檢測的需求日益成長，這種檢測旨在客製化罕見疾病藥物選擇並最佳化治療效果。
  • 監管方面的進展使得外EXOME和基因組定序作為兒科罕見疾病的第一線診斷檢測方法得到更廣泛的應用
  • 在目標族群中實施多重數位PCR檢測，以經濟高效的方式篩檢人突變
  • 利用遠端醫療擴大遠距遺傳諮詢服務，以改善服務不足的罕見疾病患者的就醫途徑。
  • 開發長讀長定序技術以檢測與難治性罕見神經系統疾病相關的結構突變

第6章：美國關稅的累積影響，2025年

第7章：人工智慧的累積影響，2025年

第8章：依科技分類的罕見疾病基因檢測市場

  • 微陣列
  • 次世代定序
    • 連接定定序
    • 合成定定序
  • 聚合酵素鏈鎖反應
    • 數位PCR
    • 定量PCR

第9章：罕見疾病基因檢測市場（依檢測類型分類）

  • EXOME定序
    • 臨床EXOME
    • 研究EXOME
  • 基因組序列分析
    • 標靶基因組
    • 全基因組
  • 小組測試
    • 癌症小組
    • 心血管專家組
    • 神經學檢查
  • 單基因檢測

第10章：以最終用戶分類的罕見疾病基因檢測市場

  • 診斷實驗室
  • 醫院
    • 私立醫院
    • 公立醫院
  • 研究所
  • 專科診所

第11章 罕見疾病基因檢測市場（依應用領域分類）

  • 攜帶者篩檢
  • 診斷
  • 新生兒篩檢
  • 產前篩檢
    • 侵入性
    • 非侵入性
  • 研究應用

第12章：罕見疾病基因檢測市場（依疾病適應症分類）

  • 血液疾病
  • 代謝紊亂
    • 酵素缺乏
    • 粒線體疾病
  • 神經肌肉疾病
  • 腫瘤學

第13章：各地區罕見疾病基因檢測市場

  • 美洲
    • 北美洲
    • 拉丁美洲
  • 歐洲、中東和非洲
    • 歐洲
    • 中東
    • 非洲
  • 亞太地區

第14章 罕見疾病基因檢測市場（依群體分類）

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

第15章：各國罕見疾病基因檢測市場

  • 美國
  • 加拿大
  • 墨西哥
  • 巴西
  • 英國
  • 德國
  • 法國
  • 俄羅斯
  • 義大利
  • 西班牙
  • 中國
  • 印度
  • 日本
  • 澳洲
  • 韓國

第16章 競爭格局

  • 2024年市佔率分析
  • FPNV定位矩陣，2024
  • 競爭分析
    • 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
Product Code: MRR-B9334AD6C623

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