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市場調查報告書
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1808852

罕見疾病診斷市場（按技術、應用、最終用戶、國家和地區）—2025 年至 2032 年全球產業分析、市場規模、市場佔有率及預測

Rare Disease Diagnostics Market, By Technology, By Application, By End-user, By Country, and By Region - Global Industry Analysis, Market Size, Market Share & Forecast from 2025-2032
出版日期: | 出版商: AnalystView Market Insights | 英文 386 Pages | 商品交期: 2-3個工作天內

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簡介目錄

2024 年罕見疾病診斷市場規模價值 16.789 億美元，2025 年至 2032 年的複合年成長率為 14.5%。

罕見疾病診斷市場專注於開發、生產和終端用戶使用專門用於識別罕見疾病的診斷工具和檢測方法，這些疾病僅影響一小部分人口。這些疾病通常具有遺傳性、慢性且複雜，因此早期準確的診斷對於有效的治療和管理至關重要。該市場涵蓋各種技術，例如基因檢測、分子診斷、新一代定序和生化檢測。隨著人們對罕見疾病的認知不斷提高、診斷技術的進步以及政府推動罕見疾病研究的舉措，推動了該市場的成長。

此外，罕見疾病患者登記數量的增加以及醫療保健提供者和診斷公司之間的合作也支持了市場的擴張。挑戰包括檢測成本高昂以及發展中地區獲取服務的機會有限。然而，個人化醫療和人工智慧診斷領域的創新預計將進一步推動市場發展。總體而言，罕見疾病診斷市場在改善患者預後和支持精準醫療保健方法方面發揮著至關重要的作用。

罕見疾病診斷市場-市場動態

先進基因檢測技術的日益普及推動了罕見疾病診斷市場的發展。

先進基因檢測技術的日益普及是罕見疾病診斷市場的關鍵驅動力。這些技術，包括新一代定序和全基因組分析，能夠更精準、更快速地識別先前難以診斷的罕見遺傳疾病。因此，患者能夠更早、更準確地獲得診斷，從而顯著改善治療效果和生活品質。

基因檢測的進步也降低了成本，提高了可近性，鼓勵醫療保健提供者和患者更廣泛地使用基因檢測。此外，非侵入性產前檢測和液體活體組織切片等創新技術正在拓展診斷的可能性。這項技術進步得到了研究資金和監管部門批准的增加的支持，從而推動了市場的成長。總而言之，先進基因檢測的整合正在改變罕見疾病的診斷方式，使其在全球範圍內更加有效、更易於獲取。

罕見疾病診斷市場—關鍵洞察

根據我們的研究分析師的分析，預計全球市場在預測期內（2025-2032 年）的年複合成長率約為 14.5%。

根據技術細分，預計基因檢測將在 2024 年佔據最大市場佔有率

根據應用細分，遺傳疾病是 2024 年的主要應用

根據最終用戶細分，醫院和診所是 2024 年的主要最終用戶

按地區分類，北美是 2024 年的主要收入來源

罕見疾病診斷市場-細分分析：

全球罕見疾病診斷市場根據技術、應用、最終用戶和地區進行細分。

根據技術，市場可分為五大類別：基因檢測、分子診斷、新一代定序 (NGS)、生化分析和免疫分析。在罕見疾病診斷市場的各種技術中，基因檢測佔據主導地位。基因檢測可以直接分析個體的 DNA，以識別導致罕見遺傳疾病的突變或變異。這項技術可提供精準的早期診斷，這對於管理通常複雜且難以透過傳統方法檢測的疾病至關重要。基因檢測的進步，包括更經濟實惠且快速的定序技術，已在全球範圍內的醫療保健提供者中推廣使用。

此外，基因檢測能夠根據患者的基因特徵制定個人化治療方案，從而支持個人化醫療。它能夠診斷從遺傳性代謝紊亂到罕見癌症等各種罕見疾病，因此不可或缺。此外，日益成長的認知度和政府的支持也推動了基因檢測融入常規臨床實踐。新生兒篩檢計畫和產前基因檢測的推廣進一步提升了基因檢測在這一細分市場的主導地位。總體而言，基因檢測的準確性、速度和不斷擴展的應用領域，牢固確立了其在罕見疾病診斷領域的領先地位。

根據應用，市場可分為五類：遺傳性疾病、神經系統疾病、代謝性疾病、罕見癌症和其他疾病。遺傳性疾病是罕見疾病診斷市場中最主要的應用領域。這些疾病是由個體DNA異常引起的，通常遺傳自父母，因此早期準確診斷對於有效治療至關重要。遺傳性疾病涵蓋多種疾病，包括囊性纖維化、肌肉營養不良症和亨廷頓氏病，這些疾病對患者的健康和生活品質有顯著影響。

基因檢測和新一代定序等診斷技術透過檢測特定基因突變，在識別這些疾病方面特別有效。醫療保健專業人員和患者對早期診斷重要性的認知不斷提高，推動了這一領域的需求。此外，政府計劃和罕見疾病倡導團體高度重視遺傳性疾病，並為其提供資金和研究支持。標靶療法的日益普及也增強了對精準基因診斷的需求。由於遺傳性疾病通常在生命早期顯現，新生兒篩檢計畫有助於這一領域的擴展。總體而言，對精準識別和個人化治療方案的需求使遺傳性疾病成為罕見疾病診斷領域的主要應用領域。

罕見疾病診斷市場—地理洞察

北美憑藉其完善的醫療基礎設施和對醫學研究的大量投入，在罕見疾病診斷市場佔據強勢地位。該地區擁有先進的診斷實驗室，並廣泛應用諸如新一代定序等尖端技術。政府的大力支持，包括對罕見疾病研究和病患權益計劃計畫的資助，進一步鞏固了市場格局。

醫療保健提供者、研究機構和診斷公司之間的合作加速了新型診斷工具的創新和應用。此外，醫生和患者對罕見疾病的認知不斷提高，推動了對早期準確診斷的需求。許多罕見疾病患者登記和臨床試驗的存在也促進了市場的成長。總體而言，在良好的監管環境和強大的醫療生態系統的支持下，北美仍然是罕見疾病診斷技術進步和商業化的關鍵樞紐。

美國是罕見疾病診斷市場的領先國家，得益於其先進的醫療體系和對創新的高度重視。該國擁有大量致力於開發新型診斷技術的科學研究機構和生技公司。政府機構積極支持罕見疾病相關項目，透過資金和監管框架加速診斷檢測的核准。此外，美國的病患權益組織在提高公眾意識和改善診斷服務可近性方面發揮著至關重要的作用。尖端基因和分子檢測方法的廣泛應用提高了罕見疾病診斷的準確性和速度。

罕見疾病診斷市場-競爭格局：

罕見疾病診斷市場競爭激烈，主要參與者專注於創新、建立策略合作夥伴關係並擴展產品組合，以保持強大的市場影響力。 Illumina、賽默飛世爾科技、羅氏診斷、凱傑和伯樂實驗室等公司透過大力投資研發來提高診斷的準確性和速度，引領市場發展。

其他重要參與者，例如雅培實驗室 (Abbott Laboratories)、Invitae Corporation、Myriad Genetics 和 Natera, Inc.，則透過先進的基因檢測和分子診斷解決方案貢獻力量。競爭還涉及與醫療保健提供者和學術機構的合作，以加速罕見疾病的研究和診斷。此外，各公司正在努力提高診斷測試的可及性並降低成本，以覆蓋更廣泛的患者群體。這種充滿活力的格局推動著技術的持續進步，並為新興公司進入市場創造了機會。

最新動態：

2025 年 3 月，Illumina 推出了新款 MiSeq i100 基因定序儀，旨在讓全球各地的小型實驗室都能以更實惠的價格獲得基因定序服務。

目錄

第1章：罕見疾病診斷市場概述

  • 研究範圍
  • 市場估計年限

第2章：執行摘要

  • 市場片段
    • 罕見疾病診斷市場技術片段
    • 罕見疾病診斷市場應用片段
    • 罕見疾病診斷市場（按最終用戶）
    • 罕見疾病診斷市場（按國家/地區）
    • 罕見疾病診斷市場（按地區）
  • 競爭洞察

第3章：罕見疾病診斷關鍵市場趨勢

  • 罕見疾病診斷市場促進因素
    • 市場促進因素的影響分析
  • 罕見疾病診斷市場限制
    • 市場限制的影響分析
  • 罕見疾病診斷市場機遇
  • 罕見疾病診斷市場未來趨勢

第4章：罕見疾病診斷產業研究

  • PEST分析
  • 波特五力分析
  • 成長前景圖
  • 規範架構分析

第5章：罕見疾病診斷市場：地緣政治緊張局勢升級的影響

  • COVID-19 疫情的影響
  • 俄烏戰爭的影響
  • 中東衝突的影響

第6章：罕見疾病診斷市場格局

  • 2024年罕見疾病診斷市佔分析
  • 按主要製造商分類的細分數據
    • 成熟玩家分析
    • 新興企業分析

第7章：罕見疾病診斷市場－依技術

  • 概述
    • 按技術細分的市場佔有率分析
    • 基因檢測
    • 分子診斷
    • 下一代定序（NGS）
    • 生化分析
    • 免疫測定

第 8 章：罕見疾病診斷市場 - 按應用

  • 概述
    • 按應用細分市場佔有率分析
    • 遺傳性疾病
    • 神經系統疾病
    • 代謝紊亂
    • 罕見癌症
    • 其他

第9章：罕見疾病診斷市場－按最終用戶

  • 概述
    • 按最終用戶細分的佔有率分析
    • 醫院和診所
    • 診斷實驗室
    • 研究機構
    • 學術與政府研究中心

第 10 章：罕見疾病診斷市場 - 按地理分類

  • 介紹
    • 按地區分類的細分市場佔有率分析
  • 北美洲
    • 概述
    • 北美罕見疾病診斷主要製造商
    • 北美市場規模及預測（按國家/地區）
    • 北美市場規模和預測（按技術）
    • 北美市場規模和預測（按應用）
    • 北美市場規模及預測（按最終用戶）
    • 美國
    • 加拿大
  • 歐洲
    • 概述
    • 歐洲罕見疾病診斷主要製造商
    • 歐洲市場規模及預測（按國家/地區）
    • 歐洲市場規模與預測（按技術）
    • 歐洲市場規模和預測，按應用
    • 歐洲市場規模及預測（按最終用戶）
    • 德國
    • 英國
    • 法國
    • 義大利
    • 西班牙
    • 荷蘭
    • 瑞典
    • 俄羅斯
    • 波蘭
    • 歐洲其他地區
  • 亞太地區 (APAC)
    • 概述
    • 亞太地區罕見疾病診斷主要製造商
    • 亞太地區市場規模及預測（依國家）
    • 亞太地區市場規模及預測（依技術）
    • 亞太地區市場規模及預測（按應用）
    • 亞太地區市場規模及預測（依最終用戶）
    • 中國
    • 印度
    • 日本
    • 韓國
    • 澳洲
    • 印尼
    • 泰國
    • 菲律賓
    • 亞太地區其他地區
  • 拉丁美洲（LATAM）
    • 概述
    • 拉丁美洲罕見疾病診斷主要製造商
    • 拉丁美洲市場規模及預測（按國家/地區）
    • 拉丁美洲市場規模及預測（按技術）
    • 拉丁美洲市場規模及預測（按應用）
    • 拉丁美洲市場規模及預測（按最終用戶）
    • 巴西
    • 墨西哥
    • 阿根廷
    • 哥倫比亞
    • 拉丁美洲其他地區
  • 中東和非洲（MEA）
    • 概述
    • 中東和非洲罕見疾病診斷主要製造商
    • MEA 市場規模及預測（依國家/地區）
    • MEA 市場規模及預測（依技術）
    • MEA 市場規模及預測（按應用）
    • MEA 市場規模及預測（依最終用戶）
    • 沙烏地阿拉伯
    • 阿拉伯聯合大公國
    • 以色列
    • 土耳其
    • 阿爾及利亞
    • 埃及
    • MEA 其餘地區

第 11 章：罕見疾病診斷產業關鍵供應商分析

  • 競爭儀錶板
    • Competitive Benchmarking
    • Competitive Positioning
  • 公司簡介
    • Illumina, Inc.
    • Thermo Fisher Scientific
    • Roche Diagnostics
    • QIAGEN NV
    • Bio-Rad Laboratories
    • Abbott Laboratories
    • Becton, Dickinson and Company
    • Invitae Corporation
    • Agilent Technologies
    • PerkinElmer, Inc.
    • Myriad Genetics
    • Natera, Inc.
    • F. Hoffmann-La Roche AG
    • Guardant Health
    • Twist Bioscience Corporation
    • Laboratory Corporation of America Holdings (LabCorp)
    • Charles River Laboratories
    • Sophia Genetics
    • Centogene AG
    • Blueprint Genetics

第 12 章：360 度分析師視角

第 13 章：附錄

  • 研究方法
  • 參考
  • 縮寫
  • 免責聲明
  • 聯絡我們
簡介目錄
Product Code: ANV5489

Rare Disease Diagnostics Market size was valued at US$ 1,678.90 Million in 2024, expanding at a CAGR of 14.5% from 2025 to 2032.

The Rare Disease Diagnostics Market focuses on the development, production, and End-user of diagnostic tools and tests specifically designed to identify rare diseases, which affect a small percentage of the population. These diseases are often genetic, chronic, and complex, making early and accurate diagnosis crucial for effective treatment and management. The market includes various technologies such as genetic testing, molecular diagnostics, next-generation sequencing, and biochemical assays. Growth in this market is driven by increasing awareness of rare diseases, advancements in diagnostic technologies, and government initiatives promoting rare disease research.

Additionally, the rising number of rare disease patient registries and collaborations between healthcare providers and diagnostic companies support market expansion. Challenges include high costs of testing and limited access in developing regions. However, personalized medicine and innovations in artificial intelligence for diagnosis are expected to further boost market development. Overall, the Rare Disease Diagnostics Market plays a vital role in improving patient outcomes and supporting precision healthcare approaches.

Rare Disease Diagnostics Market- Market Dynamics

Growing adoption of advanced genetic testing technologies drives rare disease diagnostics market.

The growing adoption of advanced genetic testing technologies is a key driver for the Rare Disease Diagnostics Market. These technologies, including next-generation sequencing and whole-genome analysis, enable more precise and faster identification of rare genetic disorders that were previously difficult to diagnose. As a result, patients receive earlier and more accurate diagnoses, which significantly improves treatment outcomes and quality of life.

The advancement in genetic testing has also lowered costs and increased accessibility, encouraging wider use among healthcare providers and patients. Furthermore, innovations like non-invasive prenatal testing and liquid biopsies are expanding diagnostic possibilities. This technological progress is supported by increased research funding and regulatory approvals, fueling market growth. Overall, the integration of advanced genetic testing is transforming rare disease diagnostics, making it more effective and accessible globally.

Rare Disease Diagnostics Market- Key Insights

As per the analysis shared by our research analyst, the global market is estimated to grow annually at a CAGR of around 14.5% over the forecast period (2025-2032)

Based on Technology segmentation, Genetic Testing was predicted to show maximum market share in the year 2024

Based on application segmentation, Genetic Disorders was the leading application in 2024

Based on end-user segmentation, Hospitals and Clinics was the leading end-user in 2024

On the basis of region, North America was the leading revenue generator in 2024

Rare Disease Diagnostics Market- Segmentation Analysis:

The Global Rare Disease Diagnostics Market is segmented on the basis of Technology, Application, End-user, and Region.

The market is divided into five categories based on Technology: Genetic Testing, Molecular Diagnostics, Next-Generation Sequencing (NGS), Biochemical Assays, and Immunoassays. Among the various technologies in the Rare Disease Diagnostics Market, Genetic Testing stands out as the most dominant segment. Genetic testing allows for the direct analysis of an individual's DNA to identify mutations or variations responsible for rare genetic disorders. This technology offers precise and early diagnosis, which is critical for managing diseases that are often complex and difficult to detect through traditional methods. Advances in genetic testing, including more affordable and rapid sequencing techniques, have increased its adoption among healthcare providers worldwide.

Moreover, genetic testing supports personalized medicine by enabling tailored treatment plans based on a patient's genetic profile. Its ability to diagnose a broad range of rare diseases, from inherited metabolic disorders to rare cancers, makes it indispensable. Additionally, growing awareness and government support have fueled the integration of genetic testing into routine clinical practice. The expansion of newborn screening programs and prenatal genetic tests further boosts its dominance in this market segment. Overall, genetic testing's accuracy, speed, and expanding applications firmly establish it as the leading technology in rare disease diagnostics.

The market is divided into five categories based on application: Genetic Disorders, Neurological Disorders, Metabolic Disorders, Rare Cancers, and Others. Genetic Disorders represent the most dominant application segment in the Rare Disease Diagnostics Market. These disorders are caused by abnormalities in an individual's DNA, often inherited from parents, making early and accurate diagnosis crucial for effective management. Genetic disorders cover a wide range of conditions, including cystic fibrosis, muscular dystrophy, and Huntington's disease, which significantly impact patient health and quality of life.

Diagnostic technologies such as genetic testing and next-generation sequencing are particularly effective in identifying these disorders by detecting specific gene mutations. Increased awareness among healthcare professionals and patients about the importance of early diagnosis has driven demand in this segment. Additionally, government initiatives and rare disease advocacy groups focus heavily on genetic disorders, supporting funding and research efforts. The growing availability of targeted therapies also enhances the need for precise genetic diagnosis. As genetic disorders often manifest early in life, newborn screening programs contribute to this segment's expansion. Overall, the need for accurate identification and personalized treatment options makes genetic disorders the leading application segment in rare disease diagnostics.

Rare Disease Diagnostics Market- Geographical Insights

North America holds a strong position in the Rare Disease Diagnostics Market due to its well-established healthcare infrastructure and significant investment in medical research. The region benefits from advanced diagnostic laboratories and widespread availability of cutting-edge technologies such as next-generation sequencing. Strong government support, including funding for rare disease research and patient advocacy programs, further strengthens the market landscape.

Collaboration between healthcare providers, research institutions, and diagnostic companies accelerates innovation and adoption of new diagnostic tools. Additionally, increased awareness about rare diseases among physicians and patients drives demand for early and accurate diagnosis. The presence of numerous rare disease patient registries and clinical trials also contributes to market growth. Overall, North America remains a key hub for advancements and commercialization in rare disease diagnostics, supported by a favorable regulatory environment and robust healthcare ecosystem.

The United States is a leading country in the Rare Disease Diagnostics Market, driven by its advanced healthcare system and strong focus on innovation. The country benefits from a high concentration of research institutions and biotechnology companies dedicated to developing new diagnostic technologies. Government agencies actively support rare disease initiatives through funding and regulatory frameworks that encourage faster approval of diagnostic tests. Additionally, patient advocacy groups in the U.S. play a crucial role in raising awareness and improving access to diagnostic services. The widespread adoption of cutting-edge genetic and molecular testing methods enhances the accuracy and speed of rare disease diagnosis.

Rare Disease Diagnostics Market- Competitive Landscape:

The Rare Disease Diagnostics Market is highly competitive, with key players focusing on innovation, strategic partnerships, and expanding their product portfolios to maintain a strong market presence. Companies like Illumina, Thermo Fisher Scientific, Roche Diagnostics, QIAGEN, and Bio-Rad Laboratories lead the market by investing heavily in research and development to improve diagnostic accuracy and speed.

Other significant players, such as Abbott Laboratories, Invitae Corporation, Myriad Genetics, and Natera, Inc., contribute through advanced genetic testing and molecular diagnostics solutions. The competition also involves collaborations with healthcare providers and academic institutions to accelerate rare disease research and diagnosis. Additionally, firms are working to enhance accessibility and reduce the costs of diagnostic tests to reach a broader patient base. This dynamic landscape drives continuous technological advancements and creates opportunities for emerging companies to enter the market.

Recent Developments:

In March 2025, Illumina launched the new MiSeq i100 gene sequencer aimed at making genetic sequencing more affordable and accessible to smaller laboratories worldwide.

SCOPE OF THE REPORT

The scope of this report covers the market by its major segments, which include as following:

GLOBAL RARE DISEASE DIAGNOSTICS MARKET KEY PLAYERS- DETAILED COMPETITIVE INSIGHTS

  • Illumina, Inc.
  • Thermo Fisher Scientific
  • Roche Diagnostics
  • QIAGEN N.V.
  • Bio-Rad Laboratories
  • Abbott Laboratories
  • Becton, Dickinson and Company
  • Invitae Corporation
  • Agilent Technologies
  • PerkinElmer, Inc.
  • Myriad Genetics
  • Natera, Inc.
  • F. Hoffmann-La Roche AG
  • Guardant Health
  • Twist Bioscience Corporation
  • Laboratory Corporation of America Holdings (LabCorp)
  • Charles River Laboratories
  • Sophia Genetics
  • Centogene AG
  • Blueprint Genetics

GLOBAL RARE DISEASE DIAGNOSTICS MARKET, BY TECHNOLOGY- MARKET ANALYSIS, 2019 - 2032

  • Genetic Testing
  • Molecular Diagnostics
  • Next-Generation Sequencing (NGS)
  • Biochemical Assays
  • Immunoassays

GLOBAL RARE DISEASE DIAGNOSTICS MARKET, BY APPLICATION- MARKET ANALYSIS, 2019 - 2032

  • Genetic Disorders
  • Neurological Disorders
  • Metabolic Disorders
  • Rare Cancers
  • Others

GLOBAL RARE DISEASE DIAGNOSTICS MARKET, BY END-USER- MARKET ANALYSIS, 2019 - 2032

  • Hospitals and Clinics
  • Diagnostic Laboratories
  • Research Institutes
  • Academic and Government Research Centers

GLOBAL RARE DISEASE DIAGNOSTICS MARKET, BY REGION- MARKET ANALYSIS, 2019 - 2032

  • North America
  • U.S.
  • Canada
  • Europe
  • Germany
  • UK
  • France
  • Italy
  • Spain
  • The Netherlands
  • Sweden
  • Russia
  • Poland
  • Rest of Europe
  • Asia Pacific
  • China
  • India
  • Japan
  • South Korea
  • Australia
  • Indonesia
  • Thailand
  • Philippines
  • Rest of APAC
  • Latin America
  • Brazil
  • Mexico
  • Argentina
  • Colombia
  • Rest of LATAM
  • The Middle East and Africa
  • Saudi Arabia
  • UAE
  • Israel
  • Turkey
  • Algeria
  • Egypt
  • Rest of MEA

Table of Contents

1. Rare Disease Diagnostics Market Overview

  • 1.1. Study Scope
  • 1.2. Market Estimation Years

2. Executive Summary

  • 2.1. Market Snippet
    • 2.1.1. Rare Disease Diagnostics Market Snippet by Technology
    • 2.1.2. Rare Disease Diagnostics Market Snippet by Application
    • 2.1.3. Rare Disease Diagnostics Market Snippet by End-user
    • 2.1.4. Rare Disease Diagnostics Market Snippet by Country
    • 2.1.5. Rare Disease Diagnostics Market Snippet by Region
  • 2.2. Competitive Insights

3. Rare Disease Diagnostics Key Market Trends

  • 3.1. Rare Disease Diagnostics Market Drivers
    • 3.1.1. Impact Analysis of Market Drivers
  • 3.2. Rare Disease Diagnostics Market Restraints
    • 3.2.1. Impact Analysis of Market Restraints
  • 3.3. Rare Disease Diagnostics Market Opportunities
  • 3.4. Rare Disease Diagnostics Market Future Trends

4. Rare Disease Diagnostics Industry Study

  • 4.1. PEST Analysis
  • 4.2. Porter's Five Forces Analysis
  • 4.3. Growth Prospect Mapping
  • 4.4. Regulatory Framework Analysis

5. Rare Disease Diagnostics Market: Impact of Escalating Geopolitical Tensions

  • 5.1. Impact of COVID-19 Pandemic
  • 5.2. Impact of Russia-Ukraine War
  • 5.3. Impact of Middle East Conflicts

6. Rare Disease Diagnostics Market Landscape

  • 6.1. Rare Disease Diagnostics Market Share Analysis, 2024
  • 6.2. Breakdown Data, by Key Manufacturer
    • 6.2.1. Established Players' Analysis
    • 6.2.2. Emerging Players' Analysis

7. Rare Disease Diagnostics Market - By Technology

  • 7.1. Overview
    • 7.1.1. Segment Share Analysis, By Technology, 2024 & 2032 (%)
    • 7.1.2. Genetic Testing
    • 7.1.3. Molecular Diagnostics
    • 7.1.4. Next-Generation Sequencing (NGS)
    • 7.1.5. Biochemical Assays
    • 7.1.6. Immunoassays

8. Rare Disease Diagnostics Market - By Application

  • 8.1. Overview
    • 8.1.1. Segment Share Analysis, By Application, 2024 & 2032 (%)
    • 8.1.2. Genetic Disorders
    • 8.1.3. Neurological Disorders
    • 8.1.4. Metabolic Disorders
    • 8.1.5. Rare Cancers
    • 8.1.6. Others

9. Rare Disease Diagnostics Market - By End-user

  • 9.1. Overview
    • 9.1.1. Segment Share Analysis, By End-user, 2024 & 2032 (%)
    • 9.1.2. Hospitals and Clinics
    • 9.1.3. Diagnostic Laboratories
    • 9.1.4. Research Institutes
    • 9.1.5. Academic and Government Research Centers

10. Rare Disease Diagnostics Market- By Geography

  • 10.1. Introduction
    • 10.1.1. Segment Share Analysis, By Geography, 2024 & 2032 (%)
  • 10.2. North America
    • 10.2.1. Overview
    • 10.2.2. Rare Disease Diagnostics Key Manufacturers in North America
    • 10.2.3. North America Market Size and Forecast, By Country, 2019 - 2032 (US$ Million)
    • 10.2.4. North America Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
    • 10.2.5. North America Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
    • 10.2.6. North America Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.2.7. U.S.
      • 10.2.7.1. Overview
      • 10.2.7.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.2.7.3. U.S. Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.2.7.4. U.S. Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.2.7.5. U.S. Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.2.8. Canada
      • 10.2.8.1. Overview
      • 10.2.8.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.2.8.3. Canada Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.2.8.4. Canada Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.2.8.5. Canada Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
  • 10.3. Europe
    • 10.3.1. Overview
    • 10.3.2. Rare Disease Diagnostics Key Manufacturers in Europe
    • 10.3.3. Europe Market Size and Forecast, By Country, 2019 - 2032 (US$ Million)
    • 10.3.4. Europe Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
    • 10.3.5. Europe Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
    • 10.3.6. Europe Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.3.7. Germany
      • 10.3.7.1. Overview
      • 10.3.7.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.3.7.3. Germany Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.3.7.4. Germany Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.3.7.5. Germany Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.3.8. UK
      • 10.3.8.1. Overview
      • 10.3.8.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.3.8.3. UK Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.3.8.4. UK Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.3.8.5. UK Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.3.9. France
      • 10.3.9.1. Overview
      • 10.3.9.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.3.9.3. France Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.3.9.4. France Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.3.9.5. France Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.3.10. Italy
      • 10.3.10.1. Overview
      • 10.3.10.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.3.10.3. Italy Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.3.10.4. Italy Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.3.10.5. Italy Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.3.11. Spain
      • 10.3.11.1. Overview
      • 10.3.11.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.3.11.3. Spain Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.3.11.4. Spain Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.3.11.5. Spain Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.3.12. The Netherlands
      • 10.3.12.1. Overview
      • 10.3.12.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.3.12.3. The Netherlands Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.3.12.4. The Netherlands Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.3.12.5. The Netherlands Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.3.13. Sweden
      • 10.3.13.1. Overview
      • 10.3.13.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.3.13.3. Sweden Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.3.13.4. Sweden Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.3.13.5. Sweden Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.3.14. Russia
      • 10.3.14.1. Overview
      • 10.3.14.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.3.14.3. Russia Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.3.14.4. Russia Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.3.14.5. Russia Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.3.15. Poland
      • 10.3.15.1. Overview
      • 10.3.15.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.3.15.3. Poland Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.3.15.4. Poland Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.3.15.5. Poland Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.3.16. Rest of Europe
      • 10.3.16.1. Overview
      • 10.3.16.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.3.16.3. Rest of the Europe Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.3.16.4. Rest of the Europe Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.3.16.5. Rest of the Europe Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
  • 10.4. Asia Pacific (APAC)
    • 10.4.1. Overview
    • 10.4.2. Rare Disease Diagnostics Key Manufacturers in Asia Pacific
    • 10.4.3. APAC Market Size and Forecast, By Country, 2019 - 2032 (US$ Million)
    • 10.4.4. APAC Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
    • 10.4.5. APAC Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
    • 10.4.6. APAC Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.4.7. China
      • 10.4.7.1. Overview
      • 10.4.7.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.4.7.3. China Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.4.7.4. China Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.4.7.5. China Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.4.8. India
      • 10.4.8.1. Overview
      • 10.4.8.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.4.8.3. India Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.4.8.4. India Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.4.8.5. India Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.4.9. Japan
      • 10.4.9.1. Overview
      • 10.4.9.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.4.9.3. Japan Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.4.9.4. Japan Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.4.9.5. Japan Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.4.10. South Korea
      • 10.4.10.1. Overview
      • 10.4.10.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.4.10.3. South Korea Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.4.10.4. South Korea Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.4.10.5. South Korea Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.4.11. Australia
      • 10.4.11.1. Overview
      • 10.4.11.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.4.11.3. Australia Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.4.11.4. Australia Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.4.11.5. Australia Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.4.12. Indonesia
      • 10.4.12.1. Overview
      • 10.4.12.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.4.12.3. Indonesia Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.4.12.4. Indonesia Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.4.12.5. Indonesia Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.4.13. Thailand
      • 10.4.13.1. Overview
      • 10.4.13.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.4.13.3. Thailand Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.4.13.4. Thailand Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.4.13.5. Thailand Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.4.14. Philippines
      • 10.4.14.1. Overview
      • 10.4.14.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.4.14.3. Philippines Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.4.14.4. Philippines Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.4.14.5. Philippines Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.4.15. Rest of APAC
      • 10.4.15.1. Overview
      • 10.4.15.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.4.15.3. Rest of APAC Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.4.15.4. Rest of APAC Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.4.15.5. Rest of APAC Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
  • 10.5. Latin America (LATAM)
    • 10.5.1. Overview
    • 10.5.2. Rare Disease Diagnostics Key Manufacturers in Latin America
    • 10.5.3. LATAM Market Size and Forecast, By Country, 2019 - 2032 (US$ Million)
    • 10.5.4. LATAM Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
    • 10.5.5. LATAM Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
    • 10.5.6. LATAM Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.5.7. Brazil
      • 10.5.7.1. Overview
      • 10.5.7.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.5.7.3. Brazil Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.5.7.4. Brazil Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.5.7.5. Brazil Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.5.8. Mexico
      • 10.5.8.1. Overview
      • 10.5.8.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.5.8.3. Mexico Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.5.8.4. Mexico Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.5.8.5. Mexico Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.5.9. Argentina
      • 10.5.9.1. Overview
      • 10.5.9.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.5.9.3. Argentina Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.5.9.4. Argentina Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.5.9.5. Argentina Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.5.10. Colombia
      • 10.5.10.1. Overview
      • 10.5.10.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.5.10.3. Colombia Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.5.10.4. Colombia Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.5.10.5. Colombia Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.5.11. Rest of LATAM
      • 10.5.11.1. Overview
      • 10.5.11.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.5.11.3. Rest of LATAM Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.5.11.4. Rest of LATAM Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.5.11.5. Rest of LATAM Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
  • 10.6. Middle East and Africa (MEA)
    • 10.6.1. Overview
    • 10.6.2. Rare Disease Diagnostics Key Manufacturers in Middle East and Africa
    • 10.6.3. MEA Market Size and Forecast, By Country, 2019 - 2032 (US$ Million)
    • 10.6.4. MEA Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
    • 10.6.5. MEA Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
    • 10.6.6. MEA Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.6.7. Saudi Arabia
      • 10.6.7.1. Overview
      • 10.6.7.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.6.7.3. Saudi Arabia Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.6.7.4. Saudi Arabia Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.6.7.5. Saudi Arabia Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.6.8. UAE
      • 10.6.8.1. Overview
      • 10.6.8.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.6.8.3. UAE Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.6.8.4. UAE Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.6.8.5. UAE Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.6.9. Israel
      • 10.6.9.1. Overview
      • 10.6.9.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.6.9.3. Israel Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.6.9.4. Israel Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.6.9.5. Israel Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.6.10. Turkey
      • 10.6.10.1. Overview
      • 10.6.10.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.6.10.3. Turkey Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.6.10.4. Turkey Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.6.10.5. Turkey Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.6.11. Algeria
      • 10.6.11.1. Overview
      • 10.6.11.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.6.11.3. Algeria Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.6.11.4. Algeria Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.6.11.5. Algeria Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.6.12. Egypt
      • 10.6.12.1. Overview
      • 10.6.12.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.6.12.3. Egypt Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.6.12.4. Egypt Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.6.12.5. Egypt Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)
    • 10.6.13. Rest of MEA
      • 10.6.13.1. Overview
      • 10.6.13.2. Market Analysis, Forecast, and Y-O-Y Growth Rate, 2019 - 2032, (US$ Million)
      • 10.6.13.3. Rest of MEA Market Size and Forecast, By Technology, 2019 - 2032 (US$ Million)
      • 10.6.13.4. Rest of MEA Market Size and Forecast, By Application, 2019 - 2032 (US$ Million)
      • 10.6.13.5. Rest of MEA Market Size and Forecast, By End-user, 2019 - 2032 (US$ Million)

11. Key Vendor Analysis- Rare Disease Diagnostics Industry

  • 11.1. Competitive Dashboard
    • 11.1.1. Competitive Benchmarking
    • 11.1.2. Competitive Positioning
  • 11.2. Company Profiles
    • 11.2.1. Illumina, Inc.
    • 11.2.2. Thermo Fisher Scientific
    • 11.2.3. Roche Diagnostics
    • 11.2.4. QIAGEN N.V.
    • 11.2.5. Bio-Rad Laboratories
    • 11.2.6. Abbott Laboratories
    • 11.2.7. Becton, Dickinson and Company
    • 11.2.8. Invitae Corporation
    • 11.2.9. Agilent Technologies
    • 11.2.10. PerkinElmer, Inc.
    • 11.2.11. Myriad Genetics
    • 11.2.12. Natera, Inc.
    • 11.2.13. F. Hoffmann-La Roche AG
    • 11.2.14. Guardant Health
    • 11.2.15. Twist Bioscience Corporation
    • 11.2.16. Laboratory Corporation of America Holdings (LabCorp)
    • 11.2.17. Charles River Laboratories
    • 11.2.18. Sophia Genetics
    • 11.2.19. Centogene AG
    • 11.2.20. Blueprint Genetics

12. 360 Degree AnalystView

13. Appendix

  • 13.1. Research Methodology
  • 13.2. References
  • 13.3. Abbreviations
  • 13.4. Disclaimer
  • 13.5. Contact Us