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1830884

2025年全球罕見疾病基因檢測市場報告

Rare Disease Genetic Testing Global Market Report 2025
出版日期: | 出版商: The Business Research Company | 英文 250 Pages | 商品交期: 2-10個工作天內

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簡介目錄

近年來，罕見疾病基因檢測市場規模迅速擴張，從2024年的10.3億美元成長至2025年的11.7億美元，複合年成長率達13.6%。預測期內的成長歸因於人們對罕見遺傳病認知的不斷提高、對早期精準診斷的需求不斷成長、政府對罕見病研究的資助不斷增加、基因檢測服務的普及、精準醫療投資的不斷增加以及罕見遺傳患者病率的不斷上升。

預計未來幾年罕見疾病基因檢測市場將快速成長，到2029年將達到19.3億美元，複合年成長率為13.3%。預測期內的成長歸因於多種因素，例如次世代定序的普及、個人化醫療的日益關注、基因研究投資的增加、新興市場醫療基礎設施的擴展、診斷檢測需求的不斷成長、遺傳性癌症檢測的使用日益增多以及對非侵入性診斷解決方案的日益偏好。預測期內的主要趨勢包括基因組編輯技術的進步、用於基因數據分析的先進生物資訊學工具的開發、多基因面板檢測的創新、攜帶式基因檢測設備的進步以及樣本採集技術的改進。

罕見疾病基因檢測透過分析個體DNA，識別可能導致或促成罕見疾病的基因變異或突變。這有助於為罕見疾病或未確診疾病患者提供精準診斷、早期療育和個人化治療方案。

罕見疾病基因檢測主要涵蓋免疫、心血管、神經、內分泌和代謝、血液和皮膚疾病等疾病。免疫疾病是指免疫系統異常，表現為免疫系統功能亢進、減退或自體免疫。這些疾病的診斷技術包括次世代定序、桑格定序、基於聚合酵素鏈鎖反應(PCR) 的檢測、基於晶片的檢測和螢光原位雜合反應(FISH)。專科檢測分為分子遺傳學檢測、染色體遺傳學檢測和生化遺傳學檢測，服務於各種終端用戶，包括醫院和診所、實驗室和受託研究機構(CRO)、診斷實驗室以及其他醫療保健機構。

2025年春季美國突然提高關稅以及由此引發的貿易摩擦對醫療保健產業產生了嚴重影響，特別是對關鍵醫療設備、診斷設備和藥品的供應。醫院和醫療機構面臨進口手術器械、影像設備以及注射器和導管等消耗品成本上漲的問題。這些成本上漲給醫療保健預算帶來了壓力，導致一些醫療機構推遲設備升級或將成本轉嫁給患者。此外，原料和零件的關稅阻礙了基本藥品和醫療設備的生產，造成了供應鏈瓶頸。作為應對措施，該行業正在籌資策略多樣化，盡可能促進本地生產，並倡導對緊急醫療產品免關稅。

本研究報告是商業研究公司（The Business Research Company）新報告系列的一部分，該系列提供了罕見病基因檢測市場統計數據，包括全球罕見病基因檢測行業市場規模、各地區市場佔有率、各競爭對手的市場佔有率、罕見病基因檢測市場細分、市場趨勢和商業機會，以及在罕見病基因檢測行業取得成功所需的數據。這份罕見疾病基因檢測市場研究報告提供了您所需的全方位展望，並詳細分析了該行業的現狀和未來發展趨勢。

遺傳性疾病的日益普及推動了罕見疾病基因檢測市場的成長。遺傳性疾病源自於遺傳自父母一方或雙方的DNA異常，或由新生突變所引起。父母年齡成長等因素會增加遺傳基因突變的可能性。罕見疾病基因檢測能夠及早且準確地發現這些疾病，支持個人化治療方案並改善患者預後。例如，2024年5月，英國國家醫療服務體系（NHS）報告稱，鐮狀細胞疾病（鐮狀血液疾病）患者數量為17,000人，每年約有250例新確診病例，這凸顯了對基因檢測的持續需求。

領先的開發商正在開發數位基因組學平台，以提高罕見疾病診斷的速度、準確性和擴充性。這些平台整合了基因組數據分析、解讀和報告功能，簡化了檢測工作流程。 2025年3月，Strand Life Sciences Private Limited（印度）推出了StrandOmics Portal，這是一個數位基因組學平台，可為臨床醫生提供有關基因突變的詳細見解，從而實現更快、更準確的診斷。該平台支援包括產前檢測在內的高階變異解讀，並支持對基因數據的獨立審查，從而加強精準醫療計畫。

2022年1月，美國Exact Sciences Corporation以1.9億美元收購了Prevention Genetics LLC，以擴大其遺傳性癌症檢測能力。此次收購增強了Exact Sciences的基因檢測產品組合，加速了遺傳性癌症診斷的可及性，並為醫療保健提供者提供了更全面的基因洞察。 Prevention Genetics專注於罕見疾病診斷，與Exact Sciences對精準醫療的專注相得益彰。

罕見疾病基因檢測市場包括提供全外EXOME定序、標靶基因面板檢測、全基因組定序、帶因者篩檢和新生兒基因篩檢等服務的營業單位所獲得的收益。市場價值包括服務提供者銷售的或包含在其服務產品中的任何相關產品的價值。罕見疾病基因檢測市場還包括基因檢測套組、生物資訊軟體、次世代定序(NGS) 平台、實驗室試劑和耗材以及標靶基因面板的銷售。該市場的價值是「工廠門口」價值，即產品製造商或創造者銷售給其他營業單位（包括下游製造商、批發商、經銷商和零售商）或直接銷售給最終客戶的產品價值。該市場中的產品價值還包括產品創造者銷售的任何相關服務。

目錄

第1章執行摘要

第2章 市場特徵

第3章 市場趨勢與策略

第4章 市場：宏觀經濟情景，包括利率、通膨、地緣政治、貿易戰和關稅，以及新冠疫情和復甦對市場的影響

第5章 全球成長分析與策略分析框架

  • 全球罕見疾病基因檢測：PESTEL分析（政治、社會、技術、環境、法律、促進因素與限制因素）
  • 最終用途產業分析
  • 全球罕見疾病基因檢測市場：成長率分析
  • 全球罕見疾病基因檢測市場表現：規模與成長，2019-2024
  • 全球罕見疾病基因檢測市場預測：規模與成長，2024-2029年，2034年
  • 全球罕見疾病基因檢測：總目標市場（TAM）

第6章 市場細分

  • 全球罕見疾病基因檢測市場：依疾病類型、績效及預測，2019-2024 年、2024-2029 年、2034 年
  • 免疫疾病
  • 心血管疾病
  • 神經系統疾病
  • 內分泌和代謝紊亂
  • 血液疾病
  • 皮膚病
  • 其他類型的疾病
  • 全球罕見疾病基因檢測市場：依技術、績效及預測，2019-2024 年、2024-2029 年、2034 年
  • 次世代定序
  • 桑格定序
  • 基於聚合酵素鏈鎖反應的測試
  • 基於陣列的測試
  • 螢光原位雜合反應
  • 其他技術
  • 全球罕見疾病基因檢測市場（依專業、績效及預測），2019-2024 年、2024-2029 年、2034 年
  • 分子遺傳學檢測
  • 染色體基因檢測
  • 生化基因檢測
  • 全球罕見疾病基因檢測市場：按最終用戶、實際結果和預測，2019-2024 年、2024-2029 年、2034 年
  • 醫院和診所
  • 研究機構和合約研究機構
  • 診斷實驗室
  • 其他最終用戶
  • 全球罕見疾病基因檢測市場：依免疫疾病類型細分，實際及預測，2019-2024 年、2024-2029 年、2034 年
  • 自體免疫疾病
  • 過敏症狀
  • 原發性免疫力缺乏缺陷症
  • 發炎性疾病
  • 全球罕見疾病基因檢測市場：依心血管疾病類型細分，實際及預測，2019-2024 年、2024-2029 年、2034 年
  • 先天性心臟疾病
  • 心肌病
  • 主動脈瘤
  • 肺動脈高壓
  • 全球罕見疾病基因檢測市場：神經系統疾病細分（類型）、績效及預測，2019-2024 年、2024-2029 年、2034 年
  • 神經退化性疾病
  • 神經肌肉疾病
  • 癲癇症候群
  • 運動障礙
  • 全球罕見疾病基因檢測市場：神經系統疾病細分（類型）、績效及預測，2019-2024 年、2024-2029 年、2034 年
  • 神經退化性疾病
  • 神經肌肉疾病
  • 癲癇症候群
  • 運動障礙
  • 全球罕見疾病基因檢測市場：內分泌及代謝疾病類型細分、績效及預測（2019-2024 年、2024-2029 年及 2034 年）
  • 遺傳性代謝紊亂
  • 甲狀腺疾病
  • 腎上腺疾病
  • 糖尿病相關遺傳疾病
  • 全球罕見疾病基因檢測市場：依皮膚病類型細分，實際及預測，2019-2024 年、2024-2029 年、2034 年
  • 遺傳性皮膚病
  • 結締組織疾病
  • 色素沉著障礙
  • 角化障礙
  • 全球罕見疾病基因檢測市場：依疾病類型（其他）細分，實際及預測，2019-2024 年、2024-2029 年、2034 年
  • 骨骼發育不良
  • 腎臟遺傳性疾病
  • 遺傳性眼科疾病
  • 消化器官系統遺傳性疾病

第7章 區域和國家分析

  • 全球罕見疾病基因檢測市場：依地區、績效及預測，2019-2024 年、2024-2029 年、2034 年
  • 全球罕見疾病基因檢測市場：依國家/地區、績效及預測（2019-2024 年、2024-2029 年及 2034 年）

第8章 亞太市場

第9章：中國市場

第10章 印度市場

第11章 日本市場

第12章：澳洲市場

第13章 印尼市場

第14章 韓國市場

第15章 西歐市場

第16章英國市場

第17章：德國市場

第18章：法國市場

第19章：義大利市場

第20章：西班牙市場

第21章 東歐市場

第22章俄羅斯市場

第23章 北美市場

第24章美國市場

第25章：加拿大市場

第26章 南美洲市場

第27章：巴西市場

第28章 中東市場

第29章：非洲市場

第30章：競爭格局與公司概況

  • 罕見疾病基因檢測市場：競爭格局
  • 罕見疾病基因檢測市場：公司簡介
    • Thermo Fisher Scientific Inc. Overview, Products and Services, Strategy and Financial Analysis
    • Quest Diagnostics Inc. Overview, Products and Services, Strategy and Financial Analysis
    • Eurofins Scientific SE Overview, Products and Services, Strategy and Financial Analysis
    • Agilent Technologies Inc. Overview, Products and Services, Strategy and Financial Analysis
    • Illumina Inc. Overview, Products and Services, Strategy and Financial Analysis

第31章：其他領先和創新企業

  • QIAGEN NV
  • Natera Inc.
  • OPKO Health Inc.
  • Myriad Genetics Inc.
  • Fulgent Genetics Inc.
  • BioReference Laboratories Inc.
  • Invitae Corporation
  • Ambry Genetics Corporation
  • Centogene NV
  • Baylor Genetics Company
  • PreventionGenetics
  • Blueprint Genetics Oy
  • Realm IDX Inc.
  • Artemis DNA Inc.
  • BGI Genomics Co. Ltd.

第 32 章全球市場競爭基準化分析與儀表板

第33章 重大併購

第34章近期市場趨勢

第 35 章：高潛力市場國家、細分市場與策略

  • 2029年罕見疾病基因檢測市場：哪些國家將提供新機會
  • 2029年罕見疾病基因檢測市場：細分領域帶來新機會
  • 罕見疾病基因檢測市場2029年：成長策略
    • 基於市場趨勢的策略
    • 競爭對手策略

第36章 附錄

簡介目錄
Product Code: r37875

Rare disease genetic testing involves analyzing an individual's DNA to identify genetic mutations or variations that may cause or contribute to a rare disease. This testing enables accurate diagnosis, early intervention, and personalized treatment planning for patients with rare or undiagnosed conditions.

The primary disease types addressed by rare disease genetic testing include immunological disorders, cardiovascular disorders, neurological diseases, endocrine and metabolic disorders, hematological diseases, dermatological diseases, and others. Immunological disorders involve abnormal immune system function, which may manifest as overactivity, underactivity, or autoimmunity. These conditions are diagnosed using technologies such as next-generation sequencing, Sanger sequencing, polymerase chain reaction (PCR)-based testing, array-based testing, fluorescence in situ hybridization (FISH), and others. In terms of specialty testing, rare disease genetic testing is classified into molecular genetic tests, chromosomal genetic tests, and biochemical genetic tests, serving a diverse range of end users, including hospitals and clinics, research laboratories and contract research organizations (CROs), diagnostic laboratories, and other healthcare providers.

Note that the outlook for this market is being affected by rapid changes in trade relations and tariffs globally. The report will be updated prior to delivery to reflect the latest status, including revised forecasts and quantified impact analysis. The report's Recommendations and Conclusions sections will be updated to give strategies for entities dealing with the fast-moving international environment.

The sudden escalation of U.S. tariffs and the consequent trade frictions in spring 2025 are severely impacting the healthcare sector, particularly in the supply of critical medical devices, diagnostic equipment, and pharmaceuticals. Hospitals and healthcare providers are facing higher costs for imported surgical instruments, imaging equipment, and consumables such as syringes and catheters, many of which have limited domestic alternatives. These increased costs are straining healthcare budgets, leading some providers to delay equipment upgrades or pass on expenses to patients. Additionally, tariffs on raw materials and components are disrupting the production of essential drugs and devices, causing supply chain bottlenecks. In response, the industry is diversifying sourcing strategies, boosting local manufacturing where possible, and advocating for tariff exemptions on life-saving medical products.

The rare disease genetic testing market research report is one of a series of new reports from The Business Research Company that provides rare disease genetic testing market statistics, including rare disease genetic testing industry global market size, regional shares, competitors with a rare disease genetic testing market share, detailed rare disease genetic testing market segments, market trends and opportunities, and any further data you may need to thrive in the rare disease genetic testing industry. This rare disease genetic testing market research report delivers a complete perspective of everything you need, with an in-depth analysis of the current and future scenario of the industry.

The rare disease genetic testing market size has grown rapidly in recent years. It will grow from $1.03 billion in 2024 to $1.17 billion in 2025 at a compound annual growth rate (CAGR) of 13.6%. The growth in the historic period can be attributed to increasing awareness of rare genetic disorders, rising demand for early and accurate diagnosis, growing government funding for rare disease research, expanding availability of genetic testing services, increased investments in precision medicine, and a rising incidence of rare genetic conditions.

The rare disease genetic testing market size is expected to see rapid growth in the next few years. It will grow to $1.93 billion in 2029 at a compound annual growth rate (CAGR) of 13.3%. The growth in the forecast period can be attributed to increasing adoption of next-generation sequencing, rising focus on personalized medicine, growing investments in genetic research, expanding healthcare infrastructure in emerging markets, rising demand for diagnostic testing, increased hereditary cancer testing, and growing preference for non-invasive diagnostic solutions. Major trends in the forecast period include advancements in genome editing technologies, development of advanced bioinformatics tools for genetic data analysis, innovation in multi-gene panel testing, progress in portable genetic testing devices, and improvements in sample collection techniques.

The rising prevalence of genetic disorders is driving growth in the rare disease genetic testing market. Genetic disorders arise from DNA abnormalities, either inherited from one or both parents or caused by new mutations. Factors such as increasing parental age contribute to a higher likelihood of passing on genetic mutations. Rare disease genetic testing enables early and accurate detection of these conditions, supporting personalized treatment planning and improving patient outcomes. For example, in May 2024, the UK National Health Service reported that 17,000 people were living with sickle cell disease, an inherited genetic blood disorder, with approximately 250 new cases diagnosed each year, highlighting the ongoing need for genetic testing.

Key players are developing digital genomics platforms to enhance the speed, accuracy, and scalability of rare disease diagnosis. These platforms integrate genomic data analysis, interpretation, and reporting to streamline testing workflows. In March 2025, Strand Life Sciences Private Limited (India) launched the StrandOmics Portal, a digital genomics platform that provides clinicians with detailed insights into genetic variants, enabling faster and more precise diagnoses. The platform supports advanced variant interpretation, including prenatal diagnostics, and allows independent review of genetic data, reinforcing precision medicine efforts.

In January 2022, Exact Sciences Corporation (US) acquired Prevention Genetics LLC for \$190 million to expand its hereditary cancer testing capabilities. This acquisition strengthens Exact Sciences' genetic testing portfolio, accelerating access to hereditary cancer diagnostics and providing healthcare providers with more comprehensive genetic insights. Prevention Genetics specializes in rare disease diagnostics, complementing Exact Sciences' focus on precision medicine.

Major players in the rare disease genetic testing market are Thermo Fisher Scientific Inc., Quest Diagnostics Inc., Eurofins Scientific SE, Agilent Technologies Inc., Illumina Inc., QIAGEN N.V., Natera Inc., OPKO Health Inc., Myriad Genetics Inc., Fulgent Genetics Inc., BioReference Laboratories Inc., Invitae Corporation, Ambry Genetics Corporation, Centogene N.V., Baylor Genetics Company, PreventionGenetics, Blueprint Genetics Oy, Realm IDX Inc., Artemis DNA Inc., BGI Genomics Co. Ltd.

North America was the largest region in the rare disease genetic testing market in 2024. Asia-Pacific is expected to be the fastest-growing region in the forecast period. The regions covered in rare disease genetic testing market report are Asia-Pacific, Western Europe, Eastern Europe, North America, South America, Middle East and Africa.

The countries covered in the rare disease genetic testing market report are Australia, Brazil, China, France, Germany, India, Indonesia, Japan, Russia, South Korea, UK, USA, Canada, Italy, Spain.

The rare disease genetic testing market consists of revenues earned by entities by providing services such as whole exome sequencing, targeted gene panel testing, whole genome sequencing, carrier screening, and newborn genetic screening. The market value includes the value of related goods sold by the service provider or included within the service offering. The rare disease genetic testing market also includes sales of genetic testing kits, bioinformatics software, next-generation sequencing (NGS) platforms, laboratory reagents and consumables, and targeted gene panels. Values in this market are 'factory gate' values; that is, the value of goods sold by the manufacturers or creators of the goods, whether to other entities (including downstream manufacturers, wholesalers, distributors, and retailers) or directly to end customers. The value of goods in this market includes related services sold by the creators of the goods.

The market value is defined as the revenues that enterprises gain from the sale of goods and/or services within the specified market and geography through sales, grants, or donations in terms of the currency (in USD unless otherwise specified).

The revenues for a specified geography are consumption values that are revenues generated by organizations in the specified geography within the market, irrespective of where they are produced. It does not include revenues from resales along the supply chain, either further along the supply chain or as part of other products.

Rare Disease Genetic Testing Global Market Report 2025 from The Business Research Company provides strategists, marketers and senior management with the critical information they need to assess the market.

This report focuses on rare disease genetic testing market which is experiencing strong growth. The report gives a guide to the trends which will be shaping the market over the next ten years and beyond.

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Where is the largest and fastest growing market for rare disease genetic testing ? How does the market relate to the overall economy, demography and other similar markets? What forces will shape the market going forward, including technological disruption, regulatory shifts, and changing consumer preferences? The rare disease genetic testing market global report from the Business Research Company answers all these questions and many more.

The report covers market characteristics, size and growth, segmentation, regional and country breakdowns, competitive landscape, market shares, trends and strategies for this market. It traces the market's historic and forecast market growth by geography.

  • The market characteristics section of the report defines and explains the market.
  • The market size section gives the market size ($b) covering both the historic growth of the market, and forecasting its development.
  • The forecasts are made after considering the major factors currently impacting the market. These include:

The forecasts are made after considering the major factors currently impacting the market. These include the technological advancements such as AI and automation, Russia-Ukraine war, trade tariffs (government-imposed import/export duties), elevated inflation and interest rates.

  • Market segmentations break down the market into sub markets.
  • The regional and country breakdowns section gives an analysis of the market in each geography and the size of the market by geography and compares their historic and forecast growth.
  • The competitive landscape chapter gives a description of the competitive nature of the market, market shares, and a description of the leading companies. Key financial deals which have shaped the market in recent years are identified.
  • The trends and strategies section analyses the shape of the market as it emerges from the crisis and suggests how companies can grow as the market recovers.

Scope

  • Markets Covered:1) By Disease Type: Immunological Disorders; Cardiovascular Disorders; Neurological Disease; Endocrine And Metabolism Disorders Diseases; Hematological Diseases; Dermatological Disease; Other Disease Types
  • 2) By Technology: Next-Generation Sequencing; Sanger Sequencing; Polymerase Chain Reaction Based Testing; Array Based Testing; Fluorescence In Situ Hybridization; Other Technologies
  • 3) By Specialty: Molecular Genetic Tests; Chromosomal Genetic Tests; Biochemical Genetic Tests
  • 4) By End-User: Hospitals And Clinics; Research Laboratories And Contract Research Organizations; Diagnostic Laboratories; Other End Users
  • Subsegments:
  • 1) By Immunological Disorders: Autoimmune Disorders; Allergic Conditions; Primary Immunodeficiency Disorders; Inflammatory Disorders
  • 2) By Cardiovascular Disorders: Congenital Heart Defects; Cardiomyopathies; Aortic Aneurysms; Pulmonary Hypertension
  • 3) By Neurological Disease: Neurodegenerative Disorders; Neuromuscular Disorders; Epileptic Syndromes; Movement Disorders
  • 4) By Endocrine And Metabolism Disorders Diseases: Inherited Metabolic Disorders; Thyroid Disorders; Adrenal Disorders; Diabetes Related Genetic Conditions
  • 5) By Hematological Diseases: Hemophilia; Thalassemia; Sickle Cell Disease; Clotting Disorders
  • 6) By Dermatological Disease: Genetic Skin Disorders; Connective Tissue Disorders; Pigmentary Disorders; Keratinization Disorders
  • 7) By Other Disease Types: Skeletal Dysplasia; Renal Genetic Disorders; Ophthalmic Genetic Conditions; Gastrointestinal Genetic Conditions
  • Companies Mentioned: Thermo Fisher Scientific Inc.; Quest Diagnostics Inc.; Eurofins Scientific SE; Agilent Technologies Inc.; Illumina Inc.; QIAGEN N.V.; Natera Inc.; OPKO Health Inc.; Myriad Genetics Inc.; Fulgent Genetics Inc.; BioReference Laboratories Inc.; Invitae Corporation; Ambry Genetics Corporation; Centogene N.V.; Baylor Genetics Company; PreventionGenetics; Blueprint Genetics Oy; Realm IDX Inc.; Artemis DNA Inc.; BGI Genomics Co. Ltd.
  • Countries: Australia; Brazil; China; France; Germany; India; Indonesia; Japan; Russia; South Korea; UK; USA; Canada; Italy; Spain
  • Regions: Asia-Pacific; Western Europe; Eastern Europe; North America; South America; Middle East; Africa
  • Time Series: Five years historic and ten years forecast.
  • Data: Ratios of market size and growth to related markets, GDP proportions, expenditure per capita,
  • Data Segmentations: country and regional historic and forecast data, market share of competitors, market segments.
  • Sourcing and Referencing: Data and analysis throughout the report is sourced using end notes.
  • Delivery Format: PDF, Word and Excel Data Dashboard.

Table of Contents

1. Executive Summary

2. Rare Disease Genetic Testing Market Characteristics

3. Rare Disease Genetic Testing Market Trends And Strategies

4. Rare Disease Genetic Testing Market - Macro Economic Scenario Including The Impact Of Interest Rates, Inflation, Geopolitics, Trade Wars and Tariffs, And Covid And Recovery On The Market

  • 4.1. Supply Chain Impact from Tariff War & Trade Protectionism

5. Global Rare Disease Genetic Testing Growth Analysis And Strategic Analysis Framework

  • 5.1. Global Rare Disease Genetic Testing PESTEL Analysis (Political, Social, Technological, Environmental and Legal Factors, Drivers and Restraints)
  • 5.2. Analysis Of End Use Industries
  • 5.3. Global Rare Disease Genetic Testing Market Growth Rate Analysis
  • 5.4. Global Rare Disease Genetic Testing Historic Market Size and Growth, 2019 - 2024, Value ($ Billion)
  • 5.5. Global Rare Disease Genetic Testing Forecast Market Size and Growth, 2024 - 2029, 2034F, Value ($ Billion)
  • 5.6. Global Rare Disease Genetic Testing Total Addressable Market (TAM)

6. Rare Disease Genetic Testing Market Segmentation

  • 6.1. Global Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Immunological Disorders
  • Cardiovascular Disorders
  • Neurological Disease
  • Endocrine And Metabolism Disorders Diseases
  • Hematological Diseases
  • Dermatological Disease
  • Other Disease Types
  • 6.2. Global Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Next-Generation Sequencing
  • Sanger Sequencing
  • Polymerase Chain Reaction Based Testing
  • Array Based Testing
  • Fluorescence In Situ Hybridization
  • Other Technologies
  • 6.3. Global Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Molecular Genetic Tests
  • Chromosomal Genetic Tests
  • Biochemical Genetic Tests
  • 6.4. Global Rare Disease Genetic Testing Market, Segmentation By End-User, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Hospitals And Clinics
  • Research Laboratories And Contract Research Organizations
  • Diagnostic Laboratories
  • Other End Users
  • 6.5. Global Rare Disease Genetic Testing Market, Sub-Segmentation Of Immunological Disorders, By Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Autoimmune Disorders
  • Allergic Conditions
  • Primary Immunodeficiency Disorders
  • Inflammatory Disorders
  • 6.6. Global Rare Disease Genetic Testing Market, Sub-Segmentation Of Cardiovascular Disorders, By Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Congenital Heart Defects
  • Cardiomyopathies
  • Aortic Aneurysms
  • Pulmonary Hypertension
  • 6.7. Global Rare Disease Genetic Testing Market, Sub-Segmentation Of Neurological Disease, By Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Neurodegenerative Disorders
  • Neuromuscular Disorders
  • Epileptic Syndromes
  • Movement Disorders
  • 6.8. Global Rare Disease Genetic Testing Market, Sub-Segmentation Of Neurological Disease, By Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Neurodegenerative Disorders
  • Neuromuscular Disorders
  • Epileptic Syndromes
  • Movement Disorders
  • 6.9. Global Rare Disease Genetic Testing Market, Sub-Segmentation Of Endocrine And Metabolism Disorders Diseases, By Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Inherited Metabolic Disorders
  • Thyroid Disorders
  • Adrenal Disorders
  • Diabetes Related Genetic Conditions
  • 6.10. Global Rare Disease Genetic Testing Market, Sub-Segmentation Of Dermatological Disease, By Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Genetic Skin Disorders
  • Connective Tissue Disorders
  • Pigmentary Disorders
  • Keratinization Disorders
  • 6.11. Global Rare Disease Genetic Testing Market, Sub-Segmentation Of Other Disease Types, By Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • Skeletal Dysplasias
  • Renal Genetic Disorders
  • Ophthalmic Genetic Conditions
  • Gastrointestinal Genetic Conditions

7. Rare Disease Genetic Testing Market Regional And Country Analysis

  • 7.1. Global Rare Disease Genetic Testing Market, Split By Region, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 7.2. Global Rare Disease Genetic Testing Market, Split By Country, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

8. Asia-Pacific Rare Disease Genetic Testing Market

  • 8.1. Asia-Pacific Rare Disease Genetic Testing Market Overview
  • Region Information, Market Information, Background Information, Government Initiatives, Regulations, Regulatory Bodies, Major Associations, Taxes Levied, Corporate Tax Structure, Investments, Major Companies
  • 8.2. Asia-Pacific Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 8.3. Asia-Pacific Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 8.4. Asia-Pacific Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

9. China Rare Disease Genetic Testing Market

  • 9.1. China Rare Disease Genetic Testing Market Overview
  • 9.2. China Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F,$ Billion
  • 9.3. China Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F,$ Billion
  • 9.4. China Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F,$ Billion

10. India Rare Disease Genetic Testing Market

  • 10.1. India Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 10.2. India Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 10.3. India Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

11. Japan Rare Disease Genetic Testing Market

  • 11.1. Japan Rare Disease Genetic Testing Market Overview
  • 11.2. Japan Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 11.3. Japan Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 11.4. Japan Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

12. Australia Rare Disease Genetic Testing Market

  • 12.1. Australia Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 12.2. Australia Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 12.3. Australia Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

13. Indonesia Rare Disease Genetic Testing Market

  • 13.1. Indonesia Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 13.2. Indonesia Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 13.3. Indonesia Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

14. South Korea Rare Disease Genetic Testing Market

  • 14.1. South Korea Rare Disease Genetic Testing Market Overview
  • 14.2. South Korea Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 14.3. South Korea Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 14.4. South Korea Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

15. Western Europe Rare Disease Genetic Testing Market

  • 15.1. Western Europe Rare Disease Genetic Testing Market Overview
  • 15.2. Western Europe Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 15.3. Western Europe Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 15.4. Western Europe Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

16. UK Rare Disease Genetic Testing Market

  • 16.1. UK Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 16.2. UK Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 16.3. UK Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

17. Germany Rare Disease Genetic Testing Market

  • 17.1. Germany Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 17.2. Germany Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 17.3. Germany Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

18. France Rare Disease Genetic Testing Market

  • 18.1. France Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 18.2. France Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 18.3. France Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

19. Italy Rare Disease Genetic Testing Market

  • 19.1. Italy Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 19.2. Italy Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 19.3. Italy Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

20. Spain Rare Disease Genetic Testing Market

  • 20.1. Spain Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 20.2. Spain Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 20.3. Spain Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

21. Eastern Europe Rare Disease Genetic Testing Market

  • 21.1. Eastern Europe Rare Disease Genetic Testing Market Overview
  • 21.2. Eastern Europe Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 21.3. Eastern Europe Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 21.4. Eastern Europe Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

22. Russia Rare Disease Genetic Testing Market

  • 22.1. Russia Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 22.2. Russia Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 22.3. Russia Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

23. North America Rare Disease Genetic Testing Market

  • 23.1. North America Rare Disease Genetic Testing Market Overview
  • 23.2. North America Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 23.3. North America Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 23.4. North America Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

24. USA Rare Disease Genetic Testing Market

  • 24.1. USA Rare Disease Genetic Testing Market Overview
  • 24.2. USA Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 24.3. USA Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 24.4. USA Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

25. Canada Rare Disease Genetic Testing Market

  • 25.1. Canada Rare Disease Genetic Testing Market Overview
  • 25.2. Canada Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 25.3. Canada Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 25.4. Canada Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

26. South America Rare Disease Genetic Testing Market

  • 26.1. South America Rare Disease Genetic Testing Market Overview
  • 26.2. South America Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 26.3. South America Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 26.4. South America Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

27. Brazil Rare Disease Genetic Testing Market

  • 27.1. Brazil Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 27.2. Brazil Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 27.3. Brazil Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

28. Middle East Rare Disease Genetic Testing Market

  • 28.1. Middle East Rare Disease Genetic Testing Market Overview
  • 28.2. Middle East Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 28.3. Middle East Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 28.4. Middle East Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

29. Africa Rare Disease Genetic Testing Market

  • 29.1. Africa Rare Disease Genetic Testing Market Overview
  • 29.2. Africa Rare Disease Genetic Testing Market, Segmentation By Disease Type, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 29.3. Africa Rare Disease Genetic Testing Market, Segmentation By Technology, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion
  • 29.4. Africa Rare Disease Genetic Testing Market, Segmentation By Specialty, Historic and Forecast, 2019-2024, 2024-2029F, 2034F, $ Billion

30. Rare Disease Genetic Testing Market Competitive Landscape And Company Profiles

  • 30.1. Rare Disease Genetic Testing Market Competitive Landscape
  • 30.2. Rare Disease Genetic Testing Market Company Profiles
    • 30.2.1. Thermo Fisher Scientific Inc. Overview, Products and Services, Strategy and Financial Analysis
    • 30.2.2. Quest Diagnostics Inc. Overview, Products and Services, Strategy and Financial Analysis
    • 30.2.3. Eurofins Scientific SE Overview, Products and Services, Strategy and Financial Analysis
    • 30.2.4. Agilent Technologies Inc. Overview, Products and Services, Strategy and Financial Analysis
    • 30.2.5. Illumina Inc. Overview, Products and Services, Strategy and Financial Analysis

31. Rare Disease Genetic Testing Market Other Major And Innovative Companies

  • 31.1. QIAGEN N.V.
  • 31.2. Natera Inc.
  • 31.3. OPKO Health Inc.
  • 31.4. Myriad Genetics Inc.
  • 31.5. Fulgent Genetics Inc.
  • 31.6. BioReference Laboratories Inc.
  • 31.7. Invitae Corporation
  • 31.8. Ambry Genetics Corporation
  • 31.9. Centogene N.V.
  • 31.10. Baylor Genetics Company
  • 31.11. PreventionGenetics
  • 31.12. Blueprint Genetics Oy
  • 31.13. Realm IDX Inc.
  • 31.14. Artemis DNA Inc.
  • 31.15. BGI Genomics Co. Ltd.

32. Global Rare Disease Genetic Testing Market Competitive Benchmarking And Dashboard

33. Key Mergers And Acquisitions In The Rare Disease Genetic Testing Market

34. Recent Developments In The Rare Disease Genetic Testing Market

35. Rare Disease Genetic Testing Market High Potential Countries, Segments and Strategies

  • 35.1 Rare Disease Genetic Testing Market In 2029 - Countries Offering Most New Opportunities
  • 35.2 Rare Disease Genetic Testing Market In 2029 - Segments Offering Most New Opportunities
  • 35.3 Rare Disease Genetic Testing Market In 2029 - Growth Strategies
    • 35.3.1 Market Trend Based Strategies
    • 35.3.2 Competitor Strategies

36. Appendix

  • 36.1. Abbreviations
  • 36.2. Currencies
  • 36.3. Historic And Forecast Inflation Rates
  • 36.4. Research Inquiries
  • 36.5. The Business Research Company
  • 36.6. Copyright And Disclaimer