日本體外診斷定序（NGS）市場（按細分市場：定序設備、樣本製備、定序檢測－NIPT、腫瘤學、遺傳學、感染疾病），企業市場占有率分析、市場動態及近期趨勢－至2030年的預測

日本體外診斷定序（NGS）市場預計將從2025年的3,740萬美元成長到2030年的5,700萬美元以上，反映出基因組技術在臨床診斷和精準醫療領域的應用加速普及。該成長主要得益於次世代定序（NGS）技術在癌症治療、罕見疾病診斷、遺傳疾病檢測和感染疾病監測等領域的日益廣泛應用。日本完善的醫療基礎設施、不斷成長的基因組醫學投資以及政府主導的「國家癌症基因組分析計畫」等舉措，持續推動著定序技術從實驗室向常規臨床實踐的轉化。

隨著醫療專業人員擴大利用綜合基因組分析（CGP）來識別具有臨床應用價值的基因突變並最佳化標靶治療策略，腫瘤學已成為日本體外診斷定序市場最大的應用領域。癌症發生率的上升、伴隨療法的廣泛應用以及腫瘤譜分析在臨床上的日益普及，都推動了各大癌症中心定序的需求。除了腫瘤學之外，NGS在罕見疾病診斷、遺傳疾病篩檢、生殖醫學應用以及感染疾病監測等領域的應用也日益廣泛，進一步提升了其臨床意義。

技術進步正進一步推動市場擴張。定序準確性的提高、週轉時間的縮短、樣本製備的自動化以及定序成本的降低，使得NGS技術更容易被臨床檢查室所採用。此外，診斷公司、製藥公司和學術研究機構之間的合作加速生物標記的發現，並支持開發針對日本人群的精準診斷方法。

全球定序技術供應商和國內診斷公司不斷拓展基因組偵測能力，主導了市場競爭格局的發展。Roche、Illumina、Thermo Fisher Scientific和Sysmex Corporation等領導企業在定序儀器、耗材和生物資訊解決方案領域持續保持強勁動力，支撐市場在2030年前的持續成長。

近期趨勢

• 2025年8月，Illumina公司與Sysmex公司簽署獨家經銷協議，由Sysmex公司在日本經銷和銷售其TruSight Oncology（TSO）綜合癌症基因組分析系統。該系統是一種用於臨床的癌症基因組分析檢測產品。根據該協議，Sysmex將成為Illumina公司TSO綜合癌症基因組分析系統在日本的獨家經銷商，並負責銷售和市場推廣活動。
• 2025年7月，Thermo Fisher Scientific公司宣布，美國食品藥物管理局（FDA）已批准Oncomine Dx Express檢測（在Ion Torrent Genexus Dx整合定序儀上進行）作為體外診斷（IVD）檢測，用於Dizal的ZEGFROVY (sunvozertinib)的伴隨診斷（CDx）和腫瘤譜分析。此次批准將使快速的次世代定序（NGS）能夠在更靠近患者接受治療地點的分散式臨床環境中應用。此檢測可在短短24小時內提供關鍵的基因組資訊，這將提高精準腫瘤學工具的可用性，並有助於更及時地做出決策。
• 2025年5月，Illumina公司旗下的TruSight Oncology（TSO）Comprehensive檢測獲得日本厚生勞動省（MHLW）批准，成為III類和IV類醫療設備（特殊管制醫療設備）。隨著基因組分析不斷推動癌症治療的重大進步，該檢測目的是讓腫瘤科醫生和患者更容易獲得精準腫瘤學服務。這項單一檢測包含DNA和RNA突變分析，分析超過500個基因，進而建構患者的固態腫瘤圖譜。這提高了識別臨床適用生物標記的可能性，進而支持標靶治療的選擇和臨床試驗的參與。此綜合基因組檢測（CGP）採用精簡的自動化「檢體到報告」工作流程，幫助日本臨床醫師更快、更有效率地做出個人化醫療決策。

細分市場分析 - 日本體外診斷定序（NGS）市場 - 要點

• 在日本體外定序（NGS）市場中，定序檢測佔最大佔有率，這主要歸功於其在腫瘤學領域的廣泛應用，可用於全面的基因組分析、生物標記識別和精準治療方案選擇。癌症發生率的上升、伴隨診斷的普及以及癌症基因組檢測保險償付的增加，持續鞏固了這一領域的領先地位。同時，基因檢測也呈現穩定成長，這主要得益於對罕見疾病診斷和遺傳疾病篩檢需求的不斷成長。此外，非侵入性產前檢測（NIPT）正迅速崛起為高成長領域，這得益於高齡生產數量的增加、人們對產前基因篩檢意識的提高以及無細胞DNA測序技術的進步。這些應用共同推動了NGS在日本醫療保健系統中的臨床應用不斷擴展。
• 定序檢測市場由Roche和Thermo Fisher Scientific主導，這兩家公司憑藉全面的定序解決方案、癌症特異性檢測產品組合以及與醫院、癌症中心和實驗室建立的合作關係，在日本臨床 NGS 市場佔據了強大的地位。
• 定序設備是日本體外診斷定序（NGS）市場的另一個關鍵組成部分，這主要得益於醫院、大學附屬醫院和合約實驗室為提升基因組檢測能力而持續加大投資。市場需求的驅動力在於，為了支持日益成長的臨床檢測量，尤其是在腫瘤學和遺傳疾病領域，對更高通量平台、更定序和更快檢測結果的需求。
• Illumina公司憑藉其強大的高通量桌上型定序平台產品組合，在日本體外診斷定序（NGS）儀器市場佔據領先地位。這些平台被醫院、大學附屬醫院和實驗室廣泛採用。其領先地位得益於高定序準確性、擴充性的工作流程、廣泛的臨床檢驗以及大規模部署的成功經驗，使其成為日本腫瘤學、罕見疾病和基因組學領域的首選平台。
• 儘管樣本製備在日本體外定序（NGS）市場中所佔佔有率相對較小，但它仍然是定序流程中非常重要的環節。隨著臨床定序檢測的增加，對樣本製備的需求也在不斷成長，因為高品質的核酸萃取、樣品製備和靶向序列捕獲對於獲得準確且可重複的定序結果非常重要。 Illumina憑藉其主導的產品組合（包括樣品製備盒、靶向序列捕獲解決方案和整合工作流程產品），在日本體外診斷定序（NGS）樣本製備市場佔據領先地位。

iGATE 研究報告《日本 IVD定序（NGS）市場（按定序、樣本製備、定序測試 - NIPT、腫瘤學、遺傳學、感染疾病）、企業市場占有率分析、市場動態和近期趨勢 - 預測至2030年》對快速發展且高成長的日本 IVD定序（NGS）市場進行了全面評估。

本報告從以下九個角度分析：

• （1）日本體外診斷定序（NGS）市場及預測（2021-2030）
• （2）日本體外定序（NGS）細分市場佔有率及預測（2021-2030年）
• （3）日本體外定序（NGS）市場佔有率及預測（2021-2030年）
• （4）日本體外診斷定序（NGS） - 定序設備市場及預測（2021-2030）
• （5）日本體外診斷定序（NGS） - 樣品製備市場及預測（2021-2030）
• （6）日本體外診斷定序（NGS） - 定序檢測市場及預測（2021-2030）
• （7）日本體外診斷定序（NGS）市場 - 主要參與者的公司簡介
• （8）日本體外診斷定序（NGS）市場 - 近期趨勢
• （9）日本體外診斷定序（NGS）市場 - 市場動態

基於細分市場的日本體外診斷定序（NGS）市場及預測

1.定序設備

2.樣品製備

3.定序測試

• NIPT
• 腫瘤學
• 遺傳學
• 感染疾病

日本體外診斷（IVD）定序（NGS）市場 - 公司分析

1.Roche

2.Sysmex

3.Thermo Fisher Scientific

4.Illumina

5.其他

資料來源

iGATE Research採用嚴謹的一手和二手研究調查方法，建立自有資料集和研究資料，用於編製商業報告。本報告的資料和資訊來自專有資訊資料庫、一手和二手調查方法，以及iGATE Research內部一支經驗豐富的專家團隊的分析。

目錄

第1章 執行摘要

第2章 調查方法

第3章 體外診斷醫療器材（IVD） - 日本次世代定序（NGS）市場及預測（2021-2030）

第4章 體外診斷醫療器材（IVD） - 日本次世代定序（NGS）市場佔有率及預測（2021-2030年）

• 依細分市場
• 依公司

第5章 日本體外診斷定序（NGS） - 定序設備市場及預測（2021-2030）

• 日本定序設備市場及預測
• 依公司

第6章 體外診斷定序（NGS） - 日本樣本製備市場及預測（2021-2030）

• 日本 - 樣品製備市場及預測
• 依公司

第7章 日本體外診斷定序（NGS） - 定序檢測市場及預測（2021-2030年）

• 日本 - 定序檢測市場及預測
• 依公司

第8章 日本體外診斷定序（NGS）市場 - 公司概況

• Roche
• Sysmex
• Thermo Fisher Scientific
• Illumina
• 其他

第9章 日本體外診斷定序（NGS）市場 - 近期趨勢

第10章 日本體外診斷定序（NGS） - 市場動態

• 日本體外診斷定序（NGS）市場 - 成長要素
• 日本體外診斷定序（NGS）市場 - 挑戰

The Japan IVD Sequencing (NGS) market is projected to increase from US$ 37.4 Million in 2025, to over US$ 57.0 Million by 2030, reflecting the country's accelerating adoption of genomic technologies in clinical diagnostics and precision medicine. The expansion is being driven by increasing integration of next-generation sequencing (NGS) into oncology, rare disease diagnosis, inherited disorder testing, and infectious disease surveillance. Japan's strong healthcare infrastructure, growing investment in genomic medicine, and government-backed initiatives such as the national cancer genome profiling programme continue to support the transition of sequencing technologies from research laboratories into routine clinical practice.

Oncology represents the largest application segment within the Japan IVD sequencing market, as healthcare providers increasingly utilize comprehensive genomic profiling (CGP) to identify clinically actionable genetic alterations and optimize targeted treatment strategies. Rising cancer incidence, expanding availability of companion therapeutics, and broader clinical adoption of tumor profiling are driving sequencing demand across major cancer centers. Beyond oncology, NGS is increasingly being used for rare disease diagnosis, inherited disorder screening, reproductive health applications, and infectious disease surveillance, further expanding its clinical relevance.

Technological advancements are further strengthening market expansion. Improvements in sequencing accuracy, faster turnaround times, automated sample preparation, and declining sequencing costs are making NGS more accessible for clinical laboratories. Moreover, collaborations between diagnostic companies, pharmaceutical manufacturers, and academic research centres are accelerating biomarker discovery and supporting the development of precision diagnostics tailored to the Japanese population.

The competitive landscape is led by global sequencing technology providers alongside domestic diagnostics companies that are expanding their genomic testing capabilities. Major participants such as Roche, Illumina, Thermo Fisher Scientific and Sysmex Corporation continue to maintain strong positions across sequencing instruments, consumables, and bioinformatics solutions, supporting sustained market growth through 2030.

Recent Developments

• In August 2025, Illumina Inc. entered into an exclusive distribution agreement with Sysmex Corporation for the distribution and sales of the TruSight Oncology (TSO) Comprehensive Panel System, a cancer genome profiling test for domestic clinical use, in Japan. Under this agreement, Sysmex will be the exclusive distributor of Illumina's TSO Comprehensive Panel System in Japan, handling sales and marketing activities.
• In July 2025, Thermo Fisher Scientific announced that the U.S. Food and Drug Administration (FDA) has approved the Oncomine Dx Express Test on the Ion Torrent Genexus Dx Integrated Sequencer as an in vitro diagnostic (IVD) assay for use as a companion diagnostic (CDx) for Dizal's ZEGFROVY (sunvozertinib) and in tumor profiling. This approval brings rapid next-generation sequencing (NGS) to decentralized clinical settings closer to where patients receive care. With the ability to deliver essential genomic insights in as little as 24 hours, this approval helps advance the accessibility of precision oncology tools and enables more timely decision making.
• In May 2025, Illumina, Inc. received approval from the Ministry of Health, Labour and Welfare (MHLW) for TruSight Oncology (TSO) Comprehensive for Class III/IV Medical Device (Specially Controlled Medical Device) in Japan. As genomic insights continue to drive breakthroughs in cancer treatment, the test is designed to make precision oncology more accessible to oncologists and patients. This single test includes analysis of DNA and RNA variants and interrogates over 500 genes to profile a patient's solid tumor, helping to increase the likelihood of identifying clinically actionable biomarkers that enable targeted therapy selection or clinical trial enrolment. This CGP test is powered by a streamlined, automated sample-to-report workflow, will enable clinicians in Japan to accelerate access to personalized medicine decisions with greater efficiency and precision.

By Segment: Japan IVD Sequencing (NGS) Market - Key Takeaways

• Sequencing testing accounts for the largest share of the Japan IVD Sequencing (NGS) market, primarily driven by its widespread adoption in oncology for comprehensive genomic profiling, biomarker identification, and precision treatment selection. The increasing prevalence of cancer, expanding use of companion diagnostics, and growing reimbursement support for cancer genomic testing continue to reinforce the dominance of this segment. Meanwhile, genetic testing is witnessing steady growth due to rising demand for rare disease diagnosis and inherited disorder screening, while non-invasive prenatal testing (NIPT) is emerging as a high-growth segment, supported by increasing maternal age, growing awareness of prenatal genetic screening, and advancements in cell-free DNA sequencing technologies. Together, these applications are broadening the clinical adoption of NGS across Japan's healthcare system.
• Sequencing testing is dominated by Roche and Thermo Fisher Scientific, reflecting their strong presence in Japan's clinical NGS market through comprehensive sequencing solutions, oncology-focused testing portfolios, and established collaborations with hospitals, cancer centres, and reference laboratories.
• Sequencing instruments represent another major segment of the Japan IVD Sequencing (NGS) market, supported by continuous investments from hospitals, academic medical centres, and reference laboratories in expanding genomic testing capacity. Demand is being driven by the need for higher-throughput platforms, improved sequencing accuracy, and faster turnaround times to support growing clinical testing volumes, particularly in oncology and inherited disease applications.
• Illumina is the leading player in the Japan IVD Sequencing (NGS) instruments market, driven by its strong portfolio of high-throughput and benchtop sequencing platforms that are widely adopted by hospitals, academic medical centres, and reference laboratories. The company's leadership is supported by its high sequencing accuracy, scalable workflows, extensive clinical validation, and broad installed base, making it the preferred platform for oncology, rare disease, and genomic medicine applications across Japan.
• Sample preparation represents a smaller share of the Japan IVD Sequencing (NGS) market but remains a critical component of the sequencing workflow. Demand is increasing with the rising volume of clinical sequencing tests, as high-quality nucleic acid extraction, library preparation, and target enrichment are essential for generating accurate and reproducible sequencing results. Illumina is the leading player in the Japan IVD Sequencing (NGS) sample preparation market, supported by its comprehensive portfolio of library preparation kits, target enrichment solutions, and integrated workflow products.

iGATE Research report titled "Japan IVD Sequencing (NGS) Market (By Segment: Sequencing Instruments, Sample Preparation, Sequencing Testing - NIPT, Oncology, Genetics, Infectious Diseases), Company Share Analysis, Market Dynamics and Recent Developments - Forecast to 2030" provides a comprehensive assessment of the fast-evolving, high-growth Japan IVD Sequencing (NGS) Market.

This report has been analyzed from 9 viewpoints:

• (1) Japan IVD Sequencing (NGS) Market and Forecast (2021 - 2030)
• (2) By Segment - Japan IVD Sequencing (NGS) Market Share and Forecast (2021 - 2030)
• (3) By Company - Japan IVD Sequencing (NGS) Market Share and Forecast (2021 - 2030)
• (4) Japan IVD Sequencing (NGS) - Sequencing Instruments Market and Forecast (2021 - 2030)
• (5) Japan IVD Sequencing (NGS) - Sample Preparation Market and Forecast (2021 - 2030)
• (6) Japan IVD Sequencing (NGS) - Sequencing Testing Market and Forecast (2021 - 2030)
• (7) Japan IVD Sequencing (NGS) Market - Key Company Profiles
• (8) Japan IVD Sequencing (NGS) Market - Recent Developments
• (9) Japan IVD Sequencing (NGS) Market - Market Dynamics

By Segment: Japan IVD Sequencing (NGS) Market and Forecast

1. Sequencing Instruments

2. Sample Preparation

3. Sequencing Testing

• NIPT
• Oncology
• Genetics
• Infectious Diseases

Japan IVD Sequencing (NGS) Market - Company Analysis

1. Roche

2. Sysmex

3. Thermo Fisher Scientific

4. Illumina

5. Others

Data Sources

iGATE Research employs rigorous primary and secondary research techniques in developing distinctive data sets and research material for business reports. This report is built by using data and information sourced from Proprietary Information Database, Primary and Secondary Research Methodologies, and In house analysis by iGATE Research dedicated team of qualified professionals with deep industry experience and expertise.

Table of Contents

1. Executive Summary

2. Research Methodology

• 2.1 Research Design
• 2.2 Research Approach
• 2.3 Data Collection Methods
• 2.4 Market Assumptions

3. Japan IVD - Sequencing (NGS) Market and Forecast (2021 - 2030)

4. Japan IVD - Sequencing (NGS) Market Share and Forecast (2021 - 2030)

• 4.1 By Segment - Japan IVD Sequencing (NGS) Market Share and Forecast (2021 - 2030)
• 4.2 By Company - Japan IVD Sequencing (NGS) Market Share and Forecast (2021 - 2030)

5. Japan IVD Sequencing (NGS) - Sequencing Instruments Market and Forecast (2021 - 2030)

• 5.1 Japan - Sequencing Instruments Market and Forecast
• 5.2 By Company - Japan Sequencing Instruments Market Revenue & Forecast

6. Japan IVD Sequencing (NGS) - Sample Preparation Market and Forecast (2021 - 2030)

• 6.1 Japan - Sample Preparation Market and Forecast
• 6.2 By Company - Japan Sample Preparation Market Revenue & Forecast

7. Japan IVD Sequencing (NGS) - Sequencing Testing Market and Forecast (2021 - 2030)

• 7.1 Japan - Sequencing Testing Market and Forecast
• 7.2 By Company - Japan Sequencing Testing Market Revenue & Forecast
  • 7.2.1 Japan - NIPT Market and Forecast
  • 7.2.2 By Company - Japan NIPT Market Revenue & Forecast
  • 7.2.3 Japan - Oncology Market and Forecast
  • 7.2.4 By Company - Japan Oncology Market Revenue & Forecast
  • 7.2.5 Japan - Genetics Market and Forecast
  • 7.2.6 By Company - Japan Genetics Market Revenue & Forecast
  • 7.2.7 Japan - Infectious Diseases Market and Forecast
  • 7.2.8 By Company - Japan Infectious Diseases Market Revenue & Forecast

8. Japan IVD Sequencing (NGS) Market - Company Profiles

• 8.1 Roche
• 8.2 Sysmex
• 8.3 Thermo Fisher Scientific
• 8.4 Illumina
• 8.5 Others

9. Japan IVD Sequencing (NGS) Market - Recent Developments

10. Japan IVD Sequencing (NGS) - Market Dynamics

• 10.1 Japan IVD Sequencing (NGS) Market - Growth Drivers
• 10.2 Japan IVD Sequencing (NGS) Market - Challenges