希少疾患遺伝子検査市場-世界の産業規模、シェア、動向、機会、および予測、2018～2028年、疾患タイプ別、専門分野別、技術別、エンドユーザー別、地域別、競合

世界の希少疾患遺伝子検査市場は、2022年に7億8,983万米ドルと評価され、予測期間中に堅調な成長が見込まれ、予想年間平均成長率（CAGR）は8.04%で、2028年には12億4,963万米ドルに達すると予測されます。

希少疾患遺伝子検査は、希少疾患の原因となる遺伝子変異や変化を診断するものです。これらの疾患は有病率が低く、人口のごく一部にしか罹患しないです。多くの場合、特定の遺伝子の遺伝子変異や変化によって引き起こされます。希少疾患の遺伝子検査は、個人のDNAを分析し、症状や状態を引き起こしている可能性のある異常や変異を特定します。これにより、正確な診断、疾患の根本的な原因の理解、個別化された治療戦略の指針となります。希少疾患の遺伝子検査には、複数の遺伝子やゲノム全体を同時に解析できる次世代シーケンサー（NGS）など、さまざまな技術が用いられています。この技術は遺伝子検査の効率と精度を高め、希少遺伝子変異の検出を可能にします。

主な市場促進要因

希少疾患の有病率の増加が市場の成長を促進する：希少疾患の有病率の上昇は、世界の希少疾患遺伝子検査市場の重要な促進要因です。人口における希少疾患の有病率は3.5～5.9％と推定され、世界では約2億6,000万～4億4,000万人に相当します。遺伝学と希少疾患の理解が進むにつれて、遺伝子検査は正確で早期診断に不可欠なものとなっています。遺伝子検査は、希少疾病に関連する特定の遺伝子変異を同定し、診断を確定し、的を絞った治療計画を可能にします。医療プロバイダーや患者の間で希少疾患に対する認識が高まり、正確でタイムリーな診断に対する需要が高まっています。患者とその家族は、希少疾患が疑われる場合に遺伝子検査を受ける傾向が強く、市場の成長に寄与しています。個人の遺伝的体質に合わせた医療を行う精密医療の概念は、遺伝子検査の需要をさらに押し上げています。

個別化医療への需要の高まりが市場成長を牽引個別化医療に対する需要の高まりは、世界の希少疾患遺伝子検査市場に大きな影響を与えています。個別化医療は、遺伝的体質を含む個々の患者の特性に合わせて医療を調整することを含みます。遺伝子情報に基づいて、どの治療が最も効果的かを予測します。遺伝子検査は、希少疾患の根底にある遺伝子変異を特定し、診断を確定し、その原因を理解するために極めて重要です。個別化医療は、疾患の根本原因を標的とすることを目的としているため、遺伝子検査は治療法を調整するために不可欠です。遺伝子検査は、正確かつ早期の希少疾患の診断を可能にし、曖昧な症状や重複する症状を持つ疾患には特に重要です。正確な診断により、適切で効果的な治療選択肢が確保されます。遺伝子検査はまた、潜在的な創薬標的を同定し、治療反応を予測し、治療選択の指針となるため、標準的な治療法が限られている希少疾患では特に重要です。

認知度の向上と擁護が市場成長の原動力：希少疾患に対する認識とアドボカシーの高まりが、世界の希少疾患遺伝子検査市場の成長に寄与しています。約7,000の希少疾患が2,500万～3,000万人の米国人を罹患させており、これが認知度の上昇につながっています。アドボカシー活動により、希少疾患の管理における遺伝子検査の認知度が高まり、検査サービスの需要が高まる。認知度の向上とアドボカシー活動により、患者、医療プロバイダー、政策立案者の間で遺伝子検査への関心が高まる。希少疾患と遺伝子検査の重要性に関する認識が広まるにつれ、患者は正確な診断と個別化治療のために遺伝子検査を求めるようになります。アドボカシーのイニシアチブは、患者の転帰を改善するための早期診断の重要性を強調し、検査サービスに対する需要の高まりにつながっています。擁護団体、医療プロバイダー、研究者間の協力により、遺伝子検査へのアクセスと資金調達が改善され、市場の成長に寄与しています。

主な市場課題

診断の複雑さが検査課題をもたらす：希少疾患の診断の複雑さは、診断の遅れや誤診につながる可能性があります。医療プロバイダーは症状の根本的な原因を特定するのに苦労し、誤った治療や介入につながる可能性があります。希少疾患は症状が不均一で、標準化された診断基準がないことが多く、遺伝子検査が困難です。希少疾患の遺伝的基盤には複数の遺伝子やバリアントが関与していることがあり、正確な変異の同定を複雑にしています。希少疾患の遺伝子変異を正確に同定するためには、高度な検査技術とバイオインフォマティクス解析が必要です。

限られた知識と認識が検査の普及を妨げている：医療従事者の認識が限定的であることが、希少疾患に対する遺伝子検査の検討を妨げています。希少疾患の臨床像や遺伝的プロファイルに精通していないため、遺伝子検査が十分に活用されていないです。限られた知識による誤診は、不適切な治療をもたらします。医療提供者が特定の希少疾患に関連する遺伝子マーカーを認識していない可能性があるため、認知度の低さは遺伝子検査の選択に影響します。認知度の低さはまた、希少疾患の研究の進展や検査開発を遅らせる。

倫理的及びプライバシー上の懸念が検査の普及に影響する：倫理やプライバシーに関する懸念は、希少疾患の遺伝子検査の導入に影響します。遺伝学的検査に対するインフォームド・コンセントの取得は、特に希少疾患の場合、複雑です。遺伝子データに関するプライバシーやセキュリティの懸念は、検査への参加を妨げます。遺伝子検査により予期せぬ所見が明らかになることがあり、倫理的ジレンマが生じる。遺伝子データは、検査に同意していない家族にも影響を及ぼす可能性があります。倫理的配慮は文化的・宗教的信条に影響されるため、慎重な検査管理が必要となります。

主な市場動向

消費者直接検査（DTC）の成長：世界の希少疾患遺伝子検査市場におけるDTC検査の成長は、家系や健康形質など他の遺伝子検査分野に比べると比較的限定的であるが、その役割は果たしています。DTC検査は消費者に遺伝情報を提供し、希少疾病に関連するマーカーを特定する可能性があります。希少疾患に限定しなくても、DTC検査は一般的な遺伝学や健康に対する意識を高める。DTC検査は、疾患に関連する希少遺伝子変異を特定することができます。企業によっては、希少疾患の研究や発見を助けるために、遺伝子データを研究データベースに提供するオプションを提供しています。倫理的な懸念と規制の監督は、DTC検査の精度と影響に影響を与えます。

セグメント別洞察

疾患タイプ別洞察内分泌・代謝分野が2022年の希少疾患遺伝子検査市場を独占し、今後も成長が続くと予測されます。このカテゴリーの希少疾患の多くは、ホルモン産生や代謝に影響を及ぼす変異を伴う、明確な遺伝的基盤を有しています。遺伝子検査は早期診断と介入を助ける。遺伝子情報は個別化された治療計画を導き、特定の遺伝子変異を標的とし、転帰を改善します。

技術別洞察次世代シーケンシング（NGS）が2022年の希少疾患遺伝子検査市場を席巻し、今後も成長を続けるであろう。NGSは遺伝子検査に革命をもたらし、スピード、手頃な価格、正確さ、大規模な遺伝子データセットの解析を提供します。希少遺伝子変異の同定を支援し、診断と治療の精度を高める。

専門分野別洞察分子遺伝学的検査が2022年の希少疾患遺伝学的検査市場を席巻し、今後も成長を続けると予測されます。分子検査はDNA、RNA、タンパク質を分析し、希少疾患の診断、進行のモニタリング、リスクの特定を行う。

エンドユーザー別洞察2022年の希少疾患遺伝子検査市場は、調査・契約研究機関（CRO）が支配的であり、今後も成長を続けると予測されます。彼らは遺伝子検査を開発し、臨床試験を実施し、検査サービスを提供しています。研究開発およびCROは、希少疾患の遺伝的基盤を研究し、治療法を開発し、診断と管理を改善します。

地域別洞察

希少疾患遺伝子検査の世界市場は、米国とカナダを中心に北米がリードしています。これらの諸国は、遺伝子検査技術の開発、採用、統合を支える高度な医療インフラを有しています。この地域の希少疾患有病率の高さは、人口の高齢化や認知度の向上などの要因によるものです。この地域の優れた医療環境は、遺伝子検査の成長と採用を支えています。

目次

第1章 概要

第2章 調査手法

第3章 エグゼクティブサマリー

第4章 顧客の声

第5章 価格分析

第6章 希少疾患遺伝子検査の世界市場展望

• 市場規模と予測
  • 金額・数量別
• 市場シェアと予測
  • 疾患タイプ別（神経、CVD）
  • 専門分野別（分子、生化学）
  • 技術別（NGS、PCRベース）
  • エンドユーザー別（研究所・CRO、病院・クリニック、診断研究所）
  • 企業別（2022年）
  • 地域別
• 製品市場マップ

第7章 北米の希少疾患遺伝子検査市場展望

• 市場規模・予測
  • 金額・数量別
• 市場シェアと予測
  • 疾患タイプ別
  • 専門分野別
  • 技術別
  • エンドユーザー別
  • 国別
• 北米：国別分析
  • 米国
  • メキシコ
  • カナダ

第8章 欧州の希少疾患遺伝子検査市場展望

• 市場規模・予測
  • 金額・数量別
• 市場シェアと予測
  • 疾患タイプ別
  • 専門分野別
  • 技術別
  • エンドユーザー別
  • 国別
• 欧州：国別分析
  • フランス
  • ドイツ
  • 英国
  • イタリア
  • スペイン

第9章 アジア太平洋の希少疾患遺伝子検査市場展望

• 市場規模・予測
  • 金額・数量別
• 市場シェアと予測
  • 疾患タイプ別
  • 専門分野別
  • 技術別
  • エンドユーザー別
  • 国別
• アジア太平洋：国別分析
  • 中国
  • インド
  • 韓国
  • 日本
  • オーストラリア

第10章 南米の希少疾患遺伝子検査市場展望

• 市場規模・予測
  • 金額・数量別
• 市場シェアと予測
  • 疾患タイプ別
  • 専門分野別
  • 技術別
  • エンドユーザー別
  • 国別
• 南米：国別分析
  • ブラジル
  • アルゼンチン
  • コロンビア

第11章 中東・アフリカの希少疾患遺伝子検査市場展望

• 市場規模・予測
  • 金額・数量別
• 市場シェアと予測
  • 疾患タイプ別
  • 専門分野別
  • 技術別
  • エンドユーザー別
  • 国別
• 中東・アフリカ：国別分析
  • 南アフリカ
  • サウジアラビア
  • アラブ首長国連邦

第12章 市場力学

• 促進要因
• 課題

第13章 市場動向と発展

• 製品上市
• 合併と買収

第14章 PESTLE分析

第15章 ポーターのファイブフォース分析

• 業界内の競合
• 新規参入の可能性
• サプライヤーの力
• 顧客の力
• 代替品の脅威

第16章 競合情勢

• Centogene N.V.
• Invitae Corp.
• 3billion, Inc.
• Arup Laboratories
• Eurofins Scientific
• Strand Life Sciences
• Ambry Genetics
• Perkin Elmer, Inc.
• Realm IDX, Inc.
• Macrogen, Inc.

第17章 戦略的提言

The Global Rare Disease Genetic Testing Market was valued at USD 789.83 Million in 2022 and is expected to experience robust growth during the forecast period, with a projected Compound Annual Growth Rate (CAGR) of 8.04% and expected to reach USD 1249.63 Million through 2028. Rare Disease Genetic Testing involves the diagnosis of genetic mutations or alterations responsible for rare diseases. These diseases have a low prevalence, affecting only a small percentage of the population. They are often caused by genetic mutations or alterations in specific genes. Genetic testing for rare diseases analyzes an individual's DNA to identify abnormalities or mutations that may be causing their symptoms or condition. This aids in accurate diagnosis, understanding the underlying cause of the disease, and guiding personalized treatment strategies. Various techniques are used for rare disease genetic testing, including next-generation sequencing (NGS), which allows the analysis of multiple genes or the entire genome simultaneously. This technology enhances the efficiency and accuracy of genetic testing, enabling the detection of rare genetic mutations.

Key Market Drivers

Increasing Prevalence of Rare Diseases Drives Market Growth: The rising prevalence of rare diseases is a significant driver for the global rare disease genetic testing market. The prevalence rate of rare diseases in the population was estimated at 3.5-5.9%, translating to approximately 260-440 million people globally. As understanding of genetics and rare diseases improves, genetic testing becomes crucial for accurate and early diagnosis. It enables the identification of specific genetic mutations associated with rare diseases, confirming diagnoses, and enabling targeted treatment plans. Increased awareness of rare diseases among healthcare providers and patients has led to higher demand for accurate and timely diagnosis. Patients and their families are more likely to seek genetic testing for suspected rare diseases, contributing to market growth. The concept of precision medicine, which tailors medical care to an individual's genetic makeup, further drives the demand for genetic testing.

Increasing Demand for Personalized Medication Drives Market Growth: The growing demand for personalized medicine significantly influences the global rare disease genetic testing market. Personalized medicine involves tailoring medical treatment to individual patient characteristics, including genetic makeup. It anticipates which treatments will be most effective based on genetic information. Genetic testing is crucial for identifying genetic mutations underlying rare diseases, confirming diagnoses, and understanding their causes. Personalized medicine aims to target disease root causes, making genetic testing essential for treatment tailoring. Genetic testing enables precise and early rare disease diagnosis, especially important for conditions with vague or overlapping symptoms. Accurate diagnosis ensures appropriate and effective treatment options. Genetic testing also identifies potential drug targets, predicts treatment responses, and guides therapy selection, particularly important for rare diseases with limited standard treatments.

Increasing Awareness and Advocacy Drive Market Growth: Rising awareness and advocacy for rare diseases contribute to the growth of the global rare disease genetic testing market. Approximately 7,000 rare diseases affect 25-30 million Americans, leading to increased awareness. Advocacy efforts raise the profile of genetic testing in managing rare diseases, driving demand for testing services. Increased awareness and advocacy lead to greater genetic testing consideration among patients, healthcare providers, and policymakers. As awareness spreads about rare diseases and the importance of genetic testing, patients seek genetic testing for accurate diagnosis and personalized treatment. Advocacy initiatives emphasize early diagnosis significance for improved patient outcomes, leading to higher demand for testing services. Collaborations between advocacy groups, healthcare providers, and researchers improve genetic testing access and funding, contributing to market growth.

Key Market Challenges

Diagnostic Complexity Poses Testing Challenges: Rare diseases' complexity can lead to delayed or misdiagnosis. Healthcare providers may struggle to identify underlying causes of symptoms, leading to incorrect treatments or interventions. Rare diseases have heterogeneous symptoms and often lack standardized diagnostic criteria, making genetic testing challenging. Rare diseases' genetic basis can involve multiple genes and variants, complicating precise mutation identification. Advanced testing technologies and bioinformatics analysis are required to identify rare disease genetic mutations accurately.

Limited Knowledge and Awareness Hinders Testing Adoption: Limited awareness among healthcare providers hinders genetic testing consideration for rare diseases. Lack of familiarity with rare disease clinical presentations and genetic profiles leads to underutilization of genetic testing. Misdiagnosis due to limited knowledge results in inappropriate treatments. Limited awareness affects genetic testing selection, as providers may not recognize genetic markers associated with specific rare diseases. Limited awareness also slows rare disease research progress and test development.

Ethical and Privacy Concerns Impact Testing Uptake: Ethical and privacy concerns affect rare disease genetic testing adoption. Obtaining informed consent for genetic testing is complex, especially for rare diseases. Privacy and security concerns around genetic data discourage testing participation. Genetic testing may reveal unexpected findings, creating ethical dilemmas. Genetic data may also affect family members who have not consented to testing. Ethical considerations are influenced by cultural and religious beliefs, requiring careful testing management.

Key Market Trends

Growth of Direct-to-Consumer (DTC) Testing: While DTC testing's growth in the global rare disease genetic testing market is relatively limited compared to other genetic testing areas, such as ancestry or health traits, it plays a role. DTC tests empower consumers with genetic information, potentially identifying markers associated with rare diseases. Even if not exclusively for rare diseases, DTC testing increases general genetics and health awareness. DTC tests can identify rare genetic variants associated with conditions. Some companies offer options to contribute genetic data to research databases, aiding rare disease research and discoveries. Ethical concerns and regulatory oversight impact DTC testing's accuracy and implications.

Segmental Insights

Disease Type Insights: The Endocrine & Metabolism segment dominated the 2022 Rare Disease Genetic Testing market and is projected to continue growing. Many rare diseases in this category have clear genetic bases, with mutations affecting hormone production and metabolism. Genetic testing aids early diagnosis and intervention. Genetic information guides personalized treatment plans, targeting specific genetic mutations and improving outcomes.

Technology Insights: Next-Generation Sequencing (NGS) dominated the 2022 Rare Disease Genetic Testing market and will likely continue growing. NGS revolutionizes genetic testing, offering speed, affordability, accuracy, and the analysis of large genetic datasets. It aids the identification of rare genetic mutations and enhances diagnosis and treatment precision.

Specialty Insight: Molecular genetic tests dominated the 2022 Rare Disease Genetic Testing market and are predicted to continue growing. Molecular tests analyze DNA, RNA, or proteins, diagnosing rare diseases, monitoring progression, and identifying risk.

End-Use Industry Insights: Research & Contract Research Organizations (CROs) dominated the 2022 Rare Disease Genetic Testing market and will likely continue growing. They develop genetic tests, conduct trials, and offer testing services. Research & CROs study genetic bases of rare diseases, develop treatments, and improve diagnosis and management.

Regional Insights

North America leads the Global Rare Disease Genetic Testing Market, primarily the United States and Canada. These countries possess advanced healthcare infrastructure supporting genetic testing technology development, adoption, and integration. The region's high rare disease prevalence results from factors like an aging population and increased awareness. This region's prominent healthcare landscape supports genetic testing growth and adoption.

Key Market Players

• Centogene N.V.
• Invitae Corp.
• 3billion, Inc.
• Arup Laboratories
• Eurofins Scientific
• Strand Life Sciences
• Ambry Genetics
• Perkin Elmer, Inc.
• Realm IDX, Inc.
• Macrogen, Inc.
• Baylor Genetics

Report Scope:

In this report, the Global Rare Disease Genetic Testing Market has been segmented into the following categories, in addition to the industry trends which have also been detailed below:

Global Rare Disease Genetic Testing Market, By Disease Type:

• Neurological Disease
• Immunological Disorders
• Hematology Diseases
• Endocrine & Metabolism Diseases
• Cancer
• Musculoskeletal Disorders
• Cardiovascular Disorders (CVDs)
• Dermatology Disease
• Others

Global Rare Disease Genetic Testing Market, By Speciality:

• Molecular Genetic Tests
• Chromosomal Genetic Tests
• Biochemical Genetic Tests

Global Rare Disease Genetic Testing Market, By Technology:

• Next-Generation Sequencing (NGS)
• Whole Exome Sequencing
• Whole Genome Sequencing
• Array Technology
• PCR-based Testing
• FISH
• Sanger Sequencing
• Karyotyping

Global Rare Disease Genetic Testing Market, By End User:

• Research Laboratories & CROs
• Hospitals & Clinics
• Diagnostic Laboratories

Global Rare Disease Genetic Testing Market, By region:

• North America
• United States
• Canada
• Mexico
• Asia-Pacific
• China
• India
• South Korea
• Australia
• Japan
• Europe
• Germany
• France
• United Kingdom
• Spain
• Italy
• South America
• Brazil
• Argentina
• Colombia
• Middle East & Africa
• South Africa
• Saudi Arabia
• UAE

Competitive Landscape

• Company Profiles: Detailed analysis of the major companies present in the Global Rare Disease Genetic Testing Market.

Available Customizations:

• Global Rare Disease Genetic Testings Market report with the given market data, Tech Sci Research offers customizations according to a company's specific needs. The following customization options are available for the report:

Company Information

• Detailed analysis and profiling of additional market players (up to five).

Table of Contents

1. Product Overview

• 1.1. Market Definition
• 1.2. Scope of the Market
  • 1.2.1. Markets Covered
  • 1.2.2. Years Considered for Study
  • 1.2.3. Key Market Segmentations

2. Research Methodology

• 2.1. Objective of the Study
• 2.2. Baseline Methodology
• 2.3. Key Industry Partners
• 2.4. Major Association and Secondary Sources
• 2.5. Forecasting Methodology
• 2.6. Data Triangulation & Validation
• 2.7. Assumptions and Limitations

3. Executive Summary

• 3.1. Overview of the Market
• 3.2. Overview of Key Market Segmentations
• 3.3. Overview of Key Market Players
• 3.4. Overview of Key Regions/Countries
• 3.5. Overview of Market Drivers, Challenges, Trends

4. Voice of Customer

5. Pricing Analysis

6. Global Rare Disease Genetic Testing Market Outlook

• 6.1. Market Size & Forecast
  • 6.1.1. By Value & Volume
• 6.2. Market Share & Forecast
  • 6.2.1. By Disease Type (Neurological, CVDs)
  • 6.2.2. By Speciality (Molecular, Biochemical)
  • 6.2.3. By Technology (NGS, PCR-based)
  • 6.2.4. By End User (Research Laboratories & CROs, Hospitals & Clinics, Diagnostic Laboratories)
  • 6.2.5. By Company (2022)
  • 6.2.6. By Region
• 6.3. Product Market Map

7. North America Rare Disease Genetic Testing Market Outlook

• 7.1. Market Size & Forecast
  • 7.1.1. By Value & Volume
• 7.2. Market Share & Forecast
  • 7.2.1. By Disease Type
  • 7.2.2. Speciality
  • 7.2.3. Technology
  • 7.2.4. By End-Use Industry
  • 7.2.5. By Country
• 7.3. North America: Country Analysis
  • 7.3.1. United States Rare Disease Genetic Testing Market Outlook
    • 7.3.1.1. Market Size & Forecast
      • 7.3.1.1.1. By Value & Volume
    • 7.3.1.2. Market Share & Forecast
      • 7.3.1.2.1. By Disease Type
      • 7.3.1.2.2. By Speciality
      • 7.3.1.2.3. By Technology
      • 7.3.1.2.4. By End-Use Industry
  • 7.3.2. Mexico Rare Disease Genetic Testing Market Outlook
    • 7.3.2.1. Market Size & Forecast
      • 7.3.2.1.1. By Value & Volume
    • 7.3.2.2. Market Share & Forecast
      • 7.3.2.2.1. By Disease Type
      • 7.3.2.2.2. By Speciality
      • 7.3.2.2.3. By Technology
      • 7.3.2.2.4. By End-Use Industry
  • 7.3.3. Canada Rare Disease Genetic Testing Market Outlook
    • 7.3.3.1. Market Size & Forecast
      • 7.3.3.1.1. By Value & Volume
    • 7.3.3.2. Market Share & Forecast
      • 7.3.3.2.1. By Disease Type
      • 7.3.3.2.2. By Speciality
      • 7.3.3.2.3. By Technology
      • 7.3.3.2.4. By End-Use Industry

8. Europe Rare Disease Genetic Testing Market Outlook

• 8.1. Market Size & Forecast
  • 8.1.1. By Value & Volume
• 8.2. Market Share & Forecast
  • 8.2.1. By Disease Type
  • 8.2.2. By Speciality
  • 8.2.3. By Technology
  • 8.2.4. By End-Use Industry
  • 8.2.5. By Country
• 8.3. Europe: Country Analysis
  • 8.3.1. France Rare Disease Genetic Testing Market Outlook
    • 8.3.1.1. Market Size & Forecast
      • 8.3.1.1.1. By Value & Volume
    • 8.3.1.2. Market Share & Forecast
      • 8.3.1.2.1. By Disease Type
      • 8.3.1.2.2. By Speciality
      • 8.3.1.2.3. By Technology
      • 8.3.1.2.4. By End-Use Industry
  • 8.3.2. Germany Rare Disease Genetic Testing Market Outlook
    • 8.3.2.1. Market Size & Forecast
      • 8.3.2.1.1. By Value & Volume
    • 8.3.2.2. Market Share & Forecast
      • 8.3.2.2.1. By Disease Type
      • 8.3.2.2.2. By Speciality
      • 8.3.2.2.3. By Technology
      • 8.3.2.2.4. By End-Use Industry
  • 8.3.3. United Kingdom Rare Disease Genetic Testing Market Outlook
    • 8.3.3.1. Market Size & Forecast
      • 8.3.3.1.1. By Value & Volume
    • 8.3.3.2. Market Share & Forecast
      • 8.3.3.2.1. By Disease Type
      • 8.3.3.2.2. B Speciality
      • 8.3.3.2.3. By Technology
      • 8.3.3.2.4. By End-Use Industry
  • 8.3.4. Italy Rare Disease Genetic Testing Market Outlook
    • 8.3.4.1. Market Size & Forecast
      • 8.3.4.1.1. By Value & Volume
    • 8.3.4.2. Market Share & Forecast
      • 8.3.4.2.1. By Disease Type
      • 8.3.4.2.2. By Speciality
      • 8.3.4.2.3. By Technology
      • 8.3.4.2.4. By End-Use Industry
  • 8.3.5. Spain Rare Disease Genetic Testing Market Outlook
    • 8.3.5.1. Market Size & Forecast
      • 8.3.5.1.1. By Value & Volume
    • 8.3.5.2. Market Share & Forecast
      • 8.3.5.2.1. By Disease Type
      • 8.3.5.2.2. By Speciality
      • 8.3.5.2.3. By Technology
      • 8.3.5.2.4. By End-Use Industry

9. Asia-Pacific Rare Disease Genetic Testing Market Outlook

• 9.1. Market Size & Forecast
  • 9.1.1. By Value & Volume
• 9.2. Market Share & Forecast
  • 9.2.1. By Disease Type
  • 9.2.2. By Speciality
  • 9.2.3. By Technology
  • 9.2.4. By End-Use Industry
  • 9.2.5. By Country
• 9.3. Asia-Pacific: Country Analysis
  • 9.3.1. China Rare Disease Genetic Testing Market Outlook
    • 9.3.1.1. Market Size & Forecast
      • 9.3.1.1.1. By Value & Volume
    • 9.3.1.2. Market Share & Forecast
      • 9.3.1.2.1. By Disease Type
      • 9.3.1.2.2. By Speciality
      • 9.3.1.2.3. By Technology
      • 9.3.1.2.4. By End-Use Industry
  • 9.3.2. India Rare Disease Genetic Testing Market Outlook
    • 9.3.2.1. Market Size & Forecast
      • 9.3.2.1.1. By Value & Volume
    • 9.3.2.2. Market Share & Forecast
      • 9.3.2.2.1. By Disease Type
      • 9.3.2.2.2. By Speciality
      • 9.3.2.2.3. By Technology
      • 9.3.2.2.4. By End-Use Industry
  • 9.3.3. South Korea Rare Disease Genetic Testing Market Outlook
    • 9.3.3.1. Market Size & Forecast
      • 9.3.3.1.1. By Value & Volume
    • 9.3.3.2. Market Share & Forecast
      • 9.3.3.2.1. By Disease Type
      • 9.3.3.2.2. By Speciality
      • 9.3.3.2.3. By Technology
      • 9.3.3.2.4. By End-Use Industry
  • 9.3.4. Japan Rare Disease Genetic Testing Market Outlook
    • 9.3.4.1. Market Size & Forecast
      • 9.3.4.1.1. By Value & Volume
    • 9.3.4.2. Market Share & Forecast
      • 9.3.4.2.1. By Type
      • 9.3.4.2.2. By End-Use Industry
  • 9.3.5. Australia Rare Disease Genetic Testing Market Outlook
    • 9.3.5.1. Market Size & Forecast
      • 9.3.5.1.1. By Value & Volume
    • 9.3.5.2. Market Share & Forecast
      • 9.3.5.2.1. By Disease Type
      • 9.3.5.2.2. By Speciality
      • 9.3.5.2.3. By Technology
      • 9.3.5.2.4. By End-Use Industry

10. South America Rare Disease Genetic Testing Market Outlook

• 10.1. Market Size & Forecast
  • 10.1.1. By Value & Volume
• 10.2. Market Share & Forecast
  • 10.2.1. By Disease Type
  • 10.2.2. By Speciality
  • 10.2.3. By Technology
  • 10.2.4. By End-Use Industry
  • 10.2.5. By Country
• 10.3. South America: Country Analysis
  • 10.3.1. Brazil Rare Disease Genetic Testing Market Outlook
    • 10.3.1.1. Market Size & Forecast
      • 10.3.1.1.1. By Value & Volume
    • 10.3.1.2. Market Share & Forecast
      • 10.3.1.2.1. By Disease Type
      • 10.3.1.2.2. By Speciality
      • 10.3.1.2.3. By Technology
      • 10.3.1.2.4. By End-Use Industry
  • 10.3.2. Argentina Rare Disease Genetic Testing Market Outlook
    • 10.3.2.1. Market Size & Forecast
      • 10.3.2.1.1. By Value & Volume
    • 10.3.2.2. Market Share & Forecast
      • 10.3.2.2.1. By Disease Type
      • 10.3.2.2.2. By Speciality
      • 10.3.2.2.3. By Technology
      • 10.3.2.2.4. By End-Use Industry
  • 10.3.3. Colombia Rare Disease Genetic Testing Market Outlook
    • 10.3.3.1. Market Size & Forecast
      • 10.3.3.1.1. By Value & Volume
    • 10.3.3.2. Market Share & Forecast
      • 10.3.3.2.1. By Disease Type
      • 10.3.3.2.2. By Speciality
      • 10.3.3.2.3. By Technology
      • 10.3.3.2.4. By End-Use Industry

11. Middle East and Africa Rare Disease Genetic Testing Market Outlook

• 11.1. Market Size & Forecast
  • 11.1.1. By Value & Volume
• 11.2. Market Share & Forecast
  • 11.2.1. By Disease Type
  • 11.2.2. By Speciality
  • 11.2.3. By Technology
  • 11.2.4. By End-Use Industry
  • 11.2.5. By Country
• 11.3. MEA: Country Analysis
  • 11.3.1. South Africa Rare Disease Genetic Testing Market Outlook
    • 11.3.1.1. Market Size & Forecast
      • 11.3.1.1.1. By Value & Volume
    • 11.3.1.2. Market Share & Forecast
      • 11.3.1.2.1. By Disease Type
      • 11.3.1.2.2. By Speciality
      • 11.3.1.2.3. By Technology
      • 11.3.1.2.4. By End-Use Industry
  • 11.3.2. Saudi Arabia Rare Disease Genetic Testing Market Outlook
    • 11.3.2.1. Market Size & Forecast
      • 11.3.2.1.1. By Value & Volume
    • 11.3.2.2. Market Share & Forecast
      • 11.3.2.2.1. By Disease Type
      • 11.3.2.2.2. By Speciality
      • 11.3.2.2.3. By Technology
      • 11.3.2.2.4. By End-Use Industry
  • 11.3.3. UAE Rare Disease Genetic Testing Market Outlook
    • 11.3.3.1. Market Size & Forecast
      • 11.3.3.1.1. By Value & Volume
    • 11.3.3.2. Market Share & Forecast
      • 11.3.3.2.1. By Disease Type
      • 11.3.3.2.2. By Speciality
      • 11.3.3.2.3. By Technology
      • 11.3.3.2.4. By End-Use Industry

12. Market Dynamics

• 12.1. Drivers
• 12.2. Challenges

13. Market Trends & Developments

• 13.1. Recent Developments
• 13.2. Product Launches
• 13.3. Mergers & Acquisitions

14. PESTLE Analysis

15. Porter's Five Forces Analysis

• 15.1. Competition in the Industry
• 15.2. Potential of New Entrants
• 15.3. Power of Suppliers
• 15.4. Power of Customers
• 15.5. Threat of Substitute Product

16. Competitive Landscape

• 16.1. Business Overview
• 16.2. Company Snapshot
• 16.3. Products & Services
• 16.4. Financials (In case of listed companies)
• 16.5. Recent Developments
• 16.6. SWOT Analysis
  • 16.6.1. Centogene N.V.
  • 16.6.2. Invitae Corp.
  • 16.6.3. 3billion, Inc.
  • 16.6.4. Arup Laboratories
  • 16.6.5. Eurofins Scientific
  • 16.6.6. Strand Life Sciences
  • 16.6.7. Ambry Genetics
  • 16.6.8. Perkin Elmer, Inc.
  • 16.6.9. Realm IDX, Inc.
  • 16.6.10. Macrogen, Inc.

17. Strategic Recommendations