市場調査レポート

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希少疾患遺伝子検査の世界市場 (2023-2033年)：疾患タイプ・提供区分・専門タイプ・サンプルタイプ・形質タイプ・技術・年齢層・エンドユーザー・国別の分析・予測

Rare Disease Genetic Testing Market - A Global and Regional Analysis: Focus on Disease Type, Offering, Specialty Type, Sample Type, Trait Type, Technology, Age Group, End User, and Country Analysis - Analysis and Forecast, 2023-2033

出版日: 2023年08月09日 | 発行: BIS Research

| ページ情報: 英文 309 Pages | 納期: 1～5営業日

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概要
図表
目次

概要

サンプル依頼リストに入れる

世界の希少疾患遺伝子検査の市場規模は、2022年の41億1,000万米ドルから、予測期間中は13.69%のCAGRで推移し、2033年には166億9,000万米ドルの規模に成長すると予測されています。

世界の希少疾患遺伝子検査の市場は、希少疾患の早期発見に対する需要の高まりを背景に、著しい成長を遂げています。希少疾患の有病率の増加が市場成長に重要な役割を果たしています。小児集団における希少疾患の早期発見と予防に対する世界的な認識の高まりも、市場成長に影響を及ぼすと予想されています。

主要市場統計
予測期間	2023-2033年
2023年の評価	46億3,000万米ドル
2033年の予測	166億9,000万米ドル
CAGR	13.69%

疾患タイプ別に見ると、内分泌・代謝疾患の部門が市場をリードしており、2022年には21.88%のシェアを示しています。内分泌・代謝疾患は、一般人口で高い有病率を示すことが多く、診断と管理が特に困難です。診断にはNGSなどの遺伝子検査が用いられます。また、バイオマーカー分析、新生児スクリーニング、分子診断技術も含まれます。

専門分野別では、分子遺伝学的検査の部門が市場を牽引し、2022年には58.89%のシェアを示しています。分子遺伝学的検査の人気が高まっている主な理由は、希少疾患に罹患している個人や家族の遺伝カウンセリングや家族計画に重要な情報を提供するからです。特定の遺伝子変異を特定することで、家族は病気の遺伝の可能性について洞察を得ることができ、将来の世代に病気を引き継ぐリスクを評価することができます。

地域別で見ると、北米および欧州には技術的に進んだ産業があり、R&Dにかなりの予算が割り当てられています。希少疾患検査ももっとも多く行われており、これらの地域が世界の希少疾患遺伝子検査市場で最大のシェアを占めています。

主要企業プロファイル

23andMe Holding Co.
3billion, Inc.
Agilent Technologies, Inc.
Konica Minolta (Ambry Genetics, Inc.)
BGI Group
CENTOGENE N.V.
Eurofins Scientific SE
GeneDx, Holdings Corp.
Azenta U.S., Inc. (GENEWIZ, Inc.)
Illumina, Inc.
Invitae Corporation

Laboratory Corporation of America Holdings
Medgenome
Myriad Genetics, Inc.
OPKO Health, Inc.
PerkinElmer, Inc.
Exact Sciences Corporation (Prevention Genetics)
QIAGEN N.V.
Quest Diagnostics Incorporated
Strand Life Science Pvt Ltd.

当レポートでは、世界の希少疾患遺伝子検査の市場を調査し、市場概要、市場影響因子および市場機会の分析、法規制環境、市場規模の推移・予測、各種区分・地域別の詳細分析、特許動向、競合情勢、主要企業のプロファイルなどをまとめています。

List of Figures

Figure 1: Global Prevalence Rare Disease, 2022
Figure 2: Global Rare Disease Genetic Testing Market, $Billion, 2022-2033
Figure 3: Global Rare Disease Genetic Testing Market, Market Dynamics
Figure 4: Most Frequently Studied Rare Diseases, 2021
Figure 5: Global Rare Disease Genetic Testing Market Share (by Technology), 2022 and 2033
Figure 6: Global Rare Disease Genetic Testing Market Share (by Specialty Type), 2022 and 2033
Figure 7: Global Rare Disease Genetic Testing Market Share (by Offering), 2022 and 2033
Figure 8: Global Rare Disease Genetic Testing Market Share (by Disease Type), 2022 and 2033
Figure 9: Global Rare Disease Genetic Testing Market Share (by Sample Type), 2022 and 2033
Figure 10: Global Rare Disease Genetic Testing Market Share (by Trait Type), 2022 and 2033
Figure 11: Global Rare Disease Genetic Testing Market Share (by End User), 2022 and 2033
Figure 12: Global Rare Disease Genetic Testing Market (by Region), $Billion, 2022 and 2033
Figure 13: Share of Key Developments and Strategies, January 2019-June 2023
Figure 14: Global Rare Disease Genetic Testing Market Segmentation
Figure 15: Global Rare Disease Genetic Testing Market: Research Methodology
Figure 16: Primary Research Methodology
Figure 17: Bottom-Up Approach (Segment-Wise Analysis)
Figure 18: Top-Down Approach (Segment-Wise Analysis)
Figure 19: Global Rare Disease Genetic Testing Market Potential, $Billion, 2022-2033
Figure 20: Regulatory Scenario in Europe (by Country)
Figure 21: Global Rare Disease Genetic Testing Market, Patent Analysis (by Country), January 2018- June 2023
Figure 22: Global Rare Disease Genetic Testing Market, Patent Analysis (by Year), January 2018-June 2023
Figure 23: NIH Funding on Rare Diseases, $Million, 2013-2023
Figure 24: Global Rare Disease Genetic Testing Market Dynamics
Figure 25: Rare Disease Prevalence in India, 2022
Figure 26: Global Prevalence of Rare Diseases, 2022
Figure 27: Most Frequently Studied Rare Diseases, 2021
Figure 28: Publications Related to the Use of Artificial Intelligence for Rare Disease Diagnosis, 2015-2022
Figure 29: Global Rare Disease Genetic Testing Market, Number of Key Developments and Strategies, January 2019-June 2023
Figure 30: Global Rare Disease Genetic Testing Market, Number of Funding Activities, January 2019-June 2023
Figure 31: Global Rare Disease Genetic Testing Market, Number of New Offerings, Product Upgradation, and Approvals January 2019-June 2023
Figure 32: Global Rare Disease Genetic Testing Market, Number of Mergers and Acquisitions, January 2019-June 2023
Figure 33: Global Rare Disease Genetic Testing Market, Number of Partnerships, Collaborations, and Business Expansions, January 2019-June 2023
Figure 34: Global Rare Disease Genetic Testing Market, Company Revenue Share Analysis of Companies Offering Products, $Billion, 2022
Figure 35: Global Rare Disease Genetic Testing Market, Company Revenue Share Analysis of Companies Offering Services, $Billion, 2022
Figure 36: Global Rare Disease Genetic Testing Market, Growth-Share Matrix (by Disease Type), 2023-2033
Figure 37: Global Rare Disease Genetic Testing Market, Growth-Share Matrix (by Technology Type), 2023-2033
Figure 38: Global Rare Disease Genetic Testing Market (by Disease Type)
Figure 39: Global Rare Disease Genetic Testing Market (by Disease Type), $Billion, 2022-2032
Figure 40: Global Rare Disease Genetic Testing Market (Gastroenterology Disease), $Billion, 2022-2033
Figure 41: Global Rare Disease Genetic Testing Market (Endocrine and Metabolism Disease), $Billion, 2022-2033
Figure 42: Global Rare Disease Genetic Testing Market (Cardiovascular Disease), $Billion, 2022-2033
Figure 43: Global Rare Disease Genetic Testing Market (Neurology Disease), $Billion, 2022-2033
Figure 44: Global Rare Disease Genetic Testing Market (Hematology and Oncology Disease), $Billion, 2022-2033
Figure 45: Global Rare Disease Genetic Testing Market (Dermatology Disease), $Billion, 2022-2033
Figure 46: Global Rare Disease Genetic Testing Market (Other Diseases), $Billion, 2022-2033
Figure 47: Global Rare Disease Genetic Testing Market (by Offering)
Figure 48: Global Rare Disease Genetic Testing Market (by Offering), $Billion, 2022-2032
Figure 49: Global Rare Disease Genetic Testing Market (Products), $Billion, 2022-2033
Figure 50: Global Rare Disease Genetic Testing Market (Services), $Billion, 2022-2033
Figure 51: Global Rare Disease Genetic Testing Market (by Specialty Type)
Figure 52: Global Rare Disease Genetic Testing Market (by Specialty Type), $Billion, 2022-2032
Figure 53: Global Rare Disease Genetic Testing Market (Molecular Genetic Tests), $Billion, 2022-2033
Figure 54: Global Rare Disease Genetic Testing Market (Chromosomal Genetic Tests), $Billion, 2022-2033
Figure 55: Global Rare Disease Genetic Testing Market (Biochemical Genetic Tests), $Billion, 2022-2033
Figure 56: Global Rare Disease Genetic Testing Market (by Sample Type)
Figure 57: Global Rare Disease Genetic Testing Market (by Sample Type), $Billion, 2022-2032
Figure 58: Global Rare Disease Genetic Testing Market (DNA Sample), $Billion, 2022-2033
Figure 59: Global Rare Disease Genetic Testing Market (Buccal Swab Sample), $Billion, 2022-2033
Figure 60: Global Rare Disease Genetic Testing Market (Blood Sample), $Billion, 2022-2033
Figure 61: Global Rare Disease Genetic Testing Market (Saliva Sample), $Billion, 2022-2033
Figure 62: Global Rare Disease Genetic Testing Market (Others), $Billion, 2022-2033
Figure 63: Global Rare Disease Genetic Testing Market (by Trait Type)
Figure 64: Global Rare Disease Genetic Testing Market (by Trait Type), $Billion, 2022-2032
Figure 65: Global Rare Disease Genetic Testing Market (Inherited Trait), $Billion, 2022-2033
Figure 66: Global Rare Disease Genetic Testing Market (Acquired Trait), $Billion, 2022-2033
Figure 67: Global Rare Disease Genetic Testing Market (by Technology)
Figure 68: Global Rare Disease Genetic Testing Market (by Technology), $Billion, 2022-2032
Figure 69: Global Rare Disease Genetic Testing Market (Polymerase Chain Reaction (PCR)), $Billion, 2022-2033
Figure 70: Global Rare Disease Genetic Testing Market (by Next-Generation Sequencing (NGS)), $Billion, 2022-2033
Figure 71: Global Rare Disease Genetic Testing Market (Whole Genome Sequencing), $Billion, 2022-2033
Figure 72: Global Rare Disease Genetic Testing Market (Whole Exome Sequencing), $Billion, 2022-2033
Figure 73: Global Rare Disease Genetic Testing Market (Microarrays), $Billion, 2022-2033
Figure 74: Global Rare Disease Genetic Testing Market (Sanger Sequencing), $Billion, 2022-2033
Figure 75: Global Rare Disease Genetic Testing Market (Other Technologies), $Billion, 2022-2033
Figure 76: Global Rare Disease Genetic Testing Market (by Age Group)
Figure 77: Global Rare Disease Genetic Testing Market (by Age Group), $Billion, 2022-2032
Figure 78: Global Rare Disease Genetic Testing Market (Prenatal), $Billion, 2022-2033
Figure 79: Global Rare Disease Genetic Testing Market (Neonate and Infant), $Billion, 2022-2033
Figure 80: Global Rare Disease Genetic Testing Market (Children and Adolescent), $Billion, 2022-2033
Figure 81: Global Rare Disease Genetic Testing Market (Adult), $Billion, 2022-2033
Figure 82: Global Rare Disease Genetic Testing Market (by End User)
Figure 83: Global Rare Disease Genetic Testing Market (by End User), $Billion, 2022-2032
Figure 84: Global Rare Disease Genetic Testing Market (Hospitals), $Billion, 2022-2033
Figure 85: Global Rare Disease Genetic Testing Market (Diagnostic Laboratories), $Billion, 2022-2033
Figure 86: Global Rare Disease Genetic Testing Market (Other End User), $Billion, 2022-2033
Figure 87: Global Rare Disease Genetic Testing Market Share (by Region), 2022-2033
Figure 88: North America Rare Disease Genetic Testing Market, $Billion, 2022-2033
Figure 89: North America Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 90: North America Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 91: North America Rare Disease Genetic Testing Market (by Country), % Share, 2022 and 2033
Figure 92: U.S. Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 93: U.S. Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 94: U.S. Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 95: Canada Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 96: Canada Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 97: Canada Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 98: Europe Rare Disease Genetic Testing Market, $Billion, 2022-2033
Figure 99: Europe Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 100: Europe Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 101: Europe Rare Disease Genetic Testing Market (by Country), % Share, 2022 and 2033
Figure 102: Germany Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 103: Germany Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 104: Germany Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 105: U.K. Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 106: U.K. Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 107: U.K. Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 108: France Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 109: France Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 110: France Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 111: Italy Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 112: Italy Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 113: Italy Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 114: Spain Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 115: Spain Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 116: Spain Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 117: Russia Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 118: Russia Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 119: Russia Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 120: Rest-of-Europe Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 121: Rest-of-Europe Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 122: Rest-of-Europe Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 123: Asia-Pacific Rare Disease Genetic Testing Market, $Billion, 2022-2033
Figure 124: Asia-Pacific Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 125: Asia-Pacific Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 126: Asia-Pacific Rare Disease Genetic Testing Market (by Country), % Share, 2022 and 2033
Figure 127: Japan Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 128: Japan Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 129: Japan Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 130: China Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 131: China Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 132: China Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 133: Australia Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 134: Australia Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 135: Australia Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 136: South Korea Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 137: South Korea Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 138: South Korea Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 139: India Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 140: India Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 141: India Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 142: Singapore Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 143: Singapore Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 144: Singapore Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 145: Rest-of-Asia-Pacific Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 146: Rest-of-Asia-Pacific Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 147: Rest-of-Asia-Pacific Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 148: Latin America Rare Disease Genetic Testing Market, $Billion, 2022-2033
Figure 149: Latin America Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 150: Latin America Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 151: Latin America Rare Disease Genetic Testing Market (by Country), % Share, 2022 and 2033
Figure 152: Brazil Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 153: Brazil Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 154: Brazil Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 155: Mexico Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 156: Mexico Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 157: Mexico Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 158: Rest-of-Latin America Rare Disease Genetic Testing Market, $Million, 2022-2033
Figure 159: Rest-of-Latin America Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 160: Rest-of-Latin America Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 161: Rest-of-the-World Rare Disease Genetic Testing Market, $Billion, 2022-2033
Figure 162: Rest-of-the-World Rare Disease Genetic Testing Market (by Disease Type), $Million, 2022-2033
Figure 163: Rest-of-the-World Rare Disease Genetic Testing Market (by Technology), $Million, 2022-2033
Figure 164: Global Rare Disease Genetic Testing Market, Total Number of Key Companies Profiled
Figure 165: 23andMe, Inc: Product Portfolio
Figure 166: 23andMe Holding Co.: Overall Financials, $Million, 2020-2022
Figure 167: 23andMe Holding Co.: Net Revenue (by Segment), $Million, 2020-2022
Figure 168: 23andMe Holding Co.: Net Revenue (by Region), $Million, 2020-2022
Figure 169: 23andMe Holding Co.: R&D Expenditure, $Million, 2020-2022
Figure 170: 3billion, Inc: Product Portfolio
Figure 171: Agilent Technologies, Inc: Product Portfolio
Figure 172: Agilent Technologies, Inc.: Overall Financials, $Million, 2020-2022
Figure 173: Agilent Technologies, Inc.: Net Revenue (by Segment), $Million, 2020-2022
Figure 174: Agilent Technologies, Inc.: Net Revenue (by Region), $Million, 2020-2022
Figure 175: Agilent Technologies, Inc.: R&D Expenditure, $Million, 2020-2022
Figure 176: Konica Minolta (Ambry Genetics, Inc.): Product Portfolio
Figure 177: Konica Minolta (Ambry Genetics, Inc.).: Overall Financials, $Million, 2020-2022
Figure 178: Konica Minolta (Ambry Genetics, Inc.): Net Revenue (by Segment), $Million, 2020-2022
Figure 179: Konica Minolta (Ambry Genetics, Inc.): Net Revenue (by Region), $Million, 2020-2022
Figure 180: Konica Minolta (Ambry Genetics, Inc.): R&D Expenditure, $Million, 2020-2022
Figure 181: BGI Genomics: Product Portfolio
Figure 182: BGI Genomics.: Overall Financials, $Million, 2020-2022
Figure 183: CENTOGENE N.V.: Product Portfolio
Figure 184: CENTOGENE N.V.: Overall Financials, $Million, 2020-2022
Figure 185: CENTOGENE N.V.: Net Revenue (by Segment), $Million, 2020-2022
Figure 186: CENTOGENE N.V.: Net Revenue (by Region), $Million, 2020-2022
Figure 187: CENTOGENE N.V.: R&D Expenditure, $Million, 2020-202
Figure 188: Eurofins Scientific SE: Product Portfolio
Figure 189: Eurofins Scientific SE: Overall Financials, $Million, 2020-2022
Figure 190: Eurofins Scientific SE: Net Revenue (by Segment), $Million, 2020-2022
Figure 191: Eurofins Scientific SE: Net Revenue (by Region), $Million, 2020-2022
Figure 192: GeneDx, Holdings Corp.: Product Portfolio
Figure 193: GeneDx, Holdings Corp.: Overall Financials, $Million, 2020-2022
Figure 194: GeneDx, Holdings Corp.: Net Revenue (by Segment), $Million, 2020-2022
Figure 195: GeneDx, Holdings Corp.: R&D Expenditure, $Million, 2020-2022
Figure 196: Azenta U.S., Inc. (GENEWIZ, Inc.): Product Portfolio
Figure 197: Azenta U.S., Inc. (GENEWIZ, Inc.): Overall Financials, $Million, 2020-2022
Figure 198: Azenta U.S., Inc. (GENEWIZ, Inc.): Net Revenue (by Segment), $Million, 2020-2022
Figure 199: Azenta U.S., Inc. (GENEWIZ, Inc.): Net Revenue (by Region), $Million, 2020-2022
Figure 200: Illumina, Inc.: Product Portfolio
Figure 201: Illumina, Inc.: Overall Financials, $Million, 2020-2022
Figure 202: Illumina, Inc.: Revenue (by Segment), $Million, 2020-2022
Figure 203: Illumina, Inc.: Revenue (by Region), $Million, 2020-2022
Figure 204: Illumina, Inc.: R&D Expenditure, $Million, 2020-2022
Figure 205: Invitae Corporation: Product Portfolio
Figure 206: Invitae Corporation: Overall Financials, $Million, 2020-2022
Figure 207: Invitae Corporation: Net Revenue (by Segment), $Million, 2020-2022
Figure 208: Invitae Corporation: Net Revenue (by Region), $Million, 2020-2022
Figure 209: Laboratory Corporation of America Holdings: Product Portfolio
Figure 210: Laboratory Corporation of America Holdings: Overall Financials, $Million, 2020-2022
Figure 211: Laboratory Corporation of America Holdings: Revenue (by Segment), $Million, 2020-2022
Figure 212: Laboratory Corporation of America Holdings: Revenue (by Region), $Million, 2020-2022
Figure 213: Medgenome: Product Portfolio
Figure 214: Myriad Genetics, Inc.: Product Portfolio
Figure 215: Myriad Genetics, Inc.: Overall Financials, $Million, 2020-2022
Figure 216: Myriad Genetics, Inc.: Net Revenue (by Segment), $Million, 2020-2022
Figure 217: Myriad Genetics, Inc.: R&D Expenditure, $Million, 2020-2022
Figure 218: OPKO Health, Inc.: Product Portfolio
Figure 219: OPKO Health, Inc.: Overall Financials, $Million, 2020-2022
Figure 220: OPKO Health, Inc.: Revenue (by Segment), $Million, 2020-2022
Figure 221: PerkinElmer, Inc.: Product Portfolio
Figure 222: PerkinElmer, Inc.: Overall Financials, $Million, 2020-2022
Figure 223: PerkinElmer, Inc.: Revenue (by Segment), $Million, 2020-2022
Figure 224: PerkinElmer, Inc.: Revenue (by Region), $Million, 2020-2022
Figure 225: PerkinElmer, Inc.: R&D Expenditure, $Million, 2020-2022
Figure 226: Exact Sciences Corporation (Prevention Genetics): Product Portfolio
Figure 227: Exact Sciences Corporation: Overall Financials, $Million, 2020-2022
Figure 228: Exact Sciences Corporation: Revenue (by Segment), $Million, 2020-2022
Figure 229: Exact Sciences Corporation: Revenue (by Region), $Million, 2020-2022
Figure 230: Exact Sciences Corporation: R&D Expenditure, $Million, 2020-2022
Figure 231: QIAGEN N.V.: Product Portfolio
Figure 232: QIAGEN N.V.: Overall Financials, $Million, 2020-2022
Figure 233: QIAGEN N.V.: Revenue (by Segment), $Million, 2020-2022
Figure 234: QIAGEN N.V.: Revenue (by Region), $Million, 2020-2022
Figure 235: QIAGEN N.V.: R&D Expenditure, $Million, 2020-2022
Figure 236: Quest Diagnostics Incorporated.: Product Portfolio
Figure 237: Quest Diagnostics Incorporated: Overall Financials, $Million, 2020-2022
Figure 238: Quest Diagnostics Incorporated: Revenue (by Segment), $Million, 2020-2022
Figure 239: Strand Life Science Pvt Ltd.: Product Portfolio

List of Tables

Table 1: Key Questions Answered in the Report
Table 2: Funding for Rare Disease Research
Table 3: Technological Advancements in the Rare Disease Genetic Testing Ecosystem
Table 4: Expansion of Medicare Coverage for Rare Disease Genetic Testing Tests (by Companies)
Table 5: North America Rare Disease Genetic Testing Market, Impact Analysis
Table 6: Europe Rare Disease Genetic Testing Market, Impact Analysis
Table 7: Asia-Pacific Rare Disease Genetic Testing Market, Impact Analysis
Table 8: Latin America Rare Disease Genetic Testing Market, Impact Analysis
Table 9: Rest-of-the-World Rare Disease Genetic Testing Market, Impact Analysis

Product Code: BHP0644SC

“Global Rare Disease Genetic Testing Market to Reach $16.69 Billion by 2033.”

Introduction of Rare Disease Genetic Testing

The global rare disease genetic testing market was valued at $4.11 billion in 2022 and is anticipated to reach $16.69 billion by 2033, witnessing a CAGR of 13.69% during the forecast period 2023-2033. Cutting-edge technologies, such as whole-genome sequencing (WGS) and whole-exome sequencing (WES), involve the analysis of an individual's complete genetic code (genome) or specific protein-coding regions (exome), respectively. These methods help identify genetic variations, mutations, or abnormalities responsible for rare diseases.

KEY MARKET STATISTICS
Forecast Period	2023 - 2033
2023 Evaluation	$4.63 Billion
2033 Forecast	$16.69 Billion
CAGR	13.69%

Market Introduction

Before the advent of NGS (which includes WGS and WES), physicians relied on the Sanger sequencing-based tests, which could detect rare diseases but were extremely time-consuming. Additionally, till all the tests were completed, physicians had to rely on a general diagnostic odyssey or general diagnosis until definitive results were available. This delayed the treatment process. As per BIS Research, the global rare disease genetic testing market includes panels and tests that can be used for more rare disease genetic testing. These are predominantly polymerase chain reaction (PCR) and next-generation sequencing (NGS) based tests, panels, and assays. The most common rare disease genetic testing panels include gastroenterology, endocrine and metabolism, and neurology disease, among others.

Industrial Impact

The global rare disease genetic testing market has witnessed significant growth, attributed to the increasing demand for early detection of rare diseases. The increasing prevalence of rare diseases has played a critical role in market growth. Furthermore, growing recognition and emphasis on early detection and prevention of rare diseases in pediatric populations around the world are also expected to influence market growth.

Rare disease genetic testing has immense potential to deliver next-level healthcare solutions. For instance, in January 2023, BGI Genomics, in collaboration with the National Centre for Cardiovascular Diseases, Fuwai Hospital, and the State Key Laboratory of Cardiovascular Diseases, developed the "CardioGen automated interpretation system," which serves as the genotype and phenotype database of monogenic cardiovascular disease. Other factors also impact the market growth, including increased patient demand and low turnaround time of these tests.

Market Segmentation:

Segmentation 1: by Disease Type

Gastroenterology Disease
Endocrine and Metabolism Disease
Cardiovascular Disease
Neurology Disease
Hematology and Oncology Disease
Dermatology Disease
Other Diseases

Endocrine and Metabolism Disease Segment to Dominate the Global Rare Disease Genetic Testing Market (by Disease Type)

Based on disease type, the rare disease genetic testing market is led by endocrine and metabolism, which held a 21.88% share in 2022. The burden of endocrine and metabolism diseases often has a high prevalence in the general population, making their diagnosis and management particularly challenging. Their diagnosis addresses genetic testing such as NGS. Further, it also includes biomarker analysis, newborn screening, and molecular diagnostic techniques.

Segmentation 2: Offering

Products
Services

Services Segment to Dominate the Global Rare Disease Genetic Testing Market (by Offering)

Based on offerings, the rare disease genetic testing market is led by services, which held an 81.58% share in 2022. Services are specifically tailored to meet the distinct requirements of individuals affected by rare diseases, healthcare professionals, and researchers engaged in this field. The availability of these services complements the use of diagnostic products and facilitates comprehensive and personalized rare disease genetic testing.

Segmentation 3: by Specialty Type

Molecular Genetic Tests
Chromosomal Genetic Tests
Biochemical Genetic Tests

Molecular Genetic Tests Occupying the Largest Share in the Market (by Specialty Type)

Based on specialty type, the rare disease genetic testing market is led by molecular genetic tests, which held a 58.89% share in 2022. The key reason for the increasing popularity of molecular genetic testing is that it provides crucial information for genetic counseling and family planning for individuals and families affected by rare diseases. By identifying specific genetic mutations, families can gain insights into the likelihood of disease inheritance and assess the risk of passing on the condition to future generations. This type of testing is utilized to identify genetic disorders in newborns, allowing for prompt intervention and treatment initiation.

Segmentation 4: by Sample Type

DNA Sample
Buccal Swab Sample
Blood Sample
Saliva Sample
Others

Blood Sample to Witness the Highest Growth Between 2023 and 2033

Based on sample type, the rare disease genetic testing market is led by blood samples, and it held a 33.99% share in 2022. Blood samples undergo processing to isolate different components, including white blood cells, serum, or plasma. These isolated components are then subjected to further analysis to detect genetic abnormalities, identify biochemical markers, or explore other diagnostic indicators. Genetic testing methods such as PCR, DNA sequencing, and microarrays can be employed on blood samples to identify specific genetic mutations that are associated with rare diseases.

Segmentation 5: by Trait Type

Inherited Trait
Acquired Trait

Inherited Trait to Witness the Highest Growth between 2023 and 2033

Based on trait type, the rare disease genetic testing market is led by inherited traits, which held an 82.59% share in 2022. Inherited traits are characteristics or conditions that are passed down from parents to their offspring through genetic material, i.e., DNA. These traits result from variations or mutations in the genes and can increase the risk of developing certain rare diseases.

Segmentation 6: by Technology

Sanger Sequencing
PCR
NGS
Microarrays
Others (Targeted Cytogenetics, Karyotyping, and FISH)

NGS to Dominate the Global Rare Disease Genetic Testing Market (by Technology)

Based on technology, the rare disease genetic testing market is led by next-generation sequencing (NGS), and it held a 43.80% share in 2022. NGS technology provides higher sensitivity and specificity in detecting genetic variants, including single-nucleotide variants (SNVs), insertions, deletions, and structural rearrangements. This technology also extends its applications to non-invasive prenatal testing, including the detection of fetal chromosomal abnormalities associated with certain rare genetic conditions.

Segmentation 7: by Age Group

Prenatal
Neonate and Infant
Children and Adolescent
Adult

Prenatal to Witness the Highest Growth between 2023 and 2033

Based on age group, the rare disease genetic testing market is led by the prenatal age group, which held a 39.68% share in 2022. Prenatal testing and diagnostics play a crucial role in identifying potential rare diseases and congenital abnormalities in the fetus. Prenatal testing methods such as chorionic villus sampling (CVS) and amniocentesis are employed to detect genetic disorders or developmental issues.

Segmentation 8: by End User

Hospital
Diagnostics Laboratories
Other End Users

Hospitals to Dominate the Global Rare Disease Genetic Testing Market (by End User)

Based on end users, the rare disease genetic testing market is led by hospitals, which recorded a 53.12% share in 2022. Hospitals are at the forefront of adopting syndromic testing panels into routine healthcare procedures. Hospitals, particularly in leading regions such as North America and Europe, and also to a certain extent in Asia-Pacific, have incorporated syndromic testing panels and assays to provide superior care to patients.

Segmentation 9: by Region

North America - U.S., Canada

Europe - Germany, U.K., France, Italy, Russia, Spain, and Rest-of-Europe

Asia-Pacific - Japan, India, China, South Korea, Australia, Singapore, and Rest-of-Asia-Pacific

Latin America - Brazil, Mexico, and Rest-of-Latin America

Rest-of-the-World

Regions such as North America and Europe have technologically advanced industries and allocate considerable budgets to research and development (R&D) activities. Moreover, a maximum number of rare disease testing is done there, due to which these regions hold the maximum share in the global rare disease genetic testing market.

Recent Developments in the Rare Disease Genetic Testing Market

In April 2023, Agilent Technologies, Inc. and Theragen Bio collaborated in South Korea to advance bioinformatic solutions for cancer genomic profiling.

In April 2023, 3 billion receives accreditation from the California Department of Public Health (CDPH) as a clinical laboratory. With the CDPH accreditation, hospitals throughout California will now be able to utilize 3 billion's genetic tests for diagnostic purposes and can claim insurance for the tests.

In February 2023, Akili Labs and BGI Genomics established the first commercial clinical sequencing facility in Africa.

In January 2023, Premier Research and CENTOGENE formed a strategic partnership to hasten and reduce the risk of clinical development for rare diseases.

In February 2023, Illumina delivers the first NovaSeq X Plus sequencer and workflow insights on Illumina Complete Long Reads unveiled at Advances in Genome Biology and Technology (AGBT).

In March 2023, Invitae Announces Partnership with Epic to Streamline Genetic Testing. Through Aura, Epic's specialty diagnostics suite, Invitae will streamline interactions with provider organizations in the Epic community, making test result information available in providers' usual workflows so that it's easier to use genetic insights to inform treatment decisions.

Demand - Drivers, Challenges, and Opportunities

Market Demand Drivers:

Rapid Technological Advancements in Rare Disease Diagnosis: Technological advancements, such as next-generation sequencing (NGS), targeted gene panels, and artificial intelligence (AI)-based algorithms, have significantly improved diagnostic accuracy for rare diseases. NGS enables comprehensive genomic analysis, allowing for the identification of disease-causing genetic mutations with higher precision. By identifying the underlying genetic mechanisms and individualizing treatment plans, technological advancements are improving patient outcomes, patient satisfaction, and overall market growth. These advancements have also led to the emergence of new areas of rare disease genetic testing, which have opened up new avenues for research and drug discovery.

Rising Prevalence of Genetic Disorders and Congenital Disorders: The rising prevalence of genetic disorders and congenital disorders has a significant impact on the growth of the global rare disease genetic testing market. Increased demand for diagnostic services, expansion of screening programs, focus on personalized medicine, research and development initiatives, supportive regulatory environment, and patient advocacy all contribute to the expanding market. Furthermore, the rising prevalence led to an expansion of screening programs. Governments and healthcare organizations are implementing newborn screening programs and prenatal genetic testing initiatives to identify these disorders early.

Growing Recognition and Emphasis on Early Detection and Prevention of Rare Diseases in Paediatric Populations: Increased consumer demand for early detection and prevention, coupled with a focus on personalized medicine and precision healthcare, is expected to fuel the growth of the global rare disease market. Awareness and education, patient empowerment, expanded screening programs, preventive healthcare strategies, supportive policies, and insurance coverage are all contributing to the expansion of diagnostic services and driving market demand for rare disease genetic testing.

Market Challenges:

Lack of Consolidation of Information Leading to Difficulty in Diagnosis: The lack of consolidation of information and the resulting difficulty in diagnosis poses significant challenges for the global rare disease genetic testing market. Rare diseases often have limited available information, fragmented research findings, and scattered expertise. The vast number of rare diseases, each with its unique set of symptoms and genetic variations, makes it challenging to consolidate comprehensive knowledge and expertise in a centralized manner.

Significant Capital Requirement for Research and Development Hindering Global Expansion Efforts: The significant capital requirement for research and development (R&D) poses a notable challenge for the global rare disease genetic testing market. Research and development in the field of rare diseases often involve extensive genetic studies, clinical trials, and the development of innovative diagnostic tools and therapies. These activities require substantial financial investment, as they involve specialized expertise, laboratory infrastructure, regulatory compliance, and patient recruitment. The high costs associated with R&D act as a barrier, particularly for smaller companies and research institutions with limited resources, hindering their ability to undertake comprehensive research and development efforts. Rare diseases, by definition, affect a small patient population. Hence, the limited commercial market potential for treatments and diagnostics creates challenges in attracting sufficient private investment.

Market Opportunities:

Whole-Genome Sequencing Putting an End to the Rare Disease Diagnostic Odysseys: Whole-genome sequencing (WGS) has the potential to put an end to rare disease genetic testing odysseys and presents significant opportunities for the global rare disease genetic testing market. This technology enables a comprehensive analysis of an individual's entire genome, providing a comprehensive view of the genetic variations and mutations. This approach allows for the detection of both common and rare genetic variants, including those associated with rare diseases.

AI-Based Diagnostic Tools Diagnosing Rare Diseases by Identifying Potential Diagnoses: AI-based diagnostic tools that utilize machine learning and artificial intelligence algorithms present significant opportunities for the global rare disease market by improving the diagnosis of rare diseases. Artificial intelligence (AI) and machine learning algorithms are revolutionizing rare disease genetic testing by analyzing large datasets, identifying patterns, and making accurate predictions. For instance, in July 2021, Sema4, the parent organization of GeneDx, successfully concluded a transaction with CM Life Sciences, marking its debut as a publicly traded company. The company now operates as an AI-driven genomics and clinical data platform company.

Transitioning toward Increased Genetics Coverage in Reimbursement Policies: Transitioning toward increased genetics coverage in reimbursement policies presents a valuable opportunity for the global rare disease genetic testing market. It improves access to genetic testing, encourages early diagnosis and intervention, supports research and development efforts, stimulates innovation, reduces financial burdens for patients, and aligns with the principles of personalized medicine. These factors collectively contribute to improved diagnostic rates and advancements in rare disease management.

How Can This Report Add Value to an Organization?

Product/Innovation Strategy: The global rare disease genetic testing market has been extensively segmented on the basis of various categories, such as disease type, specialty type, sample type, end-user, and region. This can help readers understand which segments account for the largest share and which are well-positioned to grow in the coming years.

Growth/Marketing Strategy: Partnerships, collaborations, product launches, and upgrades accounted for the maximum number of key developments, i.e., nearly 86.2% of the total developments in the global rare disease genetic testing market were between January 2021 and June 2023.

Competitive Strategy: The global rare disease genetic testing market has numerous established players paving their way into providing tests, panels, and assays in the market. Key players in the global rare disease genetic testing market analyzed and profiled in the study involve established players offering various disease-specific panels and multiplex instruments.

Key Market Players and Competition Synopsis

The companies that are profiled have been selected based on inputs gathered from primary experts and analyzing company coverage, product portfolio, and market penetration.

Key Companies Profiled:

23andMe Holding Co.
3billion, Inc.
Agilent Technologies, Inc.
Konica Minolta (Ambry Genetics, Inc.)
BGI Group
CENTOGENE N.V.
Eurofins Scientific SE
GeneDx, Holdings Corp.
Azenta U.S., Inc. (GENEWIZ, Inc.)
Illumina, Inc.
Invitae Corporation

Laboratory Corporation of America Holdings
Medgenome
Myriad Genetics, Inc.
OPKO Health, Inc.
PerkinElmer, Inc.
Exact Sciences Corporation (Prevention Genetics)
QIAGEN N.V.
Quest Diagnostics Incorporated
Strand Life Science Pvt Ltd.

1 Market

1.1 Global Market Outlook
- 1.1.1 Product Definition
- 1.1.2 Inclusion and Exclusion Criteria
  - 1.1.2.1 Inclusion Criteria
  - 1.1.2.2 Exclusion Criteria
- 1.1.3 Market Overview
  - 1.1.3.1 Market Footprint
  - 1.1.3.2 Market Size and Future Growth Potential
- 1.1.4 COVID-19 Impact on the Market
  - 1.1.4.1 Impact on Research and Clinical Operations
  - 1.1.4.2 COVID-19 Impact: Current Scenario of the Market
1.2 Industry Analysis
- 1.2.1 Regulatory Framework
  - 1.2.1.1 Legal Requirements and Framework in the U.S.
  - 1.2.1.2 Legal Requirements and Framework in Europe
    - 1.2.1.2.1 U.K.
    - 1.2.1.2.2 Spain
  - 1.2.1.3 Legal Requirements and Framework in Asia-Pacific
    - 1.2.1.3.1 Japan
    - 1.2.1.3.2 China
    - 1.2.1.3.3 India
    - 1.2.1.3.4 Taiwan
- 1.2.2 Patent Analysis
  - 1.2.2.1 Patent Filing Trend (by Country)
  - 1.2.2.2 Patent Filing Trend (by Year)
- 1.2.3 Funding Scenario
1.3 Market Dynamics
- 1.3.1 Overview
- 1.3.2 Market Drivers
  - 1.3.2.1 Rapid Technological Advancements in Rare Disease Diagnosis
  - 1.3.2.2 Rising Prevalence of Genetic Disorders and Congenital Disorders
  - 1.3.2.3 Growing Recognition and Emphasis on Early Detection and Prevention of Rare Diseases in Pediatric Populations
- 1.3.3 Market Challenges
  - 1.3.3.1 Lack of Consolidation of Information Leading to Difficulty in Diagnosis
  - 1.3.3.2 Significant Capital Requirement for Research and Development Hindering Global Expansion Efforts
- 1.3.4 Market Opportunities
  - 1.3.4.1 Whole Genome Sequencing Putting an End to the Rare Disease Genetic Testing Odysseys
  - 1.3.4.2 AI-Based Diagnostic Tools Diagnosing Rare Diseases by Identifying Potential Diagnoses
  - 1.3.4.3 Transitioning toward Increased Genetics Coverage in Reimbursement Policies

2 Competitive Insights

2.1 Competitive Benchmarking
- 2.1.1 Key Strategies and Developments
  - 2.1.1.1 Funding Activities
  - 2.1.1.2 New Offerings, Product Upgradation, and Approvals
  - 2.1.1.3 Mergers and Acquisitions
  - 2.1.1.4 Partnerships, Collaborations, And Business Expansion
- 2.1.2 Market Share Analysis
  - 2.1.2.1 Rare Disease Genetic Testing Market, Market Share Analysis of Companies Offering Products
  - 2.1.2.2 Rare Disease Genetic Testing Market, Market Share Analysis of Companies Offering Services.
- 2.1.3 Growth-Share Analysis
  - 2.1.3.1 By Disease Type
  - 2.1.3.2 By Technology Type

3 Global Rare Disease Genetic Testing Market (by disease type), 2022-2033

3.1 Overview
3.2 Gastroenterology Disease
3.3 Endocrine and Metabolism Disease
3.4 Cardiovascular Disease
3.5 Neurology Disease
3.6 Hematology and Oncology Disease
3.7 Dermatology Disease
3.8 Other Diseases

4 Global Rare Disease Genetic Testing Market (by Offering), 2022-2033

4.1 Overview
4.2 Products
4.3 Services

5 Global Rare Disease Genetic Testing Market (by Specialty Type), 2022-2033

5.1 Overview
5.2 Molecular Genetic Tests
5.3 Chromosomal Genetic Tests
5.4 Biochemical Genetic Tests

6 Global Rare Disease Genetic Testing Market (by Sample Type), 2022-2033

6.1 Overview
6.2 DNA Sample
6.3 Buccal Swab Sample
6.4 Blood Sample
6.5 Saliva Sample
6.6 Others

7 Global Rare Disease Genetic Testing Market (by Trait Type), 2022-2033

7.1 Overview
7.2 Inherited Trait
7.3 Acquired Trait

8 Global Rare Disease Genetic Testing Market (by Technology), 2022-2033

8.1 Overview
8.2 Polymerase Chain Reaction (PCR)
8.3 Next-Generation Sequencing (NGS)
- 8.3.1 Whole Genome Sequencing
- 8.3.2 Whole Exome Sequencing
8.4 Microarrays
8.5 Sanger Sequencing
8.6 Other Technologies

9 Global Rare Disease Genetic Testing Market (by Age Group), 2022-2033

9.1 Overview
9.2 Prenatal
9.3 Neonate and Infant
9.4 Children and Adolescent
9.5 Adult

10 Global Rare Disease Genetic Testing Market (by End User), 2022-2033

10.1 Overview
10.2 Hospitals
10.3 Diagnostic Laboratories
10.4 Other End User

11 Global Rare Disease Genetic Testing Market (by Region)

11.1 North America Rare Disease Genetic Testing Market
- 11.1.1 Market Dynamics
  - 11.1.1.1 Impact Analysis
- 11.1.2 Market Sizing and Forecast
  - 11.1.2.1 North America Rare Disease Genetic Testing Market (by Disease Type)
  - 11.1.2.2 North America Rare Disease Genetic Testing Market (by Technology)
  - 11.1.2.3 North America Rare Disease Genetic Testing Market (by Country)
    - 11.1.2.3.1 U.S.
      - 11.1.2.3.1.1 Market Dynamics
      - 11.1.2.3.1.2 Market Size and Forecast
      - 11.1.2.3.1.2.1 U.S. Rare Disease Genetic Testing Market (by Disease Type)
      - 11.1.2.3.1.2.2 U.S. Rare Disease Genetic Testing Market (by Technology)
    - 11.1.2.3.2 Canada
      - 11.1.2.3.2.1 Market Dynamics
      - 11.1.2.3.2.2 Market Size and Forecast
      - 11.1.2.3.2.2.1 Canada Rare Disease Genetic Testing Market (by Disease Type)
      - 11.1.2.3.2.2.2 Canada Rare Disease Genetic Testing Market (by Technology)
11.2 Europe Rare Disease Genetic Testing Market
- 11.2.1 Market Dynamics
  - 11.2.1.1 Impact Analysis
- 11.2.2 Market Sizing and Forecast
  - 11.2.2.1 Europe Rare Disease Genetic Testing Market (by Disease Type)
  - 11.2.2.2 Europe Rare Disease Genetic Testing Market (by Technology)
  - 11.2.2.3 Europe Rare Disease Genetic Testing Market (by Country)
    - 11.2.2.3.1 Germany
      - 11.2.2.3.1.1 Market Dynamics
      - 11.2.2.3.1.2 Market Size and Forecast
      - 11.2.2.3.1.2.1 Germany Rare Disease Genetic Testing Market (by Disease Type)
      - 11.2.2.3.1.2.2 Germany Rare Disease Genetic Testing Market (by Technology)
    - 11.2.2.3.2 U.K.
      - 11.2.2.3.2.1 Market Dynamics
      - 11.2.2.3.2.2 Market Size and Forecast
      - 11.2.2.3.2.2.1 U.K Rare Disease Genetic Testing Market (by Disease Type)
      - 11.2.2.3.2.2.2 U.K. Rare Disease Genetic Testing Market (by Technology)
    - 11.2.2.3.3 France
      - 11.2.2.3.3.1 Market Dynamics
      - 11.2.2.3.3.2 Market Size and Forecast
      - 11.2.2.3.3.2.1 France Rare Disease Genetic Testing Market (by Disease Type)
      - 11.2.2.3.3.2.2 France Rare Disease Genetic Testing Market (by Technology)
    - 11.2.2.3.4 Italy
      - 11.2.2.3.4.1 Market Dynamics
      - 11.2.2.3.4.2 Market Size and Forecast
      - 11.2.2.3.4.2.1 Italy Rare Disease Genetic Testing Market (by Disease Type)
      - 11.2.2.3.4.2.2 Italy Rare Disease Genetic Testing Market (by Technology)
    - 11.2.2.3.5 Spain
      - 11.2.2.3.5.1 Market Dynamics
      - 11.2.2.3.5.2 Market Size and Forecast
      - 11.2.2.3.5.2.1 Spain Rare Disease Genetic Testing Market (by Disease Type)
      - 11.2.2.3.5.2.2 Spain Rare Disease Genetic Testing Market (by Technology)
    - 11.2.2.3.6 Russia
      - 11.2.2.3.6.1 Market Dynamics
      - 11.2.2.3.6.2 Market Size and Forecast
      - 11.2.2.3.6.2.1 Russia Rare Disease Genetic Testing Market (by Disease Type)
      - 11.2.2.3.6.2.2 Russia Rare Disease Genetic Testing Market (by Technology)
    - 11.2.2.3.7 Rest-of-Europe
      - 11.2.2.3.7.1 Market Dynamics
      - 11.2.2.3.7.2 Market Size and Forecast
      - 11.2.2.3.7.2.1 Rest-of-Europe Rare Disease Genetic Testing Market (by Disease Type)
      - 11.2.2.3.7.2.2 Rest-of-Europe Rare Disease Genetic Testing Market (by Technology)
11.3 Asia-Pacific Rare Disease Genetic Testing Market
- 11.3.1 Market Dynamics
  - 11.3.1.1 Impact Analysis
- 11.3.2 Market Size and Forecast
  - 11.3.2.1 Asia-Pacific Rare Disease Genetic Testing Market (by Disease Type)
  - 11.3.2.2 Asia-Pacific Rare Disease Genetic Testing Market (by Technology)
  - 11.3.2.3 Asia-Pacific Rare Disease Genetic Testing Market (by Country)
    - 11.3.2.3.1 Japan
      - 11.3.2.3.1.1 Market Dynamics
      - 11.3.2.3.1.2 Market Size and Forecast
      - 11.3.2.3.1.2.1 Japan Rare Disease Genetic Testing Market (by Disease Type)
      - 11.3.2.3.1.2.2 Japan Rare Disease Genetic Testing Market (by Technology)
    - 11.3.2.3.2 China
      - 11.3.2.3.2.1 Market Dynamics
      - 11.3.2.3.2.2 Market Size and Forecast
      - 11.3.2.3.2.2.1 China Rare Disease Genetic Testing Market (by Disease Type)
      - 11.3.2.3.2.2.2 China Rare Disease Genetic Testing Market (by Technology)
    - 11.3.2.3.3 Australia
      - 11.3.2.3.3.1 Market Dynamics
      - 11.3.2.3.3.2 Market Size and Forecast
      - 11.3.2.3.3.2.1 Australia Rare Disease Genetic Testing Market (by Disease Type)
      - 11.3.2.3.3.2.2 Australia Rare Disease Genetic Testing Market (by Technology)
    - 11.3.2.3.4 South Korea
      - 11.3.2.3.4.1 Market Dynamics
      - 11.3.2.3.4.2 Market Size and Forecast
      - 11.3.2.3.4.2.1 South Korea Rare Disease Genetic Testing Market (by Disease Type)
      - 11.3.2.3.4.2.2 South Korea Rare Disease Genetic Testing Market (by Technology)
    - 11.3.2.3.5 India
      - 11.3.2.3.5.1 Market Dynamics
      - 11.3.2.3.5.2 Market Size and Forecast
      - 11.3.2.3.5.2.1 India Rare Disease Genetic Testing Market (by Disease Type)
      - 11.3.2.3.5.2.2 India Rare Disease Genetic Testing Market (by Technology)
    - 11.3.2.3.6 Singapore
      - 11.3.2.3.6.1 Market Dynamics
      - 11.3.2.3.6.2 Market Size and Forecast
      - 11.3.2.3.6.2.1 Singapore Rare Disease Genetic Testing Market (by Disease Type)
      - 11.3.2.3.6.2.2 Singapore Rare Disease Genetic Testing Market (by Technology)
    - 11.3.2.3.7 Rest-of-Asia-Pacific
      - 11.3.2.3.7.1 Market Dynamics
      - 11.3.2.3.7.2 Market Size and Forecast
      - 11.3.2.3.7.2.1 Rest-of-Asia-Pacific Rare Disease Genetic Testing Market (by Disease Type)
      - 11.3.2.3.7.2.2 Rest-of-Asia-Pacific Rare Disease Genetic Testing Market (by Technology)
11.4 Latin America Rare Disease Genetic Testing Market
- 11.4.1 Market Dynamics
  - 11.4.1.1 Impact Analysis
- 11.4.2 Market Size and Forecast
  - 11.4.2.1 Latin America Rare Disease Genetic Testing Market (by Disease Type)
  - 11.4.2.2 Latin America Rare Disease Genetic Testing Market (by Technology)
  - 11.4.2.3 Latin America Rare Disease Genetic Testing Market (by Country)
    - 11.4.2.3.1 Brazil
      - 11.4.2.3.1.1 Market Dynamics
      - 11.4.2.3.1.2 Market Size and Forecast
      - 11.4.2.3.1.2.1 Brazil Rare Disease Genetic Testing Market (by Disease Type)
      - 11.4.2.3.1.2.2 Brazil Rare Disease Genetic Testing Market (by Technology)
    - 11.4.2.3.2 Mexico
      - 11.4.2.3.2.1 Market Dynamics
      - 11.4.2.3.2.2 Market Size and Forecast
      - 11.4.2.3.2.2.1 Mexico Rare Disease Genetic Testing Market (by Disease Type)
      - 11.4.2.3.2.2.2 Mexico Rare Disease Genetic Testing Market (by Technology)
    - 11.4.2.3.3 Rest-of-Latin America
      - 11.4.2.3.3.1 Market Dynamics
      - 11.4.2.3.3.2 Market Size and Forecast
      - 11.4.2.3.3.2.1 Rest-of-Latin America Rare Disease Genetic Testing Market (by Disease Type)
      - 11.4.2.3.3.2.2 Rest-of-Latin America Rare Disease Genetic Testing Market (by Technology)
11.5 Rest-of-the-World Rare Disease Genetic Testing Market
- 11.5.1 Market Dynamics
  - 11.5.1.1 Impact Analysis
- 11.5.2 Market Size and Forecast
  - 11.5.2.1 Rest-of-the-World Rare Disease Genetic Testing Market (by Disease Type)
  - 11.5.2.2 Rest-of-the-World Rare Disease Genetic Testing Market (by Technology)

12 Company Profiles

12.1 Overview
- 12.1.1 23andMe Holding Co.
  - 12.1.1.1 Company Overview
  - 12.1.1.2 Role of 23andMe Holding Co. in the Global Rare Disease Genetic Testing Market
  - 12.1.1.3 Financials
  - 12.1.1.4 Recent Developments
  - 12.1.1.5 Analyst Perspective
- 12.1.2 3billion, Inc.
  - 12.1.2.1 Company Overview
  - 12.1.2.2 Role of 3billion, Inc. in the Global Rare Disease Genetic Testing Market
  - 12.1.2.3 Recent Developments
  - 12.1.2.4 Analyst Perspective
- 12.1.3 Agilent Technologies, Inc.
  - 12.1.3.1 Company Overview
  - 12.1.3.2 Role of Agilent Technologies, Inc. in the Global Rare Disease Genetic Testing Market
  - 12.1.3.3 Financials
  - 12.1.3.4 Recent Developments
  - 12.1.3.5 Analyst Perspective
- 12.1.4 Konica Minolta (Ambry Genetics, Inc.)
  - 12.1.4.1 Company Overview
  - 12.1.4.2 Role of Konica Minolta (Ambry Genetics, Inc.) in the Global Rare Disease Genetic Testing Market
  - 12.1.4.3 Financials
  - 12.1.4.4 Recent Developments
  - 12.1.4.5 Analyst Perspective
- 12.1.5 BGI Group
  - 12.1.5.1 Company Overview
  - 12.1.5.2 Role of BGI Group in the Global Rare Disease Genetic Testing Market
  - 12.1.5.3 Financials
  - 12.1.5.4 Recent Developments
  - 12.1.5.5 Analyst Perspective
- 12.1.6 CENTOGENE N.V.
  - 12.1.6.1 Company Overview
  - 12.1.6.2 Role of CENTOGENE N.V. in the Global Rare Disease Genetic Testing Market
  - 12.1.6.3 Financials
  - 12.1.6.4 Recent Developments
  - 12.1.6.5 Analyst Perspective
- 12.1.7 Eurofins Scientific SE
  - 12.1.7.1 Company Overview
  - 12.1.7.2 Role of Eurofins Scientific SE in the Global Rare Disease Genetic Testing Market
  - 12.1.7.3 Financials
  - 12.1.7.4 Recent Developments
  - 12.1.7.5 Analyst Perspective
- 12.1.8 GeneDx, Holdings Corp.
  - 12.1.8.1 Company Overview
  - 12.1.8.2 Role of GeneDx, Holdings Corp. in the Global Rare Disease Genetic Testing Market
  - 12.1.8.3 Financials
  - 12.1.8.4 Recent Developments
  - 12.1.8.5 Analyst Perspective
- 12.1.9 Azenta U.S., Inc. (GENEWIZ, Inc.)
  - 12.1.9.1 Company Overview
  - 12.1.9.2 Role of Azenta U.S., Inc. (GENEWIZ, Inc.) in the Global Rare Disease Genetic Testing Market
  - 12.1.9.3 Financials
  - 12.1.9.4 Recent Developments
  - 12.1.9.5 Analyst Perspective
- 12.1.10 Illumina, Inc.
  - 12.1.10.1 Company Overview
  - 12.1.10.2 Role of Illumina, Inc. in the Global Rare Disease Genetic Testing Market
  - 12.1.10.3 Financials
  - 12.1.10.4 Recent Developments
  - 12.1.10.5 Analyst Perspective
- 12.1.11 Invitae Corporation
  - 12.1.11.1 Company Overview
  - 12.1.11.2 Role of Invitae Corporation in the Global Rare Disease Genetic Testing Market
  - 12.1.11.3 Financials
  - 12.1.11.4 Recent Developments
  - 12.1.11.5 Analyst Perspective
- 12.1.12 Laboratory Corporation of America Holdings
  - 12.1.12.1 Company Overview
  - 12.1.12.2 Role of Laboratory Corporation of America Holdings in the Global Rare Disease Genetic Testing Market
  - 12.1.12.3 Financials
  - 12.1.12.4 Recent Developments
  - 12.1.12.5 Analyst Perspective
- 12.1.13 Medgenome
  - 12.1.13.1 Company Overview
  - 12.1.13.2 Role of Medgenome in the Global Rare Disease Genetic Testing Market
  - 12.1.13.3 Recent Developments
  - 12.1.13.4 Analyst Perspective
- 12.1.14 Myriad Genetics, Inc.
  - 12.1.14.1 Company Overview
  - 12.1.14.2 Role of Myriad Genetics, Inc. in the Global Rare Disease Genetic Testing Market
  - 12.1.14.3 Financials
  - 12.1.14.4 Recent Developments
  - 12.1.14.5 Analyst Perspective
- 12.1.15 OPKO Health, Inc.
  - 12.1.15.1 Company Overview
  - 12.1.15.2 Role of OPKO Health, Inc. in the Global Rare Disease Genetic Testing Market
  - 12.1.15.3 Financials
  - 12.1.15.4 Recent Developments
  - 12.1.15.5 Analyst Perspective
- 12.1.16 PerkinElmer, Inc.
  - 12.1.16.1 Company Overview
  - 12.1.16.2 Role of PerkinElmer, Inc. in the Global Rare Disease Genetic Testing Market
  - 12.1.16.3 Financials
  - 12.1.16.4 Key Insights about the Financial Health of the Company
  - 12.1.16.5 Recent Developments
  - 12.1.16.6 Analyst Perspective
- 12.1.17 Exact Sciences Corporation (Prevention Genetics)
  - 12.1.17.1 Company Overview
  - 12.1.17.2 Role of Exact Sciences Corporation (Prevention Genetics) in the Global Rare Disease Genetic Testing Market
  - 12.1.17.3 Financials
  - 12.1.17.4 Recent Developments
  - 12.1.17.5 Analyst Perspective
- 12.1.18 QIAGEN N.V.
  - 12.1.18.1 Company Overview
  - 12.1.18.2 Role of QIAGEN N.V. in the Global Rare Disease Genetic Testing Market
  - 12.1.18.3 Financials
  - 12.1.18.4 Recent Developments
  - 12.1.18.5 Analyst Perspective
- 12.1.19 Quest Diagnostics Incorporated
  - 12.1.19.1 Company Overview
  - 12.1.19.2 Role of Quest Diagnostics Incorporated in the Global Rare Disease Genetic Testing Market
  - 12.1.19.3 Financials
  - 12.1.19.4 Analyst Perspective
- 12.1.20 Strand Life Science Pvt Ltd.
  - 12.1.20.1 Company Overview
  - 12.1.20.2 Role of Strand Life Science Pvt Ltd. in the Global Rare Disease Genetic Testing Market
  - 12.1.20.3 Recent Developments
  - 12.1.20.4 Analyst Perspective

希少疾患遺伝子検査の世界市場 (2023-2033年)：疾患タイプ・提供区分・専門タイプ・サンプルタイプ・形質タイプ・技術・年齢層・エンドユーザー・国別の分析・予測

Rare Disease Genetic Testing Market - A Global and Regional Analysis: Focus on Disease Type, Offering, Specialty Type, Sample Type, Trait Type, Technology, Age Group, End User, and Country Analysis - Analysis and Forecast, 2023-2033

主要企業プロファイル

目次

第1章 市場

第2章 競合考察

第3章 世界の希少疾患遺伝子検査市場：疾患タイプ別

第4章 世界の希少疾患遺伝子検査市場：提供別

第5章 世界の希少疾患遺伝子検査市場：専門分野別

第6章 世界の希少疾患遺伝子検査市場：サンプルタイプ別

第7章 世界の希少疾患遺伝子検査市場：形質タイプ別

第8章 世界の希少疾患遺伝子検査市場：技術別

第9章 世界の希少疾患遺伝子検査市場：年齢層別

第10章 世界の希少疾患遺伝子検査市場：エンドユーザー別

第11章 世界の希少疾患遺伝子検査市場：地域別

第12章 企業プロファイル