希少疾患遺伝子検査の市場規模、シェア、動向分析レポート：疾患別、技術別、専門別、最終用途別、地域別、セグメント予測、2025～2030年

希少疾患遺伝子検査市場の成長と動向：

Grand View Research, Inc.の最新レポートによると、世界の希少疾患遺伝子検査市場規模は、2025年から2030年にかけて15.3%のCAGRを記録し、2030年までに25億2,000万米ドルに達すると推定されます。

希少疾患と闘うための効果的な規制計画は、業界の主要な促進要因の一つです。さらに、関連疾患に関するデータや関連情報を提供するレジストリが数多く存在することも、過去数年間の収益拡大に寄与しています。希少疾患や超希少疾患に関する認識を高めるための継続的な会議が、診断キットやサービスの採用を後押しすると予想されます。例えば、英国、ドイツ、オランダ、ポーランドなどにオフィスを構えるErgomed社やPSR Orphan Experts社は、この分野の認知度向上を目的とした様々な活動に参加しています。

さらに、カナダ希少疾患機構（CORD）は、医療政策を合理化するための強力なプラットフォームと、疾患患者の管理に特化した医療システムを提供しています。同機関は、臨床医、研究者、政府、診断業界と協力し、国内のすべての希少疾患の研究開発、診断、治療、サービス提供を推進しています。米国国立衛生研究所（NIH）によると、約3,000万人のアメリカ人が、7,000以上の既知の希少疾患のいずれかに罹患していることが確認されています。認知度の高まりとともに、疾患検査を受ける患者数は今後数年で増加すると予想されます。米国では希少疾患の日を祝い、認知度を高めることでこの分野の開発を促進しています。

さらに、希少疾患臨床研究ネットワーク（RDCRN）はNIHが出資する研究ネットワークで、23の活発なコンソーシアムや研究グループから構成され、疾患の診断と治療に重点を置く患者、研究者、臨床医が参加しています。COVID-19が大流行する中、未診断の希少疾患の患者は健康上の大きな課題に直面しています。米国の研究グループが2021年1月に発表した研究によると、希少・未診断疾患（RUD）患者や家族に影響を及ぼす深刻な課題を軽減できるアプローチの開発が急務となっています。この課題には、診断や予後の不確実性と、医療の複雑さが相まって、健康状態の悪化につながることが含まれます。

パンデミックによって生じた課題に対して、患者支援団体や専門家集団は積極的に取り組んでいます。例えば、希少染色体サポートグループ（Unique）、英国ゲノム医学会、英国遺伝同盟（Genetic Alliance U.K.）などは、疾患を持つ患者の支援、擁護、情報提供に積極的に関与しています。いくつかの希少疾患は未分類のままです。慈善団体SWAN U.K.は、英国では毎年約6,000人の遺伝的疾患を持つ子供が生まれていると推定しています。そのため、エビデンスに基づいた治療のための適切な診断や予後予測ができないです。現在、英国では遺伝子検査を受けた子供の約50％が確定診断を受けていないです。

学習障害児の約50％、先天性疾患児の約60％が、障害の原因を特定する確定診断を受けていないです。さらに、診断や遺伝子検査に対する患者や家族の認識不足が、業界の成長をさらに妨げています。北米は、希少疾患の罹患率が高いこと、登録数が多いこと、この分野の研究開発施設が相当数存在すること、診断への投資が大規模であることから、2021年の業界を支配しました。アジア太平洋地域は、疾病管理に注力している組織が多数存在するため、予測期間中に最も速いCAGRを記録すると予想されます。

希少疾患遺伝子検査市場レポートハイライト

• 免疫疾患分野は2024年に12.56%の最大シェアを占め、予測期間中もこの傾向が続くと予測されます。
• 次世代シーケンスセグメントは2024年に35.50%の最大シェアを占めました。がん、神経疾患、心血管疾患、小児疾患、精神疾患、その他の希少疾患に対するNGSベースの遺伝子パネルの幅広い利用可能性と採用が、このセグメントを大きく牽引しています。
• 専門分野別では、分子遺伝学的検査分野が2024年に41.12％の最大収益シェアを占め、予測期間中も最速のCAGRで支配的地位を維持する見込みです。
• 最終用途別では、遺伝子検査企業との提携・協業が増加していることから、診断検査部門が調査期間中に17.36％のCAGRを記録する見込みです。

目次

第1章 調査手法と範囲

第2章 エグゼクティブサマリー

第3章 希少疾患遺伝子検査市場の変数、動向と範囲

• 市場系統の見通し
  • 親市場の見通し
  • 関連/付随市場の見通し
• 市場力学
  • 市場促進要因分析
  • 市場抑制要因分析
• 希少疾患遺伝子検査市場分析ツール
  • 業界分析- ポーターのファイブフォース分析
  • PESTEL分析
  • 価格分析

第4章 希少疾患遺伝子検査市場：疾患推定・動向分析

• 世界の希少疾患遺伝子検査市場：疾患ダッシュボード
• 世界の希少疾患遺伝子検査市場：疾患変動分析
• 世界の希少疾患遺伝子検査市場：疾患別収益
• 神経疾患
• 免疫疾患
• 血液疾患
• 内分泌・代謝疾患
• がん
• 筋骨格系障害
• 心血管疾患
• 皮膚科疾患
• その他の希少疾患

第5章 希少疾患遺伝子検査市場：技術別推定・動向分析

• 世界の希少疾患遺伝子検査市場：技術別ダッシュボード
• 世界の希少疾患遺伝子検査市場：技術別変動分析
• 世界の希少疾患遺伝子検査市場：技術別収益
• 次世代シーケンシング（NGS）
  • 全エクソームシーケンシング
  • 全ゲノム配列解析
• アレイテクノロジー
• 魚
• サンガーシーケンス
• 核型分析

第6章 希少疾患遺伝子検査市場：専門分野別推定・動向分析

• 世界の希少疾患遺伝子検査市場：専門別ダッシュボード
• 世界の希少疾患遺伝子検査市場：専門別変動分析
• 世界の希少疾患遺伝子検査市場：専門別収益
• 分子遺伝学的検査
• 染色体遺伝子検査
• 生化学的遺伝子検査

第7章 希少疾患遺伝子検査市場：疾患、技術、専門、最終用途および調査手法別の地域推定・動向分析

• 地域ダッシュボード
• 市場規模：予測動向分析：2018年から2030年
• 北米
  • 米国
  • カナダ
  • メキシコ
• 欧州
  • 英国
  • ドイツ
  • フランス
  • イタリア
  • スペイン
  • ノルウェー
  • スウェーデン
  • デンマーク
• アジア太平洋
  • 日本
  • 中国
  • インド
  • オーストラリア
  • 韓国
  • タイ
• ラテンアメリカ
  • ブラジル
  • アルゼンチン
• 中東・アフリカ
  • 南アフリカ
  • サウジアラビア
  • アラブ首長国連邦
  • クウェート

第8章 競合情勢

• 最近の動向と影響分析；主要市場参入企業別
• 企業/競合の分類
• ベンダー情勢
  • 主要販売代理店およびチャネルパートナーのリスト
  • 主要顧客
  • 主要企業の市場シェア分析（2024年）
  • Quest Diagnostics Inc.
  • Centogene NV
  • Invitae Corp.
  • F. Hoffmann-La Roche Ltd
  • Arup Laboratories
  • Eurofins Scientific
  • Strand Life Sciences
  • Ambry Genetics
  • Perkin Elmer;Inc.
  • Realm IDX;Inc.

List of Tables

• Table 1 List of abbreviations
• Table 2 North America Rare diseases genetic testing market; by region; 2018 - 2030 (USD Million)
• Table 3 North America Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
• Table 4 North America Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
• Table 5 North America Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
• Table 6 North America Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
• Table 7 U.S Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
• Table 8 U.S Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
• Table 9 U.S Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
• Table 10 U.S Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
• Table 11 Canada Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
• Table 12 Canada Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
• Table 13 Canada Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
• Table 14 Canada Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
• Table 15 Mexico Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
• Table 16 Mexico Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
• Table 17 Mexico Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
• Table 18 Mexico Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
• Table 19 Europe Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
• Table 20 Europe Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
• Table 21 Europe Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
• Table 22 Europe Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
• Table 23 UK Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
• Table 24 UK Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
• Table 25 UK Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
• Table 26 UK Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
• Table 27 Germany Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
• Table 28 Germany Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
• Table 29 Germany Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
• Table 30 Germany Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
• Table 31 France Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
• Table 32 France Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
• Table 33 France Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
• Table 34 France Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
• Table 35 Italy Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
• Table 36 Italy Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
• Table 37 Italy Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
• Table 38 Italy Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
• Table 39 Spain Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
• Table 40 Spain Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
• Table 41 Spain Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
• Table 42 Spain Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
• Table 43 Denmark Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
• Table 44 Denmark Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
• Table 45 Denmark Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
• Table 46 Denmark Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
• Table 47 Sweden Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
• Table 48 Sweden Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
• Table 49 Sweden Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
• Table 50 Sweden Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
• Table 51 Norway Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
• Table 52 Norway Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
• Table 53 Norway Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
• Table 54 Norway Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
• Table 55 Asia Pacific Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
• Table 56 Asia Pacific Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
• Table 57 Asia Pacific Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
• Table 58 Asia Pacific Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
• Table 59 Japan Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
• Table 60 Japan Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
• Table 61 Japan Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
• Table 62 Japan Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
• Table 63 China Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
• Table 64 China Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
• Table 65 China Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
• Table 66 China Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
• Table 67 India Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
• Table 68 India Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
• Table 69 India Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
• Table 70 India Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
• Table 71 Australia Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
• Table 72 Australia Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
• Table 73 Australia Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
• Table 74 Australia Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
• Table 75 South Korea Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
• Table 76 South Korea Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
• Table 77 South Korea Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
• Table 78 South Korea Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
• Table 79 Thailand Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
• Table 80 Thailand Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
• Table 81 Thailand Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
• Table 82 Thailand Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
• Table 83 Latin America Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
• Table 84 Latin America Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
• Table 85 Latin America Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
• Table 86 Latin America Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
• Table 87 Brazil Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
• Table 88 Brazil Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
• Table 89 Brazil Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
• Table 90 Brazil Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
• Table 91 Argentina Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
• Table 92 Argentina Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
• Table 93 Argentina Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
• Table 94 Argentina Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
• Table 95 MEA Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
• Table 96 MEA Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
• Table 97 MEA Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
• Table 98 MEA Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
• Table 99 South Africa Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
• Table 100 South Africa Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
• Table 101 South Africa Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
• Table 102 South Africa Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
• Table 103 Saudi Arabia Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
• Table 104 Saudi Arabia Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
• Table 105 Saudi Arabia Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
• Table 106 Saudi Arabia Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
• Table 107 UAE Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
• Table 108 UAE Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
• Table 109 UAE Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
• Table 110 UAE Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)
• Table 111 Kuwait Rare diseases genetic testing market; by disease; 2018 - 2030 (USD Million)
• Table 112 Kuwait Rare diseases genetic testing market; by technology; 2018 - 2030 (USD Million)
• Table 113 Kuwait Rare diseases genetic testing market; by specialty; 2018 - 2030 (USD Million)
• Table 114 Kuwait Rare diseases genetic testing market; by end use; 2018 - 2030 (USD Million)

List of Figures

• Fig. 1 Market research process
• Fig. 2 Data triangulation techniques
• Fig. 3 Primary research pattern
• Fig. 4 Primary interviews in North America
• Fig. 5 Primary interviews in Europe
• Fig. 6 Primary interviews in APAC
• Fig. 7 Primary interviews in Latin America
• Fig. 8 Primary interviews in MEA
• Fig. 9 Market research approaches
• Fig. 10 Value-chain-based sizing & forecasting
• Fig. 11 QFD modeling for market share assessment
• Fig. 12 Market formulation & validation
• Fig. 13 Rare Disease Genetic Testing market: market outlook
• Fig. 14 Rare Disease Genetic Testing competitive insights
• Fig. 15 Parent market outlook
• Fig. 16 Related/ancillary market outlook
• Fig. 17 Rare Disease Genetic Testing market driver impact
• Fig. 18 Rare Disease Genetic Testing market restraint impact
• Fig. 19 Rare Disease Genetic Testing market: Disease movement analysis
• Fig. 20 Rare Disease Genetic Testing market: Disease outlook and key takeaways
• Fig. 21 Neurological Disorders market estimates and forecast; 2018 - 2030 (USD Million)
• Fig. 22 Hematology Diseases market estimates and forecast; 2018 - 2030 (USD Million)
• Fig. 23 Endocrine & Metabolism Diseases market estimates and forecast; 2018 - 2030 (USD Million)
• Fig. 24 Cancer market estimates and forecast; 2018 - 2030 (USD Million)
• Fig. 25 Musculoskeletal Disorders market estimates and forecast; 2018 - 2030 (USD Million)
• Fig. 26 Cardiovascular Disorders market estimates and forecast; 2018 - 2030 (USD Million)
• Fig. 27 Dermatology Diseases market estimates and forecast; 2018 - 2030 (USD Million)
• Fig. 28 Other Rare Diseases market estimates and forecast; 2018 - 2030 (USD Million)
• Fig. 29 Rare Disease Genetic Testing market: Technology movement analysis
• Fig. 30 Rare Disease Genetic Testing market: Technology outlook and key takeaways
• Fig. 31 Next-Generation Sequencing (NGS) market estimates and forecast; 2018 - 2030 (USD Million)
• Fig. 32 Whole Exome Sequencing market estimates and forecast; 2018 - 2030 (USD Million)
• Fig. 33 Whole Genome Sequencing market estimates and forecast; 2018 - 2030 (USD Million)
• Fig. 34 Rare Disease Genetic Testing market: Specialty movement analysis
• Fig. 35 Rare Disease Genetic Testing market: Specialty outlook and key takeaways
• Fig. 36 Molecular Genetic Tests market estimates and forecast; 2018 - 2030 (USD Million)
• Fig. 37 Chromosomal Genetic Tests market estimates and forecast; 2018 - 2030 (USD Million)
• Fig. 38 Biochemical Genetic Tests market estimates and forecast; 2018 - 2030 (USD Million)
• Fig. 39 Global Rare Disease Genetic Testing market: Regional movement analysis
• Fig. 40 Global Rare Disease Genetic Testing market: Regional outlook and key takeaways
• Fig. 41 Global Rare Disease Genetic Testing market share and leading players
• Fig. 42 North America; by country
• Fig. 43 North America market estimates and forecasts; 2018 - 2030 (USD Million)
• Fig. 44 U.S. key country dynamics
• Fig. 45 U.S. market estimates and forecasts; 2018 - 2030 (USD Million)
• Fig. 46 Canada key country dynamics
• Fig. 47 Canada market estimates and forecasts; 2018 - 2030 (USD Million)
• Fig. 48 Mexico key country dynamics
• Fig. 49 Mexico market estimates and forecasts; 2018 - 2030 (USD Million)
• Fig. 50 Europe market estimates and forecasts; 2018 - 2030 (USD Million)
• Fig. 51 UK key country dynamics
• Fig. 52 UK market estimates and forecasts; 2018 - 2030 (USD Million)
• Fig. 53 Germany key country dynamics
• Fig. 54 Germany market estimates and forecasts; 2018 - 2030 (USD Million)
• Fig. 55 France key country dynamics
• Fig. 56 France market estimates and forecasts; 2018 - 2030 (USD Million)
• Fig. 57 Italy key country dynamics
• Fig. 58 Italy market estimates and forecasts; 2018 - 2030 (USD Million)
• Fig. 59 Spain key country dynamics
• Fig. 60 Spain market estimates and forecasts; 2018 - 2030 (USD Million)
• Fig. 61 Denmark key country dynamics
• Fig. 62 Denmark market estimates and forecasts; 2018 - 2030 (USD Million)
• Fig. 63 Sweden key country dynamics
• Fig. 64 Sweden market estimates and forecasts; 2018 - 2030 (USD Million)
• Fig. 65 Norway key country dynamics
• Fig. 66 Norway market estimates and forecasts; 2018 - 2030 (USD Million)
• Fig. 67 Asia Pacific market estimates and forecasts; 2018 - 2030 (USD Million)
• Fig. 68 China key country dynamics
• Fig. 69 China market estimates and forecasts; 2018 - 2030 (USD Million)
• Fig. 70 Japan key country dynamics
• Fig. 71 Japan market estimates and forecasts; 2018 - 2030 (USD Million)
• Fig. 72 India key country dynamics
• Fig. 73 India market estimates and forecasts; 2018 - 2030 (USD Million)
• Fig. 74 Thailand key country dynamics
• Fig. 75 Thailand market estimates and forecasts; 2018 - 2030 (USD Million)
• Fig. 76 South Korea key country dynamics
• Fig. 77 South Korea market estimates and forecasts; 2018 - 2030 (USD Million)
• Fig. 78 Australia key country dynamics
• Fig. 79 Australia market estimates and forecasts; 2018 - 2030 (USD Million)
• Fig. 80 Latin America market estimates and forecasts; 2018 - 2030 (USD Million)
• Fig. 81 Brazil key country dynamics
• Fig. 82 Brazil market estimates and forecasts; 2018 - 2030 (USD Million)
• Fig. 83 Argentina key country dynamics
• Fig. 84 Argentina market estimates and forecasts; 2018 - 2030 (USD Million)
• Fig. 85 Middle East and Africa market estimates and forecasts; 2018 - 2030 (USD Million)
• Fig. 86 South Africa key country dynamics
• Fig. 87 South Africa market estimates and forecasts; 2018 - 2030 (USD Million)
• Fig. 88 Saudi Arabia key country dynamics
• Fig. 89 Saudi Arabia market estimates and forecasts; 2018 - 2030 (USD Million)
• Fig. 90 UAE key country dynamics
• Fig. 91 UAE market estimates and forecasts; 2018 - 2030 (USD Million)
• Fig. 92 Kuwait key country dynamics
• Fig. 93 Kuwait market estimates and forecasts; 2018 - 2030 (USD Million)
• Fig. 94 Market share of key market players - Rare Disease Genetic Testing market

Rare Disease Genetic Testing Market Growth & Trends:

The global rare disease genetic testing market size is estimated to reach USD 2.52 billion by 2030, registering a CAGR of 15.3% from 2025 to 2030, according to a new report by Grand View Research, Inc. Effective regulatory plans to combat rare disease is one of the key drivers of the industry. Furthermore, the presence of a substantial number of registries that provide data and relevant information about related diseases has aided in revenue growth over the past years. Ongoing conferences to raise awareness about rare and ultra-rare conditions are anticipated to boost the adoption of diagnostic kits and services. For instance, Ergomed and PSR Orphan Experts, with their offices in the U.K., Germany, the Netherlands, Poland, and other countries, participate in various activities that are aimed at raising awareness in this area.

Moreover, the Canadian Organization for Rare Disorders (CORD) offers a strong platform to streamline health policy and a healthcare system that is dedicated to the management of patients with disorders. The agency works with clinicians, researchers, governments, and the diagnostic industry to advance R&D, diagnosis, treatment, and service availability for all rare conditions in the country. As per the National Institutes of Health (NIH), around 30 million Americans have been identified with one of 7,000+ known rare diseases. The number of patients undergoing disease testing is expected to increase in the coming years with growing awareness. The U.S. celebrates Rare Disease Day and promotes developments in this area by raising awareness.

In addition, the presence of the Rare Diseases Clinical Research Network (RDCRN), an NIH-funded research network of 23 active consortia or research groups that includes patients, researchers, and clinicians who are focused on the diagnosis & treatment of disorders is anticipated to positively impact the industry. Amidst the COVID-19 pandemic, patients with undiagnosed and rare diseases have been facing significant health challenges. According to a study published in January 2021 by a group of researchers from the U.S., there is an urgent need for the development of approaches that can reduce the serious challenges affecting Rare & Undiagnosed diseases (RUD) patients and families. The challenges include diagnostic and/or prognostic uncertainty coupled with medical complexity leading to poor health outcomes.

In response to the challenges created by the pandemic, patient support groups and professional societies are actively involved in addressing these challenges. For instance, the Rare Chromosome Support Group (Unique), the British Society for Genomic Medicine, and Genetic Alliance U.K. are actively involved in supporting, advocating, and providing information to patients with diseases. Several rare conditions remain unclassified. The charity SWAN U.K. estimated that around 6,000 children are born each year with genetic conditions in the U.K. As per the agency, the conditions are extremely rare and cannot be named. Thus, there is a lack of proper diagnosis and prognosis for evidence-based treatment. At present, around 50% of the children who undergo genetic testing in the U.K. would not receive a confirmed diagnosis.

Around 50% of the children with learning disabilities and approximately 60% of children with congenital conditions do not receive a definitive diagnosis to identify the cause of their disabilities. Furthermore, the lack of awareness among patients and families about diagnosis and genetic testing has further impeded the industry's growth. North America dominated the industry in 2021 due to the high incidence of rare diseases, a large number of registries, the presence of substantial numbers of R&D facilities in this area, and extensive investments in diagnosis. Asia Pacific is expected to register the fastest CAGR during the forecast years owing to the presence of a substantial number of organizations that are focusing on disease management.

Rare Disease Genetic Testing Market Report Highlights:

• The immunological disorders segment held the largest share of 12.56% in 2024 and is expected to continue the trend during the forecast period.
• The Next Generation Sequencing segment held the largest share of 35.50% in 2024. The wide availability and adoption of NGS-based gene panels for cancer, neurological diseases, cardiovascular diseases, pediatric conditions, psychiatric disorders, and other rare diseases have significantly driven the segment.
• Based on specialty, the molecular genetic tests segment accounted for the largest revenue share of 41.12% in 2024 and expected to maintain its dominant position with fastest CAGR during the forecast period.
• On the basis of end-use, the diagnostic laboratories segment is expected to register the fastest CAGR of 17.36% over the study period, driven by rising number of partnership and collaboration activities of diagnostic laboratories with genetic testing companies.

Table of Contents

Chapter 1. Methodology and Scope

• 1.1. Market Segmentation & Scope
• 1.2. Segment Definitions
  • 1.2.1. Disease
  • 1.2.2. Technology
  • 1.2.3. Specialty
  • 1.2.4. End use
  • 1.2.5. Regional scope
  • 1.2.6. Estimates and forecasts timeline
• 1.3. Research Methodology
• 1.4. Information Procurement
  • 1.4.1. Purchased database
  • 1.4.2. GVR's internal database
  • 1.4.3. Secondary sources
  • 1.4.4. Primary research
  • 1.4.5. Details of primary research
    • 1.4.5.1. Data for primary interviews in North America
    • 1.4.5.2. Data for primary interviews in Europe
    • 1.4.5.3. Data for primary interviews in Asia Pacific
    • 1.4.5.4. Data for primary interviews in Latin America
    • 1.4.5.5. Data for Primary interviews in MEA
• 1.5. Information or Data Analysis
  • 1.5.1. Data analysis models
• 1.6. Market Formulation & Validation
• 1.7. Model Details
  • 1.7.1. Commodity flow analysis (Model 1)
  • 1.7.2. Approach 1: Commodity flow approach
  • 1.7.3. Volume price analysis (Model 2)
  • 1.7.4. Approach 2: Volume price analysis
• 1.8. List of Secondary Sources
• 1.9. List of Primary Sources
• 1.10. Objectives

Chapter 2. Executive Summary

• 2.1. Market Outlook
• 2.2. Segment Outlook
  • 2.2.1. Disease
  • 2.2.2. Technology
  • 2.2.3. Specialty
  • 2.2.4. End use
  • 2.2.5. Regional outlook
• 2.3. Competitive Insights

Chapter 3. Rare Disease Genetic Testing Market Variables; Trends & Scope

• 3.1. Market Lineage Outlook
  • 3.1.1. Parent market outlook
  • 3.1.2. Related/ancillary market outlook
• 3.2. Market Dynamics
  • 3.2.1. Market driver analysis
    • 3.2.1.1. Expanding patient registry for rare disease
    • 3.2.1.2. Declining sequencing cost
    • 3.2.1.3. Technological advancements in disease diagnosis
    • 3.2.1.4. Launch of programs & new product development in rare disease diagnosis
  • 3.2.2. Market restraint analysis
    • 3.2.2.1. Absence of effective diagnosis framework
    • 3.2.2.2. Technical challenges associated with genetic tests & data management
• 3.3. Rare Disease Genetic Testing Market Analysis Tools
  • 3.3.1. Industry Analysis - Porter's
    • 3.3.1.1. Supplier power
    • 3.3.1.2. Buyer power
    • 3.3.1.3. Substitution threat
    • 3.3.1.4. Threat of new entrant
    • 3.3.1.5. Competitive rivalry
  • 3.3.2. PESTEL Analysis
    • 3.3.2.1. Political landscape
    • 3.3.2.2. Technological landscape
    • 3.3.2.3. Economic landscape
  • 3.3.3. Pricing Analysis

Chapter 4. Rare Disease Genetic Testing Market: Disease Estimates & Trend Analysis

• 4.1. Global Rare Disease Genetic Testing Market: Disease Dashboard
• 4.2. Global Rare Disease Genetic Testing Market: Disease Movement Analysis
• 4.3. Global Rare Disease Genetic Testing Market by Disease; Revenue
• 4.4. Neurological Disorders
  • 4.4.1. Neurological Disorders market estimates and forecasts 2018 to 2030 (USD Million)
• 4.5. Immunological Disorders
  • 4.5.1. Immunological Disorders market estimates and forecasts 2018 to 2030 (USD Million)
• 4.6. Hematology Diseases
  • 4.6.1. Hematology Diseases market estimates and forecasts 2018 to 2030 (USD Million)
• 4.7. Endocrine & Metabolism Diseases
  • 4.7.1. Endocrine & Metabolism Diseases market estimates and forecasts 2018 to 2030 (USD Million)
• 4.8. Cancer
  • 4.8.1. Cancer market estimates and forecasts 2018 to 2030 (USD Million)
• 4.9. Musculoskeletal Disorders
  • 4.9.1. Musculoskeletal Disorders market estimates and forecasts 2018 to 2030 (USD Million)
• 4.10. Cardiovascular Disorders
  • 4.10.1. Cardiovascular Disorders market estimates and forecasts 2018 to 2030 (USD Million)
• 4.11. Dermatology Diseases
  • 4.11.1. Dermatology Diseases market estimates and forecasts 2018 to 2030 (USD Million)
• 4.12. Other Rare Diseases
  • 4.12.1. Other Rare Diseases market estimates and forecasts 2018 to 2030 (USD Million)

Chapter 5. Rare Disease Genetic Testing Market: Technology Estimates & Trend Analysis

• 5.1. Global Rare Disease Genetic Testing Market: Technology Dashboard
• 5.2. Global Rare Disease Genetic Testing Market: Technology Movement Analysis
• 5.3. Global Rare Disease Genetic Testing Market by Technology; Revenue
• 5.4. Next-Generation Sequencing (NGS)
  • 5.4.1. Next-Generation Sequencing (NGS) market estimates and forecasts 2018 to 2030 (USD Million)
  • 5.4.2. Whole Exome Sequencing
    • 5.4.2.1. Whole Exome Sequencing market estimates and forecasts 2018 to 2030 (USD Million)
  • 5.4.3. Whole Genome Sequencing
    • 5.4.3.1. Whole Genome Sequencing market estimates and forecasts 2018 to 2030 (USD Million)
• 5.5. Array Technology
  • 5.5.1. Array Technology market estimates and forecasts 2018 to 2030 (USD Million)
• 5.6. FISH
  • 5.6.1. FISH market estimates and forecasts 2018 to 2030 (USD Million)
• 5.7. Sanger Sequencing
  • 5.7.1. Sanger Sequencing market estimates and forecasts 2018 to 2030 (USD Million)
• 5.8. Karyotyping
  • 5.8.1. Karyotyping market estimates and forecasts 2018 to 2030 (USD Million)

Chapter 6. Rare Disease Genetic Testing Market: Specialty Estimates & Trend Analysis

• 6.1. Global Rare Disease Genetic Testing Market: Specialty Dashboard
• 6.2. Global Rare Disease Genetic Testing Market: Specialty Movement Analysis
• 6.3. Global Rare Disease Genetic Testing Market by Specialty; Revenue
• 6.4. Molecular Genetic Tests
  • 6.4.1. Molecular Genetic Tests market estimates and forecasts 2018 to 2030 (USD Million)
• 6.5. Chromosomal Genetic Tests
  • 6.5.1. Chromosomal Genetic Tests market estimates and forecasts 2018 to 2030 (USD Million)
• 6.6. Biochemical Genetic Tests
  • 6.6.1. Biochemical Genetic Tests market estimates and forecasts 2018 to 2030 (USD Million)

Chapter 7. Rare Disease Genetic Testing Market: Regional Estimates & Trend Analysis by Disease; Technology; Specialty; End use and Methodology

• 7.1. Regional Dashboard
• 7.2. Market Size; & Forecasts Trend Analysis; 2018 to 2030:
• 7.3. North America
  • 7.3.1. U.S.
    • 7.3.1.1. Key country dynamics
    • 7.3.1.2. Regulatory framework/ reimbursement structure
    • 7.3.1.3. Competitive scenario
    • 7.3.1.4. U.S. market estimates and forecasts 2018 to 2030 (USD Million)
  • 7.3.2. Canada
    • 7.3.2.1. Key country dynamics
    • 7.3.2.2. Regulatory framework/ reimbursement structure
    • 7.3.2.3. Competitive scenario
    • 7.3.2.4. Canada market estimates and forecasts 2018 to 2030 (USD Million)
  • 7.3.3. Mexico
    • 7.3.3.1. Key country dynamics
    • 7.3.3.2. Regulatory framework/ reimbursement structure
    • 7.3.3.3. Competitive scenario
    • 7.3.3.4. Mexico market estimates and forecasts 2018 to 2030 (USD Million)
• 7.4. Europe
  • 7.4.1. UK
    • 7.4.1.1. Key country dynamics
    • 7.4.1.2. Regulatory framework/ reimbursement structure
    • 7.4.1.3. Competitive scenario
    • 7.4.1.4. UK market estimates and forecasts 2018 to 2030 (USD Million)
  • 7.4.2. Germany
    • 7.4.2.1. Key country dynamics
    • 7.4.2.2. Regulatory framework/ reimbursement structure
    • 7.4.2.3. Competitive scenario
    • 7.4.2.4. Germany market estimates and forecasts 2018 to 2030 (USD Million)
  • 7.4.3. France
    • 7.4.3.1. Key country dynamics
    • 7.4.3.2. Regulatory framework/ reimbursement structure
    • 7.4.3.3. Competitive scenario
    • 7.4.3.4. France market estimates and forecasts 2018 to 2030 (USD Million)
  • 7.4.4. Italy
    • 7.4.4.1. Key country dynamics
    • 7.4.4.2. Regulatory framework/ reimbursement structure
    • 7.4.4.3. Competitive scenario
    • 7.4.4.4. Italy market estimates and forecasts 2018 to 2030 (USD Million)
  • 7.4.5. Spain
    • 7.4.5.1. Key country dynamics
    • 7.4.5.2. Regulatory framework/ reimbursement structure
    • 7.4.5.3. Competitive scenario
    • 7.4.5.4. Spain market estimates and forecasts 2018 to 2030 (USD Million)
  • 7.4.6. Norway
    • 7.4.6.1. Key country dynamics
    • 7.4.6.2. Regulatory framework/ reimbursement structure
    • 7.4.6.3. Competitive scenario
    • 7.4.6.4. Norway market estimates and forecasts 2018 to 2030 (USD Million)
  • 7.4.7. Sweden
    • 7.4.7.1. Key country dynamics
    • 7.4.7.2. Regulatory framework/ reimbursement structure
    • 7.4.7.3. Competitive scenario
    • 7.4.7.4. Sweden market estimates and forecasts 2018 to 2030 (USD Million)
  • 7.4.8. Denmark
    • 7.4.8.1. Key country dynamics
    • 7.4.8.2. Regulatory framework/ reimbursement structure
    • 7.4.8.3. Competitive scenario
    • 7.4.8.4. Denmark market estimates and forecasts 2018 to 2030 (USD Million)
• 7.5. Asia Pacific
  • 7.5.1. Japan
    • 7.5.1.1. Key country dynamics
    • 7.5.1.2. Regulatory framework/ reimbursement structure
    • 7.5.1.3. Competitive scenario
    • 7.5.1.4. Japan market estimates and forecasts 2018 to 2030 (USD Million)
  • 7.5.2. China
    • 7.5.2.1. Key country dynamics
    • 7.5.2.2. Regulatory framework/ reimbursement structure
    • 7.5.2.3. Competitive scenario
    • 7.5.2.4. China market estimates and forecasts 2018 to 2030 (USD Million)
  • 7.5.3. India
    • 7.5.3.1. Key country dynamics
    • 7.5.3.2. Regulatory framework/ reimbursement structure
    • 7.5.3.3. Competitive scenario
    • 7.5.3.4. India market estimates and forecasts 2018 to 2030 (USD Million)
  • 7.5.4. Australia
    • 7.5.4.1. Key country dynamics
    • 7.5.4.2. Regulatory framework/ reimbursement structure
    • 7.5.4.3. Competitive scenario
    • 7.5.4.4. Australia market estimates and forecasts 2018 to 2030 (USD Million)
  • 7.5.5. South Korea
    • 7.5.5.1. Key country dynamics
    • 7.5.5.2. Regulatory framework/ reimbursement structure
    • 7.5.5.3. Competitive scenario
    • 7.5.5.4. South Korea market estimates and forecasts 2018 to 2030 (USD Million)
  • 7.5.6. Thailand
    • 7.5.6.1. Key country dynamics
    • 7.5.6.2. Regulatory framework/ reimbursement structure
    • 7.5.6.3. Competitive scenario
    • 7.5.6.4. Thailand market estimates and forecasts 2018 to 2030 (USD Million)
• 7.6. Latin America
  • 7.6.1. Brazil
    • 7.6.1.1. Key country dynamics
    • 7.6.1.2. Regulatory framework/ reimbursement structure
    • 7.6.1.3. Competitive scenario
    • 7.6.1.4. Brazil market estimates and forecasts 2018 to 2030 (USD Million)
  • 7.6.2. Argentina
    • 7.6.2.1. Key country dynamics
    • 7.6.2.2. Regulatory framework/ reimbursement structure
    • 7.6.2.3. Competitive scenario
    • 7.6.2.4. Argentina market estimates and forecasts 2018 to 2030 (USD Million)
• 7.7. MEA
  • 7.7.1. South Africa
    • 7.7.1.1. Key country dynamics
    • 7.7.1.2. Regulatory framework/ reimbursement structure
    • 7.7.1.3. Competitive scenario
    • 7.7.1.4. South Africa market estimates and forecasts 2018 to 2030 (USD Million)
  • 7.7.2. Saudi Arabia
    • 7.7.2.1. Key country dynamics
    • 7.7.2.2. Regulatory framework/ reimbursement structure
    • 7.7.2.3. Competitive scenario
    • 7.7.2.4. Saudi Arabia market estimates and forecasts 2018 to 2030 (USD Million)
  • 7.7.3. UAE
    • 7.7.3.1. Key country dynamics
    • 7.7.3.2. Regulatory framework/ reimbursement structure
    • 7.7.3.3. Competitive scenario
    • 7.7.3.4. UAE market estimates and forecasts 2018 to 2030 (USD Million)
  • 7.7.4. Kuwait
    • 7.7.4.1. Key country dynamics
    • 7.7.4.2. Regulatory framework/ reimbursement structure
    • 7.7.4.3. Competitive scenario
    • 7.7.4.4. Kuwait market estimates and forecasts 2018 to 2030 (USD Million)

Chapter 8. Competitive Landscape

• 8.1. Recent Developments & Impact Analysis; By Key Market Participants
• 8.2. Company/Competition Categorization
• 8.3. Vendor Landscape
  • 8.3.1. List of key distributors and channel partners
  • 8.3.2. Key customers
  • 8.3.3. Key company market share analysis; 2024
  • 8.3.4. Quest Diagnostics Inc.
    • 8.3.4.1. Company overview
    • 8.3.4.2. Financial performance
    • 8.3.4.3. Product benchmarking
    • 8.3.4.4. Strategic initiatives
  • 8.3.5. Centogene N.V.
    • 8.3.5.1. Company overview
    • 8.3.5.2. Financial performance
    • 8.3.5.3. Product benchmarking
    • 8.3.5.4. Strategic initiatives
  • 8.3.6. Invitae Corp.
    • 8.3.6.1. Company overview
    • 8.3.6.2. Financial performance
    • 8.3.6.3. Product benchmarking
    • 8.3.6.4. Strategic initiatives
  • 8.3.7. F. Hoffmann-La Roche Ltd
    • 8.3.7.1. Company overview
    • 8.3.7.2. Financial performance
    • 8.3.7.3. Product benchmarking
    • 8.3.7.4. Strategic initiatives
  • 8.3.8. Arup Laboratories
    • 8.3.8.1. Company overview
    • 8.3.8.2. Financial performance
    • 8.3.8.3. Product benchmarking
    • 8.3.8.4. Strategic initiatives
  • 8.3.9. Eurofins Scientific
    • 8.3.9.1. Company overview
    • 8.3.9.2. Financial performance
    • 8.3.9.3. Product benchmarking
    • 8.3.9.4. Strategic initiatives
  • 8.3.10. Strand Life Sciences
    • 8.3.10.1. Company overview
    • 8.3.10.2. Financial performance
    • 8.3.10.3. Product benchmarking
    • 8.3.10.4. Strategic initiatives
  • 8.3.11. Ambry Genetics
    • 8.3.11.1. Company overview
    • 8.3.11.2. Financial performance
    • 8.3.11.3. Product benchmarking
    • 8.3.11.4. Strategic initiatives
  • 8.3.12. Perkin Elmer; Inc.
    • 8.3.12.1. Company overview
    • 8.3.12.2. Financial performance
    • 8.3.12.3. Product benchmarking
    • 8.3.12.4. Strategic initiatives
  • 8.3.13. Realm IDX; Inc.
    • 8.3.13.1. Company overview
    • 8.3.13.2. Financial performance
    • 8.3.13.3. Product benchmarking
    • 8.3.13.4. Strategic initiatives