United States Rare Disease Genetic Testing Market Growth Opportunities & Industry Analysis | Major Players 2025 - Quest Diagnostics Inc, Arup Laboratories, Strand Life Sciences

"The Global Rare Disease Genetic Testing Market reached USD 0.8 billion in 2022 and is projected to witness lucrative growth by reaching up to USD 2.2 billion by 2030. The global rare disease genetic testing market is expected to exhibit a CAGR of 13.7% during the forecast period (2023-2030)" As per DataM intelligence research report

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United States: Recent Industry Developments

✅ In August 2025, Invitae launched an expanded rare disease genetic testing panel covering over 500 conditions. The offering enables early diagnosis, personalized treatment planning, and improved patient outcomes.

✅ In July 2025, Fulgent Genetics introduced a high-throughput sequencing platform for rare disease diagnostics, providing faster turnaround times and enhanced variant detection for clinical laboratories.

✅ In June 2025, Blueprint Genetics released a next-generation rare disease testing service with AI-driven variant interpretation. The platform supports clinicians in making accurate diagnoses and informed treatment decisions.

Japan: Recent Industry Developments

✅ In August 2025, Takara Bio launched a comprehensive rare disease genetic testing service targeting inherited disorders. The initiative focuses on early detection, precision medicine, and improved clinical decision-making.

✅ In July 2025, SRL, Inc. introduced an expanded genetic panel for rare diseases, providing advanced sequencing and analysis capabilities for hospitals and diagnostic centers. The service enhances diagnostic accuracy and patient care.

✅ In June 2025, LSI Medience Corporation developed a next-generation rare disease testing solution integrating bioinformatics tools for variant analysis. The platform supports early diagnosis and personalized treatment strategies in Japan.

Rare Disease Genetic Testing Market: Drivers

The rare disease genetic testing market is experiencing significant growth as awareness of genetic disorders and the importance of early diagnosis increases globally. Rising adoption is driven by the need for precise identification of rare inherited conditions, enabling timely intervention, personalized treatment, and improved patient outcomes. Advances in next-generation sequencing (NGS), whole-exome, and whole-genome sequencing technologies are facilitating faster, more accurate, and comprehensive testing. Additionally, increasing investments by healthcare providers, research institutions, and diagnostic laboratories are expanding testing capabilities and accessibility. Growing patient advocacy, awareness campaigns, and government initiatives supporting rare disease diagnosis are further fueling market expansion.

Technological advancements are significantly enhancing rare disease genetic testing. Innovations in high-throughput sequencing, bioinformatics, and data analytics are enabling efficient analysis of complex genomic data. Development of multi-gene panels, non-invasive prenatal testing, and liquid biopsy techniques is improving diagnostic accuracy and patient comfort. Integration with AI and machine learning allows predictive modeling, variant interpretation, and personalized insights for clinicians. Improvements in laboratory automation, sample processing, and reporting systems are increasing throughput, reliability, and turnaround times. With ongoing innovation and expanding healthcare infrastructure, the rare disease genetic testing market is poised for substantial growth.

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Rare Disease Genetic Testing Market: Major Players

Quest Diagnostics Inc, Arup Laboratories, Strand Life Sciences, Ambry Genetics, 3billion, Inc., Macrogen Inc, Color Genomics Inc, Centogene NV, Invitae Corporation and Myriad Genetics Inc.

Segment Covered in the Rare Disease Genetic Testing Market:

➥ By Type: Neurological Disorders, Endocrine & Metabolism Diseases, Hematology Diseases, Immunological Disorders, Musculoskeletal, Others

➥ By Technology: Next-Generation Sequencing, FISH, Array Technology, PCR-Based Testing, Sanger Sequencing, Karyotyping, Others

➥ By Specialty: Molecular Genetic Tests, Chromosomal Genetic Tests, Biochemical Genetic Tests

➥ By End User: Hospitals, Research Laboratories, Diagnostic Laboratories, Others

Research Process:

Both primary and secondary data sources have been used in the Rare Disease Genetic Testing Market research report. During the research process, a wide range of industry-affecting factors are examined, including governmental regulations, market conditions, competitive levels, historical data, market situation, technological advancements, upcoming developments, in related businesses, as well as market volatility, prospects, potential barriers, and challenges.

Most Frequently Asked Questions in the Rare Disease Genetic Testing Market Research Industry:

➠ Who leads the Rare Disease Genetic Testing industry and what's their competitive positioning regarding capacity, performance, and profitability?
➠ What growth opportunities and market challenges do Rare Disease Genetic Testing market vendors face?
➠ Which segments show the highest growth potential and market share distribution?
➠ What factors are driving or limiting Rare Disease Genetic Testing market growth?
➠ What are the dominant sales and distribution strategies in the Rare Disease Genetic Testing industry?

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Regional Analysis:

⇥ North America (U.S., Canada, Mexico)
⇥ Europe (U.K., Italy, Germany, Russia, France, Spain, The Netherlands and Rest of Europe)
⇥ Asia-Pacific (India, Japan, China, South Korea, Australia, Indonesia Rest of Asia Pacific)
⇥ South America (Colombia, Brazil, Argentina, Rest of South America)
⇥ Middle East & Africa (Saudi Arabia, U.A.E., South Africa, Rest of Middle East & Africa)

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✅ Competitive Landscape
✅ Technology Roadmap Analysis
✅ Sustainability Impact Analysis
✅ KOL / Stakeholder Insights
✅ Consumer Behavior & Demand Analysis
✅ Import-Export Data Monitoring
✅ Live Market & Pricing Trends

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