<img src="https://ml.globenewswire.com/Resource/Download/d6272c2e-d204-41b8-b545-a6e2e24f85c2?size=2" nborder="0" align="left" hspace="5" vspace="5" title="sns insider pvt ltd.png" alt="SNS Insider pvt ltd"/>U.S. Market Expected to Hit USD 1.80 Billion by 2035; Europe Projected to Reach USD 1.67 Billion as Rare Disease Screening Programs Expand.Austin, United States, June 08, 2026 (GLOBE NEWSWIRE) -- “As per the SNS Insider, the <a href="https://www.globenewswire.com/Tracker?data=9b8AIpqty_Pbsk9pjKgbaxzXYj5cDcdq8bGENRs1D3iUWqWXucqmWdORKQ3KyjHa4wQey_ou2fsPLh-NQ4nvpnkQQeX7gToPJTC8OSzQkLQGMwmo9vIBClrS8WQdbXSuf99sErruIBXaIFRSZvZlhuw9LwJEA3UkbMafGWu4y6GTBbpNZ4CxbJOjaW2jn021" rel="nofollow" target="_blank" title="Rare Disease Genetic Testing Market">Rare Disease Genetic Testing Market</a> is valued at USD 1.40 billion in 2025 and is projected to reach USD 5.72 billion by 2035, growing at a CAGR of 15.36% during 2026–2035.” The market growth is driven by the rising prevalence of rare diseases, increasing demand for early and accurate diagnosis, and rapid advancement in NGS technologies. As the field of genetic testing continues to grow and evolve, with more than 350 million people affected by rare diseases worldwide and almost 80% of rare diseases driven by genetic causes, genetic testing are routinely being incorporated into clinical and research settings. <img alt="Rare Disease Genetic Testing Market" height="400" src="https://ml.globenewswire.com/Resource/Download/bb83f5cd-9400-4412-a6dd-b3551a110d3b/rare-disease-genetic-testing-market.jpg" width="600" data-dpi="96" data-filename="Rare-Disease-Genetic-Testing-Market.jpg" /> Get a Sample Report of Rare Disease Genetic Testing Market Forecast @ <a href="https://www.globenewswire.com/Tracker?data=IDLQMVBrMczzD4wxohyg0qfHq6fZtHgjryZ4MgeeKAtzN60C-dZZExjuZF_nLEpI-5Wo44wTvg6AWMnWQvxXjbhME4BZZP-BxBlfIuRGsUzIP7aWViiWUy38A6vugi2FV-m8b3vtbqYnjQVf13GE6MpfkwKUek1lYCNCsnW-WNI=" rel="nofollow" target="_blank" title="">https://www.snsinsider.com/sample-request/6397</a> The decreasing costs of genome sequencing, increasing newborn screening programs and expanding integration of artificial intelligence and bioinformatics tools providing more accurate diagnosis in a shorter time period. Moreover, with rising government funding for research in rare diseases and increasing investments for orphan drug development, the demand for rare disease genetic testing solutions is also surging across the globe. Leading Market Players Listed in the Rare Disease Genetic Testing Market Report are: <ul><li style="margin-top:0cm; margin-bottom:0cm;">GeneDx, LLC</li><li style="margin-top:0cm; margin-bottom:0cm;">Blueprint Genetics (Quest Diagnostics)</li><li style="margin-top:0cm; margin-bottom:0cm;">Invitae Corporation</li><li style="margin-top:0cm; margin-bottom:0cm;">Ambry Genetics</li><li style="margin-top:0cm; margin-bottom:0cm;">Baylor Genetics</li><li style="margin-top:0cm; margin-bottom:0cm;">Centogene N.V.</li><li style="margin-top:0cm; margin-bottom:0cm;">3billion, Inc.</li><li style="margin-top:0cm; margin-bottom:0cm;">Eurofins Scientific</li><li style="margin-top:0cm; margin-bottom:0cm;">BGI Group</li><li style="margin-top:0cm; margin-bottom:0cm;">Revvity (PerkinElmer)</li><li style="margin-top:0cm; margin-bottom:0cm;">Agilent Technologies, Inc.</li><li style="margin-top:0cm; margin-bottom:0cm;">Illumina, Inc.</li><li style="margin-top:0cm; margin-bottom:0cm;">Pacific Biosciences (PacBio)</li><li style="margin-top:0cm; margin-bottom:0cm;">Oxford Nanopore Technologies</li><li style="margin-top:0cm; margin-bottom:8pt;">Thermo Fisher Scientific</li></ul> Rare Disease Genetic Testing Market Segmentation Analysis: By Technology Next-Generation Sequencing (NGS) accounted for the largest market share of ~33.9% in 2025 due to due to the capability of conducting multi-genetic variant analysis in large genomic regions at significantly lower costs than before. Whole Genome Sequencing (WGS) is projected to generate the highest growth rate through 2035 due to the low cost of genome sequencing which has decreased significantly. By Disease Type Immunological Disorders accounted for the largest market share of ~10.5% in 2025 due to the high prevalence rate of primary immunodeficiency diseases, autoimmune diseases, and complement system disorders globally. The Endocrine &amp; Metabolism Diseases are forecasted to have the highest CAGR during 2026–2035 due to the increasing recognition and awareness about inherited metabolic diseases globally. By End-Use Research Laboratories &amp; CROs accounted for the largest market share in 2025 due to extensive research conducted on rare diseases to understand the physiology of these diseases and their biomarkers. The Diagnostic Laboratories segment will witness the highest CAGR of around 17.36% throughout the forecast period due to the growing number of patients being referred for rare disease genetic testing through hospital-based genetic laboratories globally. Regional Insights: North America region dominated the Rare Disease Genetic Testing Market in 2025 with approximately 38% of global revenues. The United States has the world’s most sophisticated regulatory framework for rare diseases and the FDA Orphan Drug Designation and Breakthrough Therapy options to drive companion diagnostic development. The U.S. Rare Disease Genetic Testing Market was valued at USD 0.42 billion in 2025 and is expected to reach USD 1.80 billion by 2035, registering a CAGR of 16.01% during 2026–2035. The U.S. Rare Disease Genetic Testing Market receives a strong boost from federal programs including the National Institutes of Health’s Undiagnosed Diseases Program, FDA’s financial incentives for the treatment of rare pediatric diseases and the general framework offered by the Orphan Drug Act. The Europe Rare Disease Genetic Testing Market is estimated to be USD 0.42 Billion in 2025 and is projected to reach USD 1.67 Billion by 2035, growing at a CAGR of 14.84% during 2026–2035. Europe accounted for around 30% share of global share of Rare Diseases Genetic Testing Market in 2025. This concerted move to promote the use of genetic testing can be seen in the European Reference Networks for rare diseases, the EU framework for orphan medicinal products, and rare diseases diagnostics programmes in the UK, France, Germany and the Netherlands. The Asia Pacific region is expected to grow at the highest CAGR during the forecast period owing to the rapidly increasing government-funded rare disease genomics programs in China, Japan, and South Korea, rising investments in healthcare infrastructure in emerging economies across Asia, and increasing awareness of genetic testing among patient communities suffering from rare diseases. Purchase Single User PDF of Rare Disease Genetic Testing Market Report (20% Discount) @ <a href="https://www.globenewswire.com/Tracker?data=IDLQMVBrMczzD4wxohyg0qfHq6fZtHgjryZ4MgeeKAsvjCbvsRWawzOQzQDBcUo8yQmNoYQEVE0ZJH5182Kr5ialrDbqOHUw_MTcqvBGM17sNN0H2KH_Hm401FeFW2RSNV5FwkSshUz6O2JOBPHQBA==" rel="nofollow" target="_blank" title="">https://www.snsinsider.com/checkout/6397</a> Recent Developments: <ul><li style="margin-top:0cm; margin-bottom:0cm;">2026: Multiple leading rare disease genetic testing laboratories announced expansions of their AI-powered variant interpretation capabilities, incorporating phenotype-genotype correlation algorithms trained on large rare disease patient cohorts to improve diagnostic yield.</li><li style="margin-top:0cm; margin-bottom:8pt;">2025 (April): GeneDx launched an enhanced version of its whole-exome sequencing platform incorporating improved structural variant detection and AI-powered phenotype integration, enabling higher diagnostic yield for patients with previously undiagnosed rare diseases.</li></ul> Exclusive Sections of the Report (The USPs): <ul><li style="margin-top:0cm; margin-bottom:0cm;">RARE DISEASE PREVALENCE &amp; DIAGNOSTIC DEMAND ANALYSIS – helps you understand regional rare disease burden, inherited genetic disorder prevalence, and diagnosis trends across pediatric and adult patient populations.</li><li style="margin-top:0cm; margin-bottom:0cm;">GENETIC TESTING ADOPTION METRICS – helps you evaluate the adoption of NGS, whole genome sequencing, whole exome sequencing, prenatal testing, and newborn screening programs across healthcare systems.</li><li style="margin-top:0cm; margin-bottom:0cm;">DIAGNOSTIC EFFICIENCY &amp; WORKFLOW PERFORMANCE METRICS – helps you identify improvements in diagnostic timelines, genomic data analysis, laboratory automation, bioinformatics integration, and testing turnaround times.</li><li style="margin-top:0cm; margin-bottom:0cm;">PRECISION MEDICINE &amp; TECHNOLOGICAL ADOPTION RATE – helps you uncover opportunities related to multi-omics technologies, AI-driven genetic analysis, CRISPR research, cloud-based genomics platforms, and personalized medicine initiatives.</li><li style="margin-top:0cm; margin-bottom:0cm;">REIMBURSEMENT, FUNDING &amp; REGULATORY INSIGHTS – helps you assess government funding, insurance reimbursement trends, research investments, regulatory approvals, genomic data privacy requirements, and laboratory quality standards.</li><li style="margin-top:0cm; margin-bottom:8pt;">COMPETITIVE LANDSCAPE – helps you gauge the competitive strength of key players in the market backed by an analysis of their genetic testing portfolios, sequencing capabilities, diagnostic innovations, strategic collaborations, geographic reach, and recent developments.</li></ul> Rare Disease Genetic Testing Market Report Scope <table align="center" style="border-collapse: collapse; width:100%; border-collapse:collapse ;"><tr><td style="border-top: solid black 1pt ; border-right: solid black 1pt ; border-bottom: solid black 1pt ; border-left: solid black 1pt ; ">Report Attributes</td><td style="border-top: solid black 1pt ; border-right: solid black 1pt ; border-bottom: solid black 1pt ; ">Details</td></tr><tr><td style="border-right: solid black 1pt ; border-bottom: solid black 1pt ; border-left: solid black 1pt ; vertical-align: top ; ">Market Size in 2025</td><td style="border-right: solid black 1pt ; border-bottom: solid black 1pt ; vertical-align: top ; ">USD 1.40 Billion</td></tr><tr><td style="border-right: solid black 1pt ; border-bottom: solid black 1pt ; border-left: solid black 1pt ; vertical-align: top ; ">Market Size by 2035</td><td style="border-right: solid black 1pt ; border-bottom: solid black 1pt ; vertical-align: top ; ">USD 5.72 Billion</td></tr><tr><td style="border-right: solid black 1pt ; border-bottom: solid black 1pt ; border-left: solid black 1pt ; vertical-align: top ; ">CAGR</td><td style="border-right: solid black 1pt ; border-bottom: solid black 1pt ; vertical-align: top ; ">CAGR of 15.36% From 2026 to 2035</td></tr><tr><td style="border-right: solid black 1pt ; border-bottom: solid black 1pt ; border-left: solid black 1pt ; vertical-align: top ; ">Base Year</td><td style="border-right: solid black 1pt ; border-bottom: solid black 1pt ; vertical-align: top ; ">2025</td></tr><tr><td style="border-right: solid black 1pt ; border-bottom: solid black 1pt ; border-left: solid black 1pt ; vertical-align: top ; ">Forecast Period</td><td style="border-right: solid black 1pt ; border-bottom: solid black 1pt ; vertical-align: top ; ">2026-2035</td></tr><tr><td style="border-right: solid black 1pt ; border-bottom: solid black 1pt ; border-left: solid black 1pt ; vertical-align: top ; ">Historical Data</td><td style="border-right: solid black 1pt ; border-bottom: solid black 1pt ; vertical-align: top ; ">2022-2024</td></tr><tr><td style="border-right: solid black 1pt ; border-bottom: solid black 1pt ; border-left: solid black 1pt ; ">Key Segments</td><td style="border-right: solid black 1pt ; border-bottom: solid black 1pt ; ">• By Technology (Next-Generation Sequencing (NGS), Whole Exome Sequencing (WES), Whole Genome Sequencing (WGS), PCR-Based Testing, Chromosomal Microarray Analysis, Sanger Sequencing, Karyotyping, Others) • By Specialty (Molecular Genetic Tests, Chromosomal Genetic Tests, Biochemical Genetic Tests) • By Disease Type (Immunological Disorders, Endocrine &amp; Metabolism Diseases, Cardiovascular Disorders, Neurological Disorders, Hematology &amp; Oncology, Musculoskeletal Disorders, Others) • By End-Use (Research Laboratories &amp; CROs, Hospitals &amp; Clinics, Diagnostic Laboratories</td></tr><tr><td style="border-right: solid black 1pt ; border-bottom: solid black 1pt ; border-left: solid black 1pt ; ">Regional Analysis/Coverage</td><td style="border-right: solid black 1pt ; border-bottom: solid black 1pt ; ">North America (US, Canada), Europe (Germany, UK, France, Italy, Spain, Russia, Poland, Rest of Europe), Asia Pacific (China, India, Japan, South Korea, Australia, ASEAN Countries, Rest of Asia Pacific), Middle East &amp; Africa (UAE, Saudi Arabia, Qatar, South Africa, Rest of Middle East &amp; Africa), Latin America (Brazil, Argentina, Mexico, Colombia, Rest of Latin America).</td></tr></table> Related Market Reports <a href="https://www.globenewswire.com/Tracker?data=ospGjfQOLmnV7PPEm0O53stCu9qSTPHLa_m2b1pWNsJUgkTyAG8eMRcTlf7YWhsHNU4SLeeTQJiPi18oOa9wAdLgoeilKS-djwm-16NH33enLxsByjLdjzYjoT8IpxEgvdkLA6KoMO0PE22g9LXYwWYMHHGB1XWowaPi5Cq1qqSTzkabLIsRYs2UBaj1TOUS" rel="nofollow" target="_blank" title="Whole Exome Sequencing Market Size Report 2026">Whole Exome Sequencing Market Size Report 2026</a> <a href="https://www.globenewswire.com/Tracker?data=S1c6Hkbinsz1OWuRNlyJFHDAFSiSBXhkfjvVi8zXscN_LFM9iSw03mwMQXJuC6qeWIejSwmRN1h0xyqxsdBfTgoxrKA1xjOWFR9uvLwglk8aH0KE_mNmhWQBr_UrTVVJGBcYC4iOdcQKP9ErF1Ly3c5yC58aWRKWvLYpEHewJP-1ZLwml3mcBXcJjV_c-jJK" rel="nofollow" target="_blank" title="DNA Diagnostics Market Growth Analysis 2026">DNA Diagnostics Market Growth Analysis 2026</a> <a href="https://www.globenewswire.com/Tracker?data=IHCDJ9C_rPuZWDwAlWJfefoCGrnAIK2BW7UjGZGl1REQqL2JCvHA71T6HvymgTIjQJQHW1DK3vVOV6CVH3LzjFqDeElZTlnci5wPKuh6iCYe3ZeCHuVGV8qdlb_0RPYObJ2AjVpgyTi_mGfC-QHgrdywpUgjgoY5_CcCEjuD-9hJ20YzkfJXgjvp96s3Rb7A10bLEMp_C-IfK4v-9jDd-Q==" rel="nofollow" target="_blank" title="Cell-Free DNA (cfDNA) Testing Market Trends Report 2026">Cell-Free DNA (cfDNA) Testing Market Trends Report 2026</a> <a href="https://www.globenewswire.com/Tracker?data=szCtI726LybYZxJ2z1Sqcj1m1UsJd2KUWDoPiKuk-xROlZnWWDNt0YidiVAimiOUKgAwVqna1IoEmyiDIK3UizfzNMInWW0aiiZ_7F0qkEYFyIwvBY4FDvdCYCdXofRHLyNn-8MGMP23taGVi7EmyGJX1LKnu5J81bCaO5yhPyjyCze8pFNOLFLjozS77IsX" rel="nofollow" target="_blank" title="Biomarker Testing Market Size Outlook 2026">Biomarker Testing Market Size Outlook 2026</a> <a href="https://www.globenewswire.com/Tracker?data=73rnmzZXJqraLDoV0nUQ8DYCUi1xsTZUCVKKmj8ReDaCtgcfc1CuMr5GUumfD3YePTGkFcWRk5IE8qR1vAjNiiuXrxiTWvmIUIiUlL1TUhpd9bngptQKSlEoT7bbgDnaKggr2a35IfGONVlA3t_n7gCsUzljqQaTDcRZXuo2XJSGLfM8fC0hKM31DJczH3mo" rel="nofollow" target="_blank" title="Pharmacogenomics Market Growth Trends 2026">Pharmacogenomics Market Growth Trends 2026</a> About Us: SNS Insider is one of the leading market research and consulting agencies that dominates the market research industry globally. 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Global Rare Disease Genetic Testing Market Projected to Hit USD 5.72 Billion by 2035, at 15.36% CAGR – SNS Insider

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