Rare Disease Genetic Testing Market Projected to Reach USD 3,790.38 Million by 2034, Growing at a CAGR of 13.2%

In 2024, the rare disease genetic testing market was valued at USD 1,106.88 million. Over the forecast period, it is anticipated to grow from USD 1,242.80 million in 2025 to USD 3,790.38 million by 2034 at a CAGR of 13.2%.

Market Details :
Rare disease genetic testing involves analyzing an individual's genetic material (DNA) to identify specific mutations or changes associated with a rare genetic disorder. This can help confirm or rule out a suspected diagnosis, provide insights into the underlying cause of a disease, and inform treatment and management strategies. The primary goal of rare disease genetic testing is to pinpoint genetic variations that cause a rare disease or condition. Genetic testing can involve analyzing specific genes known to be linked to a particular rare disease, or it can involve sequencing an individual's entire genome to identify a wider range of potential genetic changes. Identifying the specific genetic mutation by testing can shed light on the underlying mechanism of the disease, potentially leading to better understanding and management strategies.

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Growth Drivers:
• The growth of the market is being fueled by advancing technology and the growing occurrence of chronic diseases.

• The creation of tailored testing kits aimed at specific therapies is driving growth in the genetic testing market for rare diseases.

• The growing focus on early disease identification and prevention drives the expansion of the rare disease genetic testing market.

• The market is being fueled by the rising awareness about the importance of genetic testing in early cancer identification and risk evaluation.

Competitive Landscape:
The rare disease genetic testing market presents a competitive environment, comprising both established firms and new entrants seeking to enhance their market share. Some of the major players in the market are:
• 3billion, Inc.
• Ambry Genetics
• Baylor Genetics
• Blueprint Genetics (Quest Diagnostics)
• Centogene N.V.
• Eurofins Scientific
• GeneDx, LLC
• Genomenon
• Invitae Corporation
• Revvity

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Rare Disease Genetic Testing Industry Developments
• January 2024: Invitae formed a partnership with BridgeBio Pharma to advance genetics-based drug discovery for rare diseases, combining their expertise to drive innovation in the field.

• April 2023: Centogene N.V. introduced the new CentoGenome, an advanced whole genome sequencing test that provides comprehensive diagnostic insights for rare and neurodegenerative diseases.

• October 2022: Ambry Genetics launched a new reproductive health program, powered by its CARE ProgramTM (Comprehensive Assessment Risk and Education), a digital platform designed to enhance the patient and provider experience by offering easier access to genetic education, testing, reporting, and counseling.

Region-Wise Overview:
• North America represented the largest market share in 2024, due to the growing need for personalized genetic testing services and the increasing incidence of chronic and genetic diseases.

• Europe held the second largest share of the global market, propelled by an increase in chronic diseases and an elderly population.

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Segmental Analysis:
• The rare disease genetic testing market is segmented primarily based on specialty, technology, disease type, end use, and region.

• The next-generation sequencing (NGS) segment, based on technology, dominated the market share in 2024, because of its extensive usage in diagnosing a range of conditions, such as cardiovascular issues, neurological ailments, pediatric disorders, and mental health disorders.

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By Technology Outlook (Revenue, USD Million, 2020-2034)
• Next-Generation Sequencing
• Array Technology
• PCR-Based Testing
• FISH
• Sanger Sequencing
• Karyotyping

By Speciality Outlook (Revenue, USD Million, 2020-2034)
• Molecular Genetic Tests
• Chromosomal Genetic Tests
• Biochemical Genetic Tests

By Disease Type Outlook (Revenue, USD Million, 2020-2034)
• Neurological Disease
• Immunological Disorders
• Hematology Diseases
• Endocrine & Metabolism Diseases
• Cancer
• Musculoskeletal Disorders
• Cardiovascular Disorders
• Dermatology Disease
• Others

By End Use Outlook (Revenue, USD Million, 2020-2034)
• Research Laboratories & CROs
• Hospitals & Clinics
• Diagnostic Laboratories

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