Rare diseases are typically caused by genetic mutations that prevent normal bodily functions and are often difficult to diagnose due to the small number of individuals affected by them. Genetic testing for rare diseases can be pre-symptomatic, meaning it can detect the mutation before symptoms appear, or it can be diagnostic, used to confirm a clinical diagnosis. The process of rare disease genetic testing often involves the collection of a blood, saliva, or tissue sample, which is then analyzed using specialized laboratory techniques such as DNA sequencing, chromosomal microarray analysis, and other genetic testing methods. These tests can help identify genetic changes that may be associated with the specific rare disease. Rare disease genetic testing can also provide information on a person’s carrier status, which indicates whether they carry a mutation for a rare disease but do not show any symptoms. This information can be useful for family planning purposes, helping individuals understand the risk of passing on a rare disease to their children. According to the latest market study results, the global rare disease genetic testing market stood at around USD 918.0 million in 2022 and is projected to rise to a worth of USD 1,727.2 million by 2029 end, thereby garnering a CAGR of 9.45% during 2023-2029.

The report covers market size and growth, segmentation, regional breakdowns, competitive landscape, trends and strategies for global rare disease genetic testing market. It presents a quantitative analysis of the market to enable stakeholders to capitalize on the prevailing market opportunities. The report also identifies top segments for opportunities and strategies based on market trends and leading competitors’ approaches.

This industry report offers market estimates and forecasts of the global market, followed by a detailed analysis of the disease type, technology, specialty, end user, and region. The global market for rare disease genetic testing can be segmented by disease type: immunological disorders, cardiovascular disorders, neurology disease, endocrine and metabolism disorders diseases, hematology diseases, dermatology disease, others. The neurology disease segment held the largest share of the global rare disease genetic testing market in 2022 and is anticipated to hold its share during the forecast period. Rare disease genetic testing market is further segmented by technology: next generation sequencing, sanger sequencing, PCR based testing, array based testing, FISH, others. Globally, the next generation sequencing segment made up the largest share of the rare disease genetic testing market. Based on specialty, the rare disease genetic testing market is segmented into: molecular genetic tests, chromosomal genetic tests, biochemical genetic tests. The molecular genetic tests segment was the largest contributor to the global rare disease genetic testing market in 2022. On the basis of end user, the rare disease genetic testing market also can be divided into: hospitals & clinics, research laboratories & CROs, diagnostic laboratories, others. The research laboratories & CROs segment is estimated to account for the largest share of the global rare disease genetic testing market. Rare disease genetic testing market by region is categorized into: North America, Europe, Asia-Pacific, MEA (Middle East and Africa), Latin America.

Market Segmentation
By disease type: immunological disorders, cardiovascular disorders, neurology disease, endocrine and metabolism disorders diseases, hematology diseases, dermatology disease, others
By technology: next generation sequencing, sanger sequencing, PCR based testing, array based testing, FISH, others
By specialty: molecular genetic tests, chromosomal genetic tests, biochemical genetic tests
By end user: hospitals & clinics, research laboratories & CROs, diagnostic laboratories, others
By region: North America, Europe, Asia-Pacific, MEA (Middle East and Africa), Latin America

The global rare disease genetic testing market report offers detailed information on several market vendors, including Associated Regional and University Pathologists, Inc., Centogene NV, Eurofins Scientific SE, Fulgent Genetics Inc., OPKO Health, Inc., PerkinElmer Inc., Quest Diagnostics Incorporated, among others. In this report, key players and their strategies are thoroughly analyzed to understand the competitive outlook of the market.
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Scope of the Report
• To analyze and forecast the market size of the global rare disease genetic testing market.
• To classify and forecast the global rare disease genetic testing market based on disease type, technology, specialty, end user, region.
• To identify drivers and challenges for the global rare disease genetic testing market.
• To examine competitive developments such as mergers & acquisitions, agreements, collaborations and partnerships, etc., in the global rare disease genetic testing market.
• To identify and analyze the profile of leading players operating in the global rare disease genetic testing market.

Why Choose This Report
• Gain a reliable outlook of the global rare disease genetic testing market forecasts from 2023 to 2029 across scenarios.
• Identify growth segments for investment.
• Stay ahead of competitors through company profiles and market data.
• The market estimate for ease of analysis across scenarios in Excel format.
• Strategy consulting and research support for three months.
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