Global Rare Disease Diagnostics Market Major Players 2024, Forecast To 2033

8 Mar, 2024

The rare disease diagnostics market rose from $32.15 billion in 2023 to $35 billion in 2024, with an 8.9% CAGR, due to healthcare needs. Expected to reach $49.94 billion by 2028, with a 9.3% CAGR, driven by prevalence and initiatives. Trends include genetic testing advancements and investments.

Global Rare Disease Diagnostics Market Key Driver

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Global Rare Disease Diagnostics Market Segments

The rare disease diagnostics market covered in this report is segmented –
1) Test Type:Genetic Test, General Lab Test, Imaging Test
2) Technology:Capillary Sequencing, Whole Genome Sequencing, Whole Exome Sequencing, Microarrays
3) Sample Type:Deoxyribonucleic Acid (DNA) Sample, Buccal Swab Sample, Blood, Saliva
4) Disease Type:Gastroenterology Disease, Endocrine And Metabolism Disorders Disease, Hematology And Oncology Disease, Dermatology Disease, Cardiovascular Disorders, Neurology Disease
5) End User:Hospital Laboratories, Diagnostics Laboratories, Genetic Testing Laboratories, Cancer Research Laboratories
By Geography: The countries covered in the rare disease diagnostics market report are Australia, Brazil, China, France, Germany, India, Indonesia, Japan, Russia, South Korea, UK, USA, Italy, Spain, Canada. North America was the largest region in the rare disease diagnostics market in 2023. Asia-Pacific is expected to be the fastest-growing region in the forecast period. The regions covered in the rare disease diagnostics market report are Asia-Pacific, Western Europe, Eastern Europe, North America, South America, Middle East, Africa

Major Rare Disease Diagnostics Industry Players

Thermo Fisher Scientific Inc.; Roche Diagnostics; Laboratory Corporation of America Holdings; Quest Diagnostics Incorporated; Astellas Pharma Inc.; Eurofins Scientific SE; Agilent Technologies Inc.; PerkinElmer Inc.; Sanofi Genzyme; Illumina Inc.; Bio-Rad Laboratories Inc.; Qiagen NV; BioMarin Pharmaceutical Inc.; OPKO Health Inc.; Sarepta Therapeutics Inc.; Natera Inc.; Invitae Corporation; Ultragenyx Pharmaceutical Inc.; Travere Therapeutics Inc.; BGI Genomics Co. Ltd.; 23andMe Holding Co.; Ambry Genetics Corporation; Centogene N.V.; GENEWIZ Inc.; Blueprint Genetics Inc.; Oxford Gene Technology Limited; Strand Life Sciences Pvt. Ltd.; Agios Pharmaceuticals Inc.; Orphazyme A/S; RareCyte Inc.

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Rare Disease Diagnostics Market Overview

Rare disease diagnostics refers to the process of identifying and diagnosing medical conditions that are considered rare or uncommon. These diagnostics are used for early detection and diagnosis, as well as the selection of targeted and personalized treatment plans for uncommon disorders.