The carrier testing services market is projected to reach US$2,310.79 million by 2031 from US$791.19 million in 2024. The market is projected to register a CAGR of 16.9% from 2025 to 2031. Major factors driving market growth include the rising prevalence of genetic diseases, increasing focus on personalized/preventive healthcare, and favorable government & regulatory support. They are propelling the acceptance of carrier testing services. Furthermore, the surging demand for personalized and home healthcare devices is expected to drive market growth during the forecast period. However, the high cost of genetic testing services, the social and ethical implications of carrier testing services, limited access to genetic counsellors, and interpretation challenges are among the market deterrents.

In the US, the nation boasts a well-developed healthcare system where the use of genetic counseling, next-generation sequencing (NGS), and carrier screening panels is the norm. Laboratories and companies, such as Natera, maintain CLIA-certified facilities, which enable them to provide thorough carrier tests. Expanded carrier screening is widely accepted in reproductive medicine as well as in preconception and prenatal care. Ethical and regulatory measures, such as the Genetic Information Nondiscrimination Act (GINA), are implemented to alleviate concerns about the use of genetic data. There is a deepening connection between carrier testing and assisted reproduction. Generally, couples going through IVF or those wishing to build a family choose to do carrier tests to figure out the chance of inherited diseases. The US market is very competitive and technology-driven, and is making progress toward preventive and personalized reproductive health through carrier screening.

The comparative company analysis evaluates and categorizes the carrier testing services market based on product portfolio (product satisfaction, product features, and availability), recent market developments (merger & acquisition, new product launch & enhancement, investment & funding, award, agreement, collaboration, & partnership, recognition, and expansion), and geographic presence that aids better decision-making and understanding of the competitive landscape. The report thoroughly examines the recent significant developments and innovations by leading vendors in the global carrier testing services market. The key market players include Eurofins Scientific SE, Quest Diagnostics Inc., Myriad Genetics Inc., Illumina Inc., Thermo Fisher Scientific Inc., OPKO Health Inc., Laboratory Corp of America Holdings, Fulgent Genetics, Inc., MedGenome Inc., and Gene By Gene Ltd.

In terms of type, the carrier testing services market is segmented into expanded carrier screening and targeted disease carrier screening. The expanded carrier screening segment held a larger market share in 2024, owing to experiencing rapid growth, driven by updated clinical guidelines, innovative product developments, and the increasing adoption of large-scale screening programs, which is leading the carrier testing services market.

Based on medical condition, the carrier testing services market is categorized into pulmonary conditions, hematological conditions, neurological conditions, and other medical conditions. The pulmonary conditions segment accounted for the largest share of the carrier testing services market in 2024. Within the carrier testing market, pulmonary conditions primarily signify genetically caused lung diseases, among which are cystic fibrosis (CF), one of the most prevalent inherited respiratory disorders in the reproductive milieu. Because CF is a life-limiting disease and requires intensive, lifelong, and expensive care, it is essential to know the carrier status of the parents-to-be. Most of the time, expanded carrier screening (ECS) panels include genes that carry the CF mutation, which is why this condition is the primary driver for the segment.

Based on end-user, the carrier testing services market is segmented into hospital-based laboratories, diagnostic laboratories, and other end-users. The hospital-based laboratories segment held a larger market share in 2024, owing to experiencing rapid growth, driven by the implementation of newborn genetic screening programs becoming routine, an increased consciousness of hereditary diseases, and a rise in chronic illnesses, which, to a certain extent, are of genetic origin.

Companies operating in the carrier testing services market adopt various organic and inorganic strategies. The organic strategies mainly include product launches and product approvals. Inorganic growth strategies witnessed in the market are acquisitions, collaborations, and partnerships. These growth strategies enable market players to expand their businesses, enhance their geographic presence, and contribute to overall market growth. Furthermore, acquisitions and partnerships helped strengthen their customer base and extend their product portfolios. The following are a few significant developments by key players in the carrier testing services market.

In June 2025, Myriad Genetics Inc. announced the early access launch of its FirstGene Multiple Prenatal Screen, based on a large-scale clinical study.

In March 2025, Bio-Techne's Asuragen partnered with Oxford Nanopore Technologies to release the AmplideX Nanopore Carrier Plus Kit for research carrier screening.

In August 2024, LabCorp finalized the acquisition of select Invitae assets, thereby enhancing its leadership in genetic testing for oncology and rare diseases while integrating advanced genetic testing capabilities with its existing services.