Cytogenetics Market Size, Share, Forecast, & Trends Analysis by Offering (Consumables, Instruments, Software, Services), Technique (Comparative Genomic Hybridization, FISH, Karyotyping), Application (Clinical, Research), End User - Forecast to 2031

The Cytogenetics Market was valued at $2.6 billion in 2023. This market is expected to reach $5.5 billion by 2031 from an estimated $2.9 billion in 2024, at a CAGR of 9.6% during the forecast period of 2024-2031.

Cytogenetics Market Size & Forecast

The growth of the cytogenetics market is driven by the increasing focus on preventive healthcare measures, prevalence of genetic abnormalities, the increasing aging population and subsequent increase in various chronic diseases, growing need to reduce mounting healthcare cost, and increasing focus on research and clinical diagnosis. Furthermore, emerging economies: China, India, South Korea, and Southeast Asia, increasing focus on target-based therapies, and increase in predictive and presymptomatic genetic testing are expected to generate growth opportunities for the stakeholders present in this market.

Key Findings

• By Offering: The Consumables Segment to Dominate the Cytogenetics Market in 2024.
• By Technique: The Comparative Genomic Hybridization Segment to Dominate the Cytogenetics Market in 2024.
• By Application: The Clinical Applications to Dominate the Cytogenetics Market in 2024.
• By End User: The Clinical & Diagnostic Laboratories to Dominate the Cytogenetics Market in 2024.

Cytogenetics Market Growth Trends

Use of Chromosome Conformation Capture (3C) in Cytogenetics

Chromosome conformation capture (3C) and its variations (4C, 5C, Hi-C, etc.) are cytogenetic techniques that use the three-dimensional organization of chromosomes and the developments of this structuring on the control and expression of genes. Emphasis is placed on discerning interactions that span distances within the genome between seemingly unconnected regions that are not next to each other in their one-dimensional organization, but which can be located close together in the three-dimensionality of the cell nucleus.

Some of the applications of 3C in cytogenetics are gene regulation studies, chromatin interaction mapping, structural variants and disease detection, characterization of chromosomal territories, comparative genomics and evolution, and understanding the structural variations and their effects on gene expression. Therefore, 3C plays an important role in modern cytogenetics by revealing dynamic 3D organization of the genome and how it affects gene function, chromosome structure, and disease mechanisms.

Transition From Fluorescence In Situ Hybridization (FISH) to Array Based Techniques

The shift from the fluorescence in situ hybridization (FISH) to array-based techniques in cytogenetics has led to the introduction of new ways and procedures for studying and diagnosing chromosomal abnormalities and genetic disorders. Despite FISH being a tool of fundamental importance for many years, the increasing use of array-based technologies has enabled physicians to get the chromosomal picture of the entire genome, thus, changing the field altogether which has been a breakthrough technology. Some of the array-based techniques include array comparative genomic hybridization (aCGH) and single nucleotide polymorphism (SNP) arrays. These techniques are being used instead of conventional cytogenetic techniques and allow the genome-wide detection of chromosomal abnormalities in a more comprehensive and high-throughput manner.

The use of array-based techniques can be used for genome-wide coverage, higher resolution to detect submicroscopic changes, detection of novel and unknown variants, multiplexing and high throughput to study several samples in parallel, and quantitative analysis.

Cytogenetics Market Opportunities

Rise in Predictive and Presymptomatic Genetic Testing

Predictive and presymptomatic genetic tests enables early identification of genetic risks for diseases such as neurodegenerative disorders, cancer and cardiovascular conditions, enabling proactive management and personalized care. As healthcare is shifting towards prevention, the demand for advanced cytogenetic techniques such as FISH and array CGH is increasing. Advancements in genomics and precision medicine make tests more accurate and affordable, improves accessibility. The growing adoption of predictive and presmptomatic testing by providers, insurance companies and government, creates opportunities for cytogenetics market expansion and innovation.

Cytogenetics Market Analysis: Top Market Opportunity

By Offering: In 2024, Consumables Segment is Expected to Dominate the Cytogenetics Market

Based on offering, the cytogenetics market is segmented into instruments, consumables, software, and services. The consumables segment is further sub-segmented into kits & reagents and other consumables. In 2024, the consumables segment is expected to account for the largest share of the cytogenetics market. The large share of this segment is attributed to the repeated use of reagents and kits, the development of user-friendly kits, the increasing adoption of genetic kits in research laboratories, and the rising demand for pre-designed panels. Kits & reagents are critical for accurate & faster genetic testing analysis. Advancements in test kits and reagents enable laboratories to perform multiple tests simultaneously. The rising prevalence of genetic diseases primarily drives the growth of the segment. An increase in genetic diseases triggers the demand for chromosomal testing and genetic tests, fueling the demand for consumables and reagents.

Moreover, the consumables segment is also expected to grow at the highest CAGR of during the forecast period of 2024 to 2031. Increased genetic and rare disease research by biopharmaceutical companies, contract research organizations, and research laboratories drive the demand for consumables and reagents. Other factors include the increasing demand for early genetic disease diagnosis, increasing chronic disease cases, and growth in the elderly population. These factors contribute to the fastest growth of the segment.

By Application: In 2024, Clinical Applications Segment is Expected to Dominate the Cytogenetics Market

Based on applications, the global cytogenetics market is segmented into clinical applications and research applications. In 2024, the clinical applications segment is expected to account for the largest share of 82.6% of the global cytogenetics market. The large share of the segment is attributed to factors such as the growing prevalence of genetic diseases, rising adoption for prenatal testing to identify potential genetic mutations and to be treated at earlier stages, and growing investments by diagnostic laboratories to automate the facilities for cytogenetic studies.

By End User: In 2024, Clinical & Diagnostic Laboratories Segment is Expected to Dominate the Cytogenetics Market

Based on end users, the global cytogenetics market is segmented into clinical & diagnostic laboratories, pharmaceutical & biotechnology companies, research & academic institutes, and other end users. In 2024, the clinical & diagnostic laboratories segment is expected to account for the largest share of 36.8% of the global cytogenetics market. The large share of this segment is attributed to factors such as the urgency in medical decision-making, increasing healthcare expenditure, and the rising number of hospitals across emerging markets.

Geographic Analysis

North America to Dominate the Cytogenetics Market in 2024

In 2024, North America is estimated to account for the largest share of 45.8% of the global cytogenetics market. The region’s large share of the cytogenetics market is primarily attributed to high R&D spending by pharmaceutical & biotechnology companies on drug development and biomarker identification, increasing cases of genetic diseases, growing awareness about early diagnosis of genetic disorders, government encouragement for genetic testing in cases of hereditary cancers and newborn screening, and the presence of major market players in the region. High healthcare expenditure has enabled access to advanced medical diagnostics and treatments in the region. North America’s per capita health expenditure increased to USD 11,818.37 in 2022 from USD 11,119.1 in 2021.

However, Asia-Pacific is expected to grow at the highest CAGR during the forecast period. This Market’s growth is attributed to rising pharmaceutical R&D spending, growth in the biotechnology industry, the increasing prevalence of chronic and infectious diseases, and the rising number of diagnostic laboratories are driving the growth of the cytogenetics market in Asia-Pacific. Economic growth has increased regional governments’ focus on healthcare, with increasing investments aimed at improving access to healthcare facilities and building better healthcare infrastructure.

Cytogenetics Market: Key Companies

The report includes a competitive landscape based on an extensive assessment of the Component offerings, geographic presence, and key strategic developments of leading Market players (2021–2024). The key players operating in the Cytogenetics Market are Thermo Fisher Scientific, Inc. (U.S.), Abbott Laboratories (U.S.), Agilent Technologies, Inc. (U.S.), Revvity, Inc. (U.S.), Bio-Rad Laboratories, Inc. (U.S.), Applied Spectral Imaging, Inc. (U.S.), Quest Diagnostics Incorporated (U.S.), F. Hoffmann-La Roche Ltd. (Switzerland), Danaher Corporation (U.S.), Illumina, Inc. (U.S.) and Sysmex Corporation (Japan).

Cytogenetics Market Overview: Latest Developments from Key Industry Players

• In July 2024, Leica Biosystems has opened a new R&D facility in Newcastle upon Tyne, the U.K for companion diagnostics developments.
• In July 2024, Quest Diagnostics collaborated with Becton, Dickinson and Company (U.S.) to development, manufacture and commercialization of flow cytometry-based companion diagnostics for treatment of cancer or other serious disease. This collaboration expands companion diagnostic portfolio.
• In December 2023, Applied Spectral Imaging collaborated with CytoCell (division of OGT) (Sysmex group), provides diagnostics genomic solutions, to combine CytoCell’s FISH portfolio with ASI’s imaging. This collaboration expands global reach and provides solutions for cytogenetics.
• In August 2022, Roche launched the digital LightCycler PCR system for in-vitro diagnostic testing to identify disease mutations in DNA or RNA. This expands product portfolio in diagnostics segment. 
• In December 2021, Roche has launched AVENIO Edge System for sample preparation workflow to support comprehensive testing with highly accurate outcomes for precision medicine.

Cytogenetics Market Research Summary

Key questions answered in the cytogenetics market report: