(MENAFN- Navistrat Analytics) November 11, 2025- DNA sequencing, the process of determining the precise order of nucleotides in an individual’s genetic code, has revolutionized genetic research and become a vital tool for diagnosing hereditary diseases. It enables scientists and clinicians to better understand the genetic foundations of both rare and complex disorders. Whole Exome Sequencing (WES) plays a crucial role in diagnosing skeletal and muscular conditions such as muscular dystrophy and osteogenesis imperfecta by analyzing all protein-coding regions of the genome.

WES provides comprehensive insights into both germline and somatic mutations within tumor samples, offering a broader picture than targeted sequencing. It can identify low-frequency mutations that collectively contribute to complex phenotypes, making it a powerful method for understanding disease mechanisms.

In February 2025, Roche unveiled its patented Sequencing by Expansion (SBX) technology, marking a significant advancement in next-generation sequencing (NGS). When combined with a novel sensor module, SBX enables ultra-fast, high-throughput sequencing that is highly scalable and adaptable for multiple applications, including whole genome sequencing, whole exome sequencing, and RNA sequencing. This innovation represents a major step forward in precision genomics.

Despite its strengths, WES has certain limitations—such as restricted taxonomic resolution, variations in rRNA gene copy numbers, and PCR-induced biases. While amplicon-based methods are often seen as limited to detecting known variants like SNPs and InDels, they can also be used to identify broader genomic alterations beyond hotspot mutations.

Segments market overview and growth Insights
Based on product and service, whole-exome sequencing market is segmented into instruments, kits & consumables, software & bioinformatics solutions, and services. Instruments segment contributed the largest share in 2024. Exome sequencing, a capture-based approach, focuses on detecting genetic variations that affect protein function. Various capture methods—such as PCR, hybrid capture, and molecular inversion probes—are employed, with in-solution capture being the most efficient. This technique is especially valuable for identifying pathogenic mutations in Mendelian disorders, which are typically caused by single-gene defects.

Regional market overview and growth insights
North America held the largest market share in 2024. Market growth is primarily driven by technological advancements and the rising adoption of personalized or precision medicine. Continuous improvements in sequencing platforms are transforming diagnostic strategies across biomedical research. For instance, in October 2024, Element Biosciences launched Trinity, a breakthrough solution that streamlines target capture sequencing by reducing hybridization times and simplifying workflows on the AVITI System, without compromising cost or quality.

Competitive Landscape and Key Competitors
The Whole-Exome Sequencing market is characterized by a fragmented structure, with many competitors holding a significant share of the market. List of major players included in the Whole-Exome Sequencing market report are:

o Illumina, Inc.
o Integrated DNA Technologies, Inc
o CD Genomics
o CENTOGENE GmbH
o Caris Life Sciences
o Thermo Fisher Scientific Inc.
o Celemics, Inc.
o PreventionGenetics
o F. Hoffmann-La Roche Ltd
o QIAGEN
o GENEWIZ from Azenta
o Source BioScience
o Admera Health
o Twist Bioscience

Major strategic developments by leading competitors
Almac Diagnostic Services: In August 2023, Almac Diagnostic Services expanded its NGS capabilities after installing the first Illumina NovaSeq X Plus instrument in Northern Ireland, enhancing sequencing capacity for BioPharma clients.

QIAGEN: In January 2023, QIAGEN entered an exclusive strategic partnership with Helix, a leader in population genomics, to advance companion diagnostics for genetic disorders. This collaboration leverages Helix’s FDA-approved whole exome sequencing platform, marking another milestone in next-generation genomic analysis.

Navistrat Analytics has segmented the Whole-Exome Sequencing market based on product and servicr, technology, application, end-use, and region:
• Product and Service Outlook (Revenue, USD Million; 2022-2032)
o Instruments
o Kits & Consumables
o Software & Bioinformatics Solutions
o Services

• Technology Outlook (Revenue, USD Million; 2022-2032)
o Sequencing Platforms
o Exome Capture Methods

• Application Outlook (Revenue, USD Million; 2022-2032)
o Clinical Diagnostics
o Drug Discovery & Development
o Population Genomics & Translational Research
o Agrigenomics / Veterinary Research

• End-Use Outlook (Revenue, USD Million; 2022-2032)
o Hospitals & Clinical Diagnostic Laboratories
o Academic & Research Institutes
o Pharmaceutical & Biotechnology Companies
o Contract Research Organizations (CROs)
o Government & Public Health Programs

• Regional Outlook (Revenue, USD Million; 2022-2032)
o North America
a. U.S.
b. Canada
c. Mexico

o Europe
a. Germany
b. France
c. U.K.
d. Italy
e. Spain
f. Benelux
g. Nordic Countries
h. Rest of Europe

o Asia Pacific
a. China
b. India
c. Japan
d. South Korea
e. Oceania
f. ASEAN Countries
g. Rest of APAC

o Latin America
a. Brazil
b. Rest of LATAM

o Middle East & Africa
a. GCC Countries
b. South Africa
c. Israel
d. Turkey
e. Rest of MEA

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