Severe Combined Immunodeficiency (SCID) Diagnosis Market – Global Industry Size, Share, Trends Segmented By Disease Type (X-linked SCID, ADA-SCID, others), By Test Type (TREC, Complete blood count (CBC), Genetic Test, Biochemical Test, others), By End User (Hospitals, Diagnostic and Research Laboratories, Others), By Region & Competition, 2021-2031F

Forecast Period	2027-2031
Market Size (2025)	USD 189.98 Million
CAGR (2026-2031)	9.29%
Fastest Growing Segment	Hospitals
Largest Market	North America
Market Size (2031)	USD 323.74 Million

Market Overview

The Global Severe Combined Immunodeficiency (SCID) Diagnosis Market will grow from USD 189.98 Million in 2025 to USD 323.74 Million by 2031 at a 9.29% CAGR. The Global Severe Combined Immunodeficiency (SCID) Diagnosis Market encompasses the detection of this critical primary immunodeficiency through technologies such as T-cell receptor excision circle (TREC) assays, flow cytometry, and next-generation genetic sequencing. The market is primarily supported by the global expansion of government-mandated newborn screening programs and the rising adoption of advanced genomic tools that enable earlier intervention. According to the International Union of Immunological Societies, in its 2024 phenotypic classification update published in 2025, the expert committee officially characterized 559 distinct inborn errors of immunity, a development that significantly refines diagnostic algorithms and precision for complex cases including SCID.

Despite these advancements, a significant challenge impeding market expansion is the disparity in diagnostic infrastructure between developed and developing nations. High costs associated with confirmatory molecular testing and a shortage of specialized immunologists in resource-limited settings create substantial barriers to widespread implementation. This inequity leads to delayed detection in underserved regions, preventing the timely administration of life-saving therapies and limiting the overall potential of the global diagnosis market.

Key Market Drivers

Global expansion of mandatory newborn screening programs primarily drives the SCID diagnosis market by shifting detection from symptomatic to pre-symptomatic identification. Agencies are integrating T-cell receptor excision circle (TREC) assays into neonatal panels, necessitating diagnostic consumables and confirmatory infrastructure. This ensures infants are identified immediately, a critical window for successful transplantation. According to the UK National Screening Committee, March 2025, in the 'Final data analysis under way to inform SCID screening recommendation', well over 1 million babies have been screened for SCID since the launch of the NHS in-service evaluation. Furthermore, these programs clarify prevalence; according to Frontiers, in 2025, expanded screening in Ukraine determined a SCID incidence of 1 in 57,000 live births, validating universal testing protocols.

The emergence of novel gene therapies concurrently drives the market by elevating the value of precise molecular characterization. As regulatory bodies approve gene-specific interventions for ADA-SCID or X-linked SCID, clinicians must utilize next-generation sequencing to identify the exact genetic mutation. This prevents generalized treatments for patients benefiting from mutation-targeted biologicals, fueling demand for comprehensive genetic panels. Highlighting the pace of therapeutic innovation, according to the Innovative Genomics Institute, July 2025, in the 'CRISPR Clinical Trials: A 2025 Update', researchers developed and delivered a bespoke in vivo CRISPR therapy in just six months, illustrating the accelerating timeline for personalized medicine relying on accurate diagnosis.

Download Free Sample Report

Key Market Challenges

The significant disparity in diagnostic infrastructure and economic resources between developed and developing nations stands as a formidable barrier impeding the growth of the Global SCID Diagnosis Market. While high-income regions increasingly adopt advanced genomic tools, a vast majority of the global market remains inaccessible due to the prohibitive costs of establishing molecular testing facilities and a critical shortage of specialized immunologists in resource-limited settings. This inequality prevents the widespread implementation of mass screening programs, meaning that diagnostic manufacturers are unable to penetrate populous emerging markets. Consequently, the volume of testing kits and sequencing assays utilized globally is severely capped, resulting in a substantial loss of potential revenue for the industry.

According to the International Patient Organisation for Primary Immunodeficiencies (IPOPI), in collaborative findings published in 2024, only 42 countries worldwide had implemented SCID newborn screening at a national, regional, or pilot level as of mid-year. This statistic underscores the magnitude of the market restriction, as it indicates that the overwhelming majority of nations lack the necessary frameworks to systematically detect this condition, thereby directly limiting the addressable customer base for diagnostic companies.

Key Market Trends

Widespread adoption of multiplex assays for concurrent SCID and SMA screening is fundamentally reshaping laboratory workflows by consolidating detection into a single efficient reaction. Laboratories are increasingly shifting from single-target tests to multiplex real-time PCR assays that simultaneously screen for T-cell Receptor Excision Circles (TREC) and Survival Motor Neuron 1 (SMN1), significantly enhancing cost-effectiveness and reducing turnaround times. This integration is being validated by large-scale public health evaluations designed to prove the feasibility of dual-target protocols without disrupting existing newborn screening throughput. According to SMA UK, August 2025, in the 'Newborn Screening for SMA' update, the national in-service evaluation successfully recruited 32,274 participants to assess the clinical efficacy of identifying spinal muscular atrophy alongside severe immunodeficiencies using this integrated screening infrastructure.

The demand for precision genotyping driven by gene-specific therapies is accelerating the integration of advanced genomic sequencing early in the diagnostic pathway. As curative interventions like gene editing become available, obtaining an exact molecular genotype is now critical for determining patient eligibility and directing appropriate treatment strategies rather than relying solely on phenotypic data. This requirement is driving national-level initiatives to utilize whole genome sequencing for detecting rare conditions, including SCID, to ensure no genetic cause is missed. According to Genomics England, October 2025, in the '25,000 babies join groundbreaking Generation Study' announcement, the program has enrolled 25,000 newborns to evaluate the utility of whole genome sequencing in identifying over 200 rare genetic conditions, thereby establishing a new standard for precision diagnosis.

Segmental Insights

The Hospitals segment is identified as the fastest growing category in the Global Severe Combined Immunodeficiency Diagnosis Market. This expansion is primarily driven by the widespread integration of newborn screening programs into standard postnatal care protocols. Public health guidelines increasingly mandate early testing for immune system defects, compelling medical facilities to adopt reliable diagnostic tools directly on-site to ensure compliance. Furthermore, because confirmed cases require urgent and complex medical interventions such as stem cell transplantation, hospitals remain the essential point of care for managing this condition immediately following detection.

Regional Insights

North America maintains a leading position in the Severe Combined Immunodeficiency diagnosis market due to the widespread adoption of newborn screening programs. The region benefits significantly from government mandates, such as the inclusion of the condition in the Recommended Uniform Screening Panel in the United States. This policy ensures that infants are routinely tested, directly driving the demand for diagnostic assays. Additionally, the region possesses a well-established healthcare infrastructure that supports early disease detection and management. Collaboration between research institutions and diagnostic providers further strengthens the market sector, ensuring consistent availability of testing services.

Recent Developments

• In February 2025, Bio-Rad Laboratories, Inc. announced that it had entered into a binding offer to acquire Stilla Technologies, a pioneer in digital polymerase chain reaction (dPCR) solutions. This acquisition was intended to expand Bio-Rad's portfolio in the molecular diagnostics space by incorporating Stilla’s high-sensitivity Crystal Digital PCR technology. The addition of this platform was expected to enhance the development and performance of genetic tests, including those used for the quantification of T-cell receptor excision circles (TRECs), a critical marker in the diagnosis of severe combined immunodeficiency. The move positioned Bio-Rad to better address the growing demand for precise molecular screening tools.
• In November 2024, ImmunoIVD AB and Thermo Fisher Scientific highlighted their strategic collaboration to enhance newborn screening capabilities for primary immunodeficiencies. The companies showcased the effectiveness of combining ImmunoIVD’s specialized assays, such as the SPOT-it Screening Kit, with Thermo Fisher Scientific’s advanced quantitative polymerase chain reaction (qPCR) instrumentation. This partnership focused on improving the accuracy and efficiency of screening for severe combined immunodeficiency (SCID) and spinal muscular atrophy (SMA) in laboratories. The initiative aimed to demonstrate how streamlined workflows and reliable technology could support early diagnosis and better health outcomes for affected infants globally.
• In April 2024, Revvity, Inc. announced a collaboration with RTI International for the "Early Check" research study, which provides voluntary health tests for newborns in North Carolina. Under this agreement, the company was selected to conduct genome sequencing to screen for hundreds of childhood-onset rare genetic conditions, extending beyond standard panels to include disorders such as severe combined immunodeficiency. The study utilized a sample-to-answer next-generation sequencing (NGS) workflow powered by the AVITI System from Element Biosciences, aiming to generate critical data on the feasibility of integrating genomic sequencing into routine newborn screening programs.
• In January 2024, Revvity, Inc. joined the Screen4Care project as a consortium partner to advance the diagnosis of rare diseases, including severe combined immunodeficiency. This collaborative initiative, funded by the Innovative Medicines Initiative (IMI), aims to accelerate the identification of rare conditions by utilizing genetic newborn screening and digital technologies such as artificial intelligence. Revvity contributed its expertise in genomics and diagnostic solutions to the project, focusing on shortening the diagnostic odyssey for patients. The partnership underscored the company's commitment to expanding the reach of early detection methods within the global severe combined immunodeficiency diagnosis market.

Key Market Players

• ARCHIMED SAS
• PerkinElmer LAS Inc
• Health Research, Inc
• Winfertility Inc.
• Portea Medical
• LaCAR MDX Technologies
• Labsystems Diagnostics Oy
• Devyser Diagnostics
• Revcovi
• Leadiant Biosciences Inc.

By Disease Type	By Test Type	By End User	By Region
X-linked SCID ADA-SCID others	TREC Complete blood count (CBC) Genetic Test Biochemical Test others	Hospitals Diagnostic and Research Laboratories Others	North America Europe Asia Pacific South America Middle East & Africa

Report Scope:

In this report, the Global Severe Combined Immunodeficiency (SCID) Diagnosis Market has been segmented into the following categories, in addition to the industry trends which have also been detailed below:

• Severe Combined Immunodeficiency (SCID) Diagnosis Market, By Disease Type:

• X-linked SCID
• ADA-SCID
• others

• Severe Combined Immunodeficiency (SCID) Diagnosis Market, By Test Type:

• TREC
• Complete blood count (CBC)
• Genetic Test
• Biochemical Test
• others

• Severe Combined Immunodeficiency (SCID) Diagnosis Market, By End User:

• Hospitals
• Diagnostic and Research Laboratories
• Others

• Severe Combined Immunodeficiency (SCID) Diagnosis Market, By Region:

• North America
• United States
• Canada
• Mexico
• Europe
• France
• United Kingdom
• Italy
• Germany
• Spain
• Asia Pacific
• China
• India
• Japan
• Australia
• South Korea
• South America
• Brazil
• Argentina
• Colombia
• Middle East & Africa
• South Africa
• Saudi Arabia
• UAE