Rare Disease Diagnostics Market by Test Type (Genetic Testing, Biochemical Testing, Imaging Diagnostics), Disease Type (Neurological Disorders, Metabolic Disorders), Technology (Sequencing Technologies, PCR-based Technologies), Sample Type, and End User -

Rare Disease Diagnostics Market by Test Type (Genetic Testing, Biochemical Testing, Imaging Diagnostics), Disease Type (Neurological Disorders, Metabolic Disorders), Technology (Sequencing Technologies, PCR-based Technologies), Sample Type, and End User—Global Forecast to 2035

According to the research report titled, 'Rare Disease Diagnostics Market by Test Type (Genetic Testing, Biochemical Testing, Imaging Diagnostics), Disease Type (Neurological Disorders, Metabolic Disorders), Technology (Sequencing Technologies, PCR-based Technologies), Sample Type, and End User—Global Forecast to 2035,' the rare disease diagnostics market is projected to reach $8.13 billion by 2035, at a CAGR of 17.0% during the forecast period 2025–2035. The report provides an in-depth analysis of the global rare disease diagnostics market across five major regions, emphasizing the current market trends, market sizes, recent developments, and forecasts till 2035.

Following extensive secondary and primary research and an in-depth analysis of the market scenario, the report conducts the impact analysis of the key industry drivers, restraints, opportunities, and challenges. The growth of this market is driven by increasing awareness and early diagnosis initiatives for rare diseases, growing government support and funding for rare disease research and diagnosis, advancements in genomic technologies enabling better rare disease identification, rising prevalence of rare genetic disorders globally, and increasing adoption of next-generation sequencing in clinical settings. Moreover, integration of genomic sequencing into newborn screening programs, artificial intelligence and machine learning implementation in rare disease diagnosis, expanding focus on precision medicine and personalized treatment approaches, and dramatic cost reductions in DNA sequencing technologies are expected to support the market's growth.

The key players operating in the rare disease diagnostics market are Illumina, Inc. (U.S.), Thermo Fisher Scientific Inc. (U.S.), F. Hoffmann-La Roche Ltd (Switzerland), QIAGEN N.V. (Netherlands), PerkinElmer, Inc. (U.S.), Bio-Rad Laboratories, Inc. (U.S.), Agilent Technologies, Inc. (U.S.), CENTOGENE N.V. (Germany), GeneDx, LLC (U.S.), Invitae Corporation (U.S.), Blueprint Genetics (Finland/U.S.), Eurofins Scientific (Luxembourg), Fulgent Genetics, Inc. (U.S.), OPKO Health, Inc. (U.S.), Strand Life Sciences Pvt. Ltd. (India), and others.

The rare disease diagnostics market is segmented by test type (genetic testing, biochemical testing, imaging diagnostics, and other diagnostic tests), disease type (neurological disorders, metabolic disorders, hematological disorders, immunological disorders, endocrine disorders, cardiovascular disorders, and other rare diseases), technology (sequencing technologies, PCR-based technologies, microarray technologies, mass spectrometry, immunoassays, and other technologies), sample type (blood samples, urine samples, saliva samples, tissue samples, amniotic fluid, and other sample types), end user (diagnostic laboratories, hospital laboratories, academic & research institutes, pharmaceutical & biotechnology companies, and other end users), and geography. The study also evaluates industry competitors and analyzes the market at the country level.

Based on test type, the genetic testing segment is projected to account for the largest market share of 81.0% in 2025. The dominance of this segment is primarily attributed to the genetic etiology of approximately 80% of rare diseases, dramatic cost reductions in DNA sequencing technologies over the past two decades (declining from approximately $3 billion per genome in 2003 to under $1,000 currently), expanding clinical adoption of comprehensive genomic testing approaches, and growing insurance coverage for genetic diagnostic procedures. The evolution from single-gene sequential testing to comprehensive genomic analysis has fundamentally transformed rare disease diagnostic paradigms, enabling simultaneous evaluation of thousands of genes and improving diagnostic yields substantially. The genetic testing segment is also expected to register the highest CAGR of 18.3% during the forecast period, driven by continuous technological improvements in sequencing platforms delivering enhanced accuracy and throughput, increasing physician comfort with ordering comprehensive genetic tests, expanding evidence base demonstrating clinical utility and cost-effectiveness, and rising insurer acceptance based on demonstrated diagnostic value.

Based on disease type, the neurological disorders segment is expected to account for the largest share of 32% of the rare disease diagnostics market in 2025. This segment's leadership is attributed to neurological rare diseases frequently having a strong genetic basis, disorders such as epilepsy syndromes, neuromuscular disorders, leukodystrophies, and mitochondrial disorders having highly heterogeneous presentations making advanced diagnostics essential, and high diagnostic odyssey rates leading clinicians to rely more heavily on specialized genomic and metabolic testing. Financial institutions are leveraging diagnostic technologies to improve patient outcomes through early detection and personalized treatment strategies. This segment is also projected to register the highest CAGR of 20% during the forecast period, driven by accelerating adoption of next-generation sequencing, exome sequencing, and targeted gene panels for neurological conditions, expanding understanding of genetic contributions to neurological rare diseases, and growing demand for molecular diagnosis to guide treatment decisions.

Based on technology, the sequencing technologies segment is projected to account for the largest market share of 58% in 2025. This growth is driven by the capability for comprehensive genetic analysis enabling simultaneous evaluation of thousands of genes, dramatic cost reductions making sequencing economically feasible for clinical applications, detection of virtually all variant types including single nucleotide variants, insertions/deletions, and structural variants, and expanding clinical evidence demonstrating diagnostic utility and cost-effectiveness. Sequencing technologies offer comprehensive coverage, superior sensitivity for rare variants, and ability to identify novel disease genes, making them attractive to organizations seeking accurate molecular diagnosis. The transformation from research tool to routine clinical diagnostic has fundamentally altered rare disease diagnostic paradigms. The sequencing technologies segment is also expected to register the highest CAGR during the forecast period, driven by continuous technological improvements in sequencing platforms, accumulating clinical evidence supporting broader adoption, expanding insurance coverage and reimbursement policies, and integration of artificial intelligence and machine learning enhancing variant interpretation and diagnostic efficiency.

Based on sample type, the blood samples segment is expected to account for the largest share of the rare disease diagnostics market in 2025. This dominance is primarily driven by blood samples' versatility supporting the broadest range of diagnostic testing approaches including genetic testing from DNA extracted from leukocytes, biochemical testing from plasma or serum, hematological testing from whole blood, and immunological testing from various blood components. Blood samples benefit from well-established infrastructure for blood collection existing in healthcare facilities from tertiary medical centers to primary care clinics, standardized protocols for handling and processing, and the fact that blood contains or reflects information about virtually all organ systems making it suitable for diagnosing diverse systemic diseases. The blood samples segment is also projected to register the highest CAGR during the forecast period due to expanding applications of blood-based genetic testing for rare diseases, growing adoption of dried blood spot sampling enabling convenient sample collection and shipping, and technological advances enabling extraction of more diagnostic information from smaller blood volumes.

Based on end user, the diagnostic laboratories segment is expected to account for the largest share of 52% of the rare disease diagnostics market in 2025. This leadership is attributed to diagnostic laboratories' role as specialized reference facilities concentrating rare disease testing expertise that individual hospitals cannot economically maintain, achievement of economies of scale through sample aggregation from multiple healthcare systems enabling efficient high-volume testing, substantial investments in advanced technologies including latest-generation sequencing platforms, mass spectrometry systems, and bioinformatics infrastructure, and employment of specialized personnel including medical geneticists, genetic counselors, and metabolic specialists. Large diagnostic laboratories have implemented comprehensive test menus covering diverse rare disease categories and established expertise in complex variant interpretation essential for rare disease diagnosis. The diagnostic laboratories segment is also expected to register the highest CAGR during the forecast period, driven by increasing test referrals from hospitals and clinics seeking specialized expertise, expanding test menus responding to clinical needs, and growing adoption of comprehensive genomic testing approaches requiring specialized laboratory capabilities.

An in-depth geographic analysis of the industry provides detailed qualitative and quantitative insights into the five major regions (North America, Europe, Asia-Pacific, Latin America, and the Middle East & Africa) and the coverage of major countries in each region. North America is projected to account for the largest market share of 46% in 2025. This dominance is attributed to the region's most developed rare disease testing infrastructure including leading genetic testing companies such as Illumina, Invitae, and GeneDx alongside advanced academic medical centers, comprehensive newborn screening programs testing approximately 3.8 million infants annually in the United States alone, expanding insurance coverage for genetic testing removing financial barriers to access, and substantial government research funding through the National Institutes of Health exceeding $5 billion annually for rare disease research. However, Asia-Pacific is expected to register the highest CAGR of 22.7% during the forecast period across the overall rare disease diagnostics market. This growth is fueled by rapid healthcare infrastructure development in major economies particularly China and India, rising middle-class populations with increasing healthcare purchasing power, government investments in genomics and precision medicine programs including China's Precision Medicine Initiative and India's genomics projects, expanding insurance coverage improving diagnostic access, and increasing awareness of genetic diseases and available testing among healthcare professionals and the general public. Large population bases create substantial absolute numbers of rare disease patients despite lower per-capita prevalence, driving diagnostic demand. The region's growing biotech and pharmaceutical sectors, increasing foreign direct investments in diagnostics companies, rising prevalence of consanguineous marriages in certain populations increasing rare recessive disease incidence, and improving regulatory frameworks supporting genetic testing adoption are creating a conducive environment for market growth. Additionally, the region's expanding academic medical centers with genetic testing capabilities, increasing participation in international rare disease research collaborations, and growing patient advocacy organizations raising awareness contribute to higher diagnostic technology adoption across various healthcare settings.

Key Questions Answered in the Report

What is the current revenue generated by the rare disease diagnostics market globally?
At what rate is the global rare disease diagnostics demand projected to grow for the next 7–10 years?
What are the historical market sizes and growth rates of the global rare disease diagnostics market?
What are the major factors impacting the growth of this market at the regional and country levels? What are the major opportunities for existing players and new entrants in the market?
Which segments in terms of test type, disease type, technology, sample type, and end user are expected to create major traction for the manufacturers in this market?
What are the key geographical trends in this market? Which regions/countries are expected to offer significant growth opportunities for the companies operating in the global rare disease diagnostics market?
Who are the major players in the global rare disease diagnostics market? What are their specific product offerings in this market?
What are the recent strategic developments in the global rare disease diagnostics market? What are the impacts of these strategic developments on the market?

Scope of the Report:


Rare Disease Diagnostics Market Assessment—by Test Type

Genetic Testing
Next-Generation Sequencing (NGS)
Whole Exome Sequencing (WES)
Whole Genome Sequencing (WGS)
Targeted Gene Panels
Chromosomal Microarray
Single-Gene Testing
Biochemical Testing
Enzyme Assays
Metabolite Analysis
Protein Analysis
Imaging Diagnostics
Other Diagnostic Tests

Rare Disease Diagnostics Market Assessment—by Disease Type

Neurological Disorders
Metabolic Disorders
Hematological Disorders
Immunological Disorders
Endocrine Disorders
Cardiovascular Disorders
Other Rare Diseases

Rare Disease Diagnostics Market Assessment—by Technology

Sequencing Technologies
PCR-based Technologies
Microarray Technologies
Mass Spectrometry
Immunoassays
Other Technologies

Rare Disease Diagnostics Market Assessment—by Sample Type

Blood Samples
Urine Samples
Saliva Samples
Tissue Samples
Amniotic Fluid
Other Sample Types

Rare Disease Diagnostics Market Assessment—by End User

Diagnostic Laboratories
Hospital Laboratories
Academic & Research Institutes
Pharmaceutical & Biotechnology Companies
Other End Users

Rare Disease Diagnostics Market Assessment—by Geography

North America
U.S.
Canada
Europe
U.K.
Germany
France
Spain
Italy
Rest of Europe
Asia-Pacific
China
India
Japan
South Korea
Australia & New Zealand
Southeast Asia
Rest of Asia-Pacific
Latin America
Mexico
Brazil
Argentina
Rest of Latin America
Middle East & Africa
Saudi Arabia
UAE
South Africa
Rest of Middle East & Africa

Rare Disease Diagnostics Market by Test Type (Genetic Testing, Biochemical Testing, Imaging Diagnostics), Disease Type (Neurological Disorders, Metabolic Disorders), Technology (Sequencing Technologies, PCR-based Technologies), Sample Type, and End User—Global Forecast to 2035


According to the research report titled, 'Rare Disease Diagnostics Market by Test Type (Genetic Testing, Biochemical Testing, Imaging Diagnostics), Disease Type (Neurological Disorders, Metabolic Disorders), Technology (Sequencing Technologies, PCR-based Technologies), Sample Type, and End User—Global Forecast to 2035,' the rare disease diagnostics market is projected to reach $8.13 billion by 2035, at a CAGR of 17.0% during the forecast period 2025–2035. The report provides an in-depth analysis of the global rare disease diagnostics market across five major regions, emphasizing the current market trends, market sizes, recent developments, and forecasts till 2035.

Following extensive secondary and primary research and an in-depth analysis of the market scenario, the report conducts the impact analysis of the key industry drivers, restraints, opportunities, and challenges. The growth of this market is driven by increasing awareness and early diagnosis initiatives for rare diseases, growing government support and funding for rare disease research and diagnosis, advancements in genomic technologies enabling better rare disease identification, rising prevalence of rare genetic disorders globally, and increasing adoption of next-generation sequencing in clinical settings. Moreover, integration of genomic sequencing into newborn screening programs, artificial intelligence and machine learning implementation in rare disease diagnosis, expanding focus on precision medicine and personalized treatment approaches, and dramatic cost reductions in DNA sequencing technologies are expected to support the market's growth.

The key players operating in the rare disease diagnostics market are Illumina, Inc. (U.S.), Thermo Fisher Scientific Inc. (U.S.), F. Hoffmann-La Roche Ltd (Switzerland), QIAGEN N.V. (Netherlands), PerkinElmer, Inc. (U.S.), Bio-Rad Laboratories, Inc. (U.S.), Agilent Technologies, Inc. (U.S.), CENTOGENE N.V. (Germany), GeneDx, LLC (U.S.), Invitae Corporation (U.S.), Blueprint Genetics (Finland/U.S.), Eurofins Scientific (Luxembourg), Fulgent Genetics, Inc. (U.S.), OPKO Health, Inc. (U.S.), Strand Life Sciences Pvt. Ltd. (India), and others.

The rare disease diagnostics market is segmented by test type (genetic testing, biochemical testing, imaging diagnostics, and other diagnostic tests), disease type (neurological disorders, metabolic disorders, hematological disorders, immunological disorders, endocrine disorders, cardiovascular disorders, and other rare diseases), technology (sequencing technologies, PCR-based technologies, microarray technologies, mass spectrometry, immunoassays, and other technologies), sample type (blood samples, urine samples, saliva samples, tissue samples, amniotic fluid, and other sample types), end user (diagnostic laboratories, hospital laboratories, academic & research institutes, pharmaceutical & biotechnology companies, and other end users), and geography. The study also evaluates industry competitors and analyzes the market at the country level.

Based on test type, the genetic testing segment is projected to account for the largest market share of 81.0% in 2025. The dominance of this segment is primarily attributed to the genetic etiology of approximately 80% of rare diseases, dramatic cost reductions in DNA sequencing technologies over the past two decades (declining from approximately $3 billion per genome in 2003 to under $1,000 currently), expanding clinical adoption of comprehensive genomic testing approaches, and growing insurance coverage for genetic diagnostic procedures. The evolution from single-gene sequential testing to comprehensive genomic analysis has fundamentally transformed rare disease diagnostic paradigms, enabling simultaneous evaluation of thousands of genes and improving diagnostic yields substantially. The genetic testing segment is also expected to register the highest CAGR of 18.3% during the forecast period, driven by continuous technological improvements in sequencing platforms delivering enhanced accuracy and throughput, increasing physician comfort with ordering comprehensive genetic tests, expanding evidence base demonstrating clinical utility and cost-effectiveness, and rising insurer acceptance based on demonstrated diagnostic value.

Based on disease type, the neurological disorders segment is expected to account for the largest share of 32% of the rare disease diagnostics market in 2025. This segment's leadership is attributed to neurological rare diseases frequently having a strong genetic basis, disorders such as epilepsy syndromes, neuromuscular disorders, leukodystrophies, and mitochondrial disorders having highly heterogeneous presentations making advanced diagnostics essential, and high diagnostic odyssey rates leading clinicians to rely more heavily on specialized genomic and metabolic testing. Financial institutions are leveraging diagnostic technologies to improve patient outcomes through early detection and personalized treatment strategies. This segment is also projected to register the highest CAGR of 20% during the forecast period, driven by accelerating adoption of next-generation sequencing, exome sequencing, and targeted gene panels for neurological conditions, expanding understanding of genetic contributions to neurological rare diseases, and growing demand for molecular diagnosis to guide treatment decisions.

Based on technology, the sequencing technologies segment is projected to account for the largest market share of 58% in 2025. This growth is driven by the capability for comprehensive genetic analysis enabling simultaneous evaluation of thousands of genes, dramatic cost reductions making sequencing economically feasible for clinical applications, detection of virtually all variant types including single nucleotide variants, insertions/deletions, and structural variants, and expanding clinical evidence demonstrating diagnostic utility and cost-effectiveness. Sequencing technologies offer comprehensive coverage, superior sensitivity for rare variants, and ability to identify novel disease genes, making them attractive to organizations seeking accurate molecular diagnosis. The transformation from research tool to routine clinical diagnostic has fundamentally altered rare disease diagnostic paradigms. The sequencing technologies segment is also expected to register the highest CAGR during the forecast period, driven by continuous technological improvements in sequencing platforms, accumulating clinical evidence supporting broader adoption, expanding insurance coverage and reimbursement policies, and integration of artificial intelligence and machine learning enhancing variant interpretation and diagnostic efficiency.

Based on sample type, the blood samples segment is expected to account for the largest share of the rare disease diagnostics market in 2025. This dominance is primarily driven by blood samples' versatility supporting the broadest range of diagnostic testing approaches including genetic testing from DNA extracted from leukocytes, biochemical testing from plasma or serum, hematological testing from whole blood, and immunological testing from various blood components. Blood samples benefit from well-established infrastructure for blood collection existing in healthcare facilities from tertiary medical centers to primary care clinics, standardized protocols for handling and processing, and the fact that blood contains or reflects information about virtually all organ systems making it suitable for diagnosing diverse systemic diseases. The blood samples segment is also projected to register the highest CAGR during the forecast period due to expanding applications of blood-based genetic testing for rare diseases, growing adoption of dried blood spot sampling enabling convenient sample collection and shipping, and technological advances enabling extraction of more diagnostic information from smaller blood volumes.

Based on end user, the diagnostic laboratories segment is expected to account for the largest share of 52% of the rare disease diagnostics market in 2025. This leadership is attributed to diagnostic laboratories' role as specialized reference facilities concentrating rare disease testing expertise that individual hospitals cannot economically maintain, achievement of economies of scale through sample aggregation from multiple healthcare systems enabling efficient high-volume testing, substantial investments in advanced technologies including latest-generation sequencing platforms, mass spectrometry systems, and bioinformatics infrastructure, and employment of specialized personnel including medical geneticists, genetic counselors, and metabolic specialists. Large diagnostic laboratories have implemented comprehensive test menus covering diverse rare disease categories and established expertise in complex variant interpretation essential for rare disease diagnosis. The diagnostic laboratories segment is also expected to register the highest CAGR during the forecast period, driven by increasing test referrals from hospitals and clinics seeking specialized expertise, expanding test menus responding to clinical needs, and growing adoption of comprehensive genomic testing approaches requiring specialized laboratory capabilities.

An in-depth geographic analysis of the industry provides detailed qualitative and quantitative insights into the five major regions (North America, Europe, Asia-Pacific, Latin America, and the Middle East & Africa) and the coverage of major countries in each region. North America is projected to account for the largest market share of 46% in 2025. This dominance is attributed to the region's most developed rare disease testing infrastructure including leading genetic testing companies such as Illumina, Invitae, and GeneDx alongside advanced academic medical centers, comprehensive newborn screening programs testing approximately 3.8 million infants annually in the United States alone, expanding insurance coverage for genetic testing removing financial barriers to access, and substantial government research funding through the National Institutes of Health exceeding $5 billion annually for rare disease research. However, Asia-Pacific is expected to register the highest CAGR of 22.7% during the forecast period across the overall rare disease diagnostics market. This growth is fueled by rapid healthcare infrastructure development in major economies particularly China and India, rising middle-class populations with increasing healthcare purchasing power, government investments in genomics and precision medicine programs including China's Precision Medicine Initiative and India's genomics projects, expanding insurance coverage improving diagnostic access, and increasing awareness of genetic diseases and available testing among healthcare professionals and the general public. Large population bases create substantial absolute numbers of rare disease patients despite lower per-capita prevalence, driving diagnostic demand. The region's growing biotech and pharmaceutical sectors, increasing foreign direct investments in diagnostics companies, rising prevalence of consanguineous marriages in certain populations increasing rare recessive disease incidence, and improving regulatory frameworks supporting genetic testing adoption are creating a conducive environment for market growth. Additionally, the region's expanding academic medical centers with genetic testing capabilities, increasing participation in international rare disease research collaborations, and growing patient advocacy organizations raising awareness contribute to higher diagnostic technology adoption across various healthcare settings.

Key Questions Answered in the Report

What is the current revenue generated by the rare disease diagnostics market globally?
At what rate is the global rare disease diagnostics demand projected to grow for the next 7–10 years?
What are the historical market sizes and growth rates of the global rare disease diagnostics market?
What are the major factors impacting the growth of this market at the regional and country levels? What are the major opportunities for existing players and new entrants in the market?
Which segments in terms of test type, disease type, technology, sample type, and end user are expected to create major traction for the manufacturers in this market?
What are the key geographical trends in this market? Which regions/countries are expected to offer significant growth opportunities for the companies operating in the global rare disease diagnostics market?
Who are the major players in the global rare disease diagnostics market? What are their specific product offerings in this market?
What are the recent strategic developments in the global rare disease diagnostics market? What are the impacts of these strategic developments on the market?

Scope of the Report:


Rare Disease Diagnostics Market Assessment—by Test Type

Genetic Testing
Next-Generation Sequencing (NGS)
Whole Exome Sequencing (WES)
Whole Genome Sequencing (WGS)
Targeted Gene Panels
Chromosomal Microarray
Single-Gene Testing
Biochemical Testing
Enzyme Assays
Metabolite Analysis
Protein Analysis
Imaging Diagnostics
Other Diagnostic Tests

Rare Disease Diagnostics Market Assessment—by Disease Type

Neurological Disorders
Metabolic Disorders
Hematological Disorders
Immunological Disorders
Endocrine Disorders
Cardiovascular Disorders
Other Rare Diseases

Rare Disease Diagnostics Market Assessment—by Technology

Sequencing Technologies
PCR-based Technologies
Microarray Technologies
Mass Spectrometry
Immunoassays
Other Technologies

Rare Disease Diagnostics Market Assessment—by Sample Type

Blood Samples
Urine Samples
Saliva Samples
Tissue Samples
Amniotic Fluid
Other Sample Types

Rare Disease Diagnostics Market Assessment—by End User

Diagnostic Laboratories
Hospital Laboratories
Academic & Research Institutes
Pharmaceutical & Biotechnology Companies
Other End Users

Rare Disease Diagnostics Market Assessment—by Geography

North America
U.S.
Canada
Europe
U.K.
Germany
France
Spain
Italy
Rest of Europe
Asia-Pacific
China
India
Japan
South Korea
Australia & New Zealand
Southeast Asia
Rest of Asia-Pacific
Latin America
Mexico
Brazil
Argentina
Rest of Latin America
Middle East & Africa
Saudi Arabia
UAE
South Africa
Rest of Middle East & Africa Show more