Rare Disease Genetic Testing Market Size, Share & Trends Report

Rare Disease Genetic Testing Market Size, Share & Trends Analysis Report By Disease Type (Neurological, CVDs), By Specialty (Molecular, Biochemical), By Technology (NGS, PCR-based), By End Use, And Segment Forecasts, 2023 - 2030

  • Report ID: GVR-4-68038-695-0
  • Number of Report Pages: 150
  • Format: PDF, Horizon Databook
  • Historical Range: 2019 - 2021
  • Forecast Period: 2023 - 2030 
  • Industry: Healthcare

Research Methodology

A three-pronged approach was followed for deducing the rare disease genetic testing market estimates and forecasts. The process has three steps: information procurement, analysis, and validation. The whole process is cyclical, and steps repeat until the estimates are validated. The three steps are explained in detail below:

Information procurement: Information procurement is one of the most extensive and important stages in our research process, and quality data is critical for accurate analysis. We followed a multi-channel data collection process for rare disease genetic testing market to gather the most reliable and current information possible.

  • We buy access to paid databases such as Hoover’s and Factiva for company financials, industry information, white papers, industry journals, SME journals, and more.
  • We tap into Grand View’s proprietary database of data points and insights from active and archived monitoring and reporting.
  • We conduct primary research with industry experts through questionnaires and one-on-one phone interviews.
  • We pull from reliable secondary sources such as white papers and government statistics, published by organizations like WHO, NGOs, World Bank, etc., Key Opinion Leaders (KoL) publications, company filings, investor documents, and more.
  • We purchase and review investor analyst reports, broker reports, academic commentary, government quotes, and wealth management publications for insightful third-party perspectives.

Analysis: We mine the data collected to establish baselines for forecasting, identify trends and opportunities, gain insight into consumer demographics and drivers, and so much more. We utilized different methods of rare disease genetic testing market data depending on the type of information we’re trying to uncover in our research.

  • Market Research Efforts: Bottom-up Approach for estimating and forecasting demand size and opportunity, top-down Approach for new product forecasting and penetration, and combined approach of both Bottom-up and Top-down for full coverage analysis.

  • Value-Chain-Based Sizing & Forecasting: Supply-side estimates for understanding potential revenue through competitive benchmarking, forecasting, and penetration modeling.

  • Demand-side estimates for identifying parent and ancillary markets, segment modeling, and heuristic forecasting.

  • Qualitative Functional Deployment (QFD) Modelling for market share assessment.

Market formulation and validation: We mine the data collected to establish baselines for forecasting, identify trends and opportunities, gain insight into consumer demographics and drivers, and so much more. We utilize different methods of data analysis depending on the type of information we’re trying to uncover in our research.

  • Market Formulation: This step involves the finalization of market numbers. This step on an internal level is designed to manage outputs from the Data Analysis step.

  • Data Normalization: The final market estimates and forecasts are then aligned and sent to industry experts, in-panel quality control managers for validation.

  • This step also entails the finalization of the report scope and data representation pattern.

  • Validation: The process entails multiple levels of validation. All these steps run in parallel, and the study is forwarded for publishing only if all three levels render validated results.

Rare Disease Genetic Testing Market Categorization:

The rare disease genetic testing market was categorized into five segments, namely disease type (Neurological Disease, Immunological Disorders, Hematology Diseases, Endocrine & Metabolism Diseases, Cancer, Musculoskeletal Disorders, Cardiovascular Disorders, Dermatology Disease), technology (Next-Generation Sequencing, Array Technology, PCR-based Testing, FISH, Sanger Sequencing, Karyotyping), specialty (Molecular Genetic Tests, Chromosomal Genetic Tests, Biochemical Genetic Tests), end-use (Research Laboratories & CROs, Hospitals & Clinics, Diagnostic Laboratories), and regions (North America, Europe, Asia Pacific, Latin America, Middle East & Africa).

Segment Market Methodology:

The rare disease genetic testing market was segmented into disease type, technology, specialty, end-use, and regions. The demand at a segment level was deduced using a funnel method. Concepts like the TAM, SAM, SOM, etc., were put into practice to understand the demand. We at GVR deploy three methods to deduce market estimates and determine forecasts. These methods are explained below:

Market research approaches: Bottom-up

  • Demand estimation of each product across countries/regions summed up to from the total market.

  • Variable analysis for demand forecast.

  • Demand estimation via analyzing paid database, and company financials either via annual reports or paid database.

  • Primary interviews for data revalidation and insight collection.

Market research approaches: Top-down

  • Used extensively for new product forecasting or analyzing penetration levels.

  • Tool used invoice product flow and penetration models Use of regression multi-variant analysis for forecasting Involves extensive use of paid and public databases.

  • Primary interviews and vendor-based primary research for variable impact analysis.

Market research approaches: Combined

  • This is the most common method. We apply concepts from both the top-down and bottom-up approaches to arrive at a viable conclusion.

Regional Market Methodology:

The rare disease genetic testing market was analyzed at a regional level. The globe was divided into North America, Europe, Asia Pacific, Latin America, and Middle East & Africa, keeping in focus variables like consumption patterns, export-import regulations, consumer expectations, etc. These regions were further divided into twenty-five countries, namely, the U.S.; Canada; Germany; the UK.; Spain; France; Italy; The Netherlands; Japan; China; India; South Korea; Singapore; Australia; Southeast Asia; Brazil; and South Africa.

All three above-mentioned market research methodologies were applied to arrive at regional-level conclusions. The regions were then summed up to form the global market.

Rare disease genetic testing market companies & financials:

The rare disease genetic testing market was analyzed via companies operating in the sector. Analyzing these companies and cross-referencing them to the demand equation helped us validate our assumptions and conclusions. Key market players analyzed include:

  • QUEST DIAGNOSTICS INCORPORATED - Quest Diagnostics Incorporated is a medical diagnostics firm that is publicly traded and offers a range of clinical testing services, including gene-based & esoteric testing, routine testing, and drugs-of-abuse testing. Its array of services encompasses anatomic pathology & related services, risk assessment services for life insurance companies, and central laboratory testing for clinical trials. The company provides its diagnostic information services under the Quest Diagnostics brand, which includes Dermpath Diagnostics, Focus Diagnostics, AmeriPath, Athena Diagnostics, Summit Health, Solstas, and ExamOne. These services are offered to physicians, patients, hospitals, and organizations via a network of phlebotomists in physician offices, patient service centers, laboratories, and other facilities. It provides solutions and tests for a variety of diseases such as diabetes, endocrinology, gastroenterology, general health, genetics, hepatitis C, HIV, infectious diseases, irritable bowel syndrome, neurology, pediatrics, prescription drug monitoring, rheumatoid arthritis, skin disease, toxicology, and women's health. The company has a presence in several countries including Mexico, India, Ireland, and the UK. Its partners comprise numerous international diagnostic laboratories, hospitals, and clinics.


  • CENTOGENE N.V. - A privately held corporation, CENTOGENE N.V. is involved in the development of solutions for genetic testing. The firm also specializes in rare diseases and envisioned transforming biochemical, clinical, and genetic data into medical solutions for patients. A full spectrum of technology and contemporary approaches for human genetic analysis is offered by the company. In addition to the diagnostic service, pharmaceutical services for genetic disorders including neurodegenerative disorders, malformations, cardiac disorders, and metabolic disorders are offered by the company.


  • INVITAE CORPORATION - A genetic information company, Inviate Corporation implements genetic data into mainstream medical applications. Software tools, laboratory processes, and informatics capabilities are used by the business to process DNA-containing samples. Various diagnostic tests such as reproductive health, proactive health, and genetic conditions are


  • 3BILLION, INC. - 3billion is an AI-based medical diagnostic service provider. A genetic rare disease diagnosis service was launched by the company in February 2019. This service was launched by the company in collaboration with Macrogen and promote its entry into the market. Services to CAP-accredited and CLIA-certified laboratories are offered by the company. NSG-based clinical diagnostic testing is facilitated by these services. The company performs data analysis and delivers advanced bioinformatics& AI-aided interpretation system-based clinical diagnosis reports, post NGS processing of a patient’s sample.


  • ARUP LABORATORIES   - ARUP Laboratories is a nonprofit enterprise that specializes in anatomical and clinical laboratory services, functioning under the aegis of the University of Utah. It provides a range of products and services in areas such as anatomic pathology, genetics, pain management, pediatrics, infectious diseases, oncology, immunology, and immunohematology. Additionally, it offers educational services that encompass web-based training, educational events, speakers, webinars, lectures, and other onsite offerings. The laboratory provides a platform that expedites pharmaceutical research and aids clinical trials. A diverse clientele including clinics, military & other government facilities, commercial laboratories, universities, and hospitals are catered by ARUP Laboratories.


  • EUROFINS SCIENTIFIC -  Eurofins Scientific is a firm that offers examination services to the environmental, food, and pharmaceutical sectors. The organization also delivers Contract Research Organization (CRO) services in the field of agroscience and is a prominent entity for certain laboratory and testing services for discovery pharmacology, forensics, genomics, advanced material sciences, and backing clinical studies. Furthermore, it is a rising entity in the field of specialty clinical diagnostic testing services in the U.S. and Europe. The firm functions with more than 800 laboratories dispersed across 47 nations. The firm possesses a robust portfolio of over 200,000 analytical methods that assess the composition, identity, safety, authenticity, purity, and origin of biological products & substances. These methods are also applicable in cutting-edge clinical diagnostics. In June 2017, the firm procured a specialty diagnostics company named Genoma Laboratory Group.


  • STRAND LIFE SCIENCES  - Strand Life Sciences was founded as a subsidiary of the Indian Institute of Science. In 2014, Strand initiated a clinical diagnostics venture in India. At present, the company has inaugurated a specialized diagnostic firm in partnership with Triesta Sciences to expedite the upcoming generation of the precision medicine domain. Its laboratory in HCG’s Center of Excellence and Strand Center for Genomics and Personalized Medicine in Bangalore has received CAP accreditation. The company provides diagnostic services in the fields of genetics, wellness, fertility, women’s health, infectious disease, and oncology. It is also a member of the Global Diagnostics Network, a strategic collaboration of major diagnostics laboratories, initiated by Quest Diagnostics to enhance understanding of the diagnostics domain and improve service provision.


  • AMBRY GENETICS - Ambry Genetics is a privately held firm that provides genetic testing solutions for both inherited and non-inherited diseases. It provides clinical diagnostic tests in the areas of cancer, cardiology, clinical genomics, general genetics, neurology, and women’s health. It provides gene sequence analysis for cystic fibrosis and offers customizable sequencing, genotyping, and microarray services. The company also provides clinical resources that aid in the continuous education of clinicians and the dissemination of data to foster scientific discoveries to enhance patient outcomes and care. It caters to physicians, patients, and genetic counselors.


  • BAYLOR GENETICS - Baylor Genetics is a collaborative endeavor of Baylor College of Medicine and Miraca Holdings, Inc., set up to provide genetic tests and solutions that have clinical relevance. It offers close to 4,000 types of tests. The capabilities of its laboratory encompass whole exome sequencing, cytogenetics, molecular diagnostics, biochemical services, oncology testing, chromosomal microarray analysis, prenatal diagnostics, and interpretation services. The company has conducted over 4 million clinical tests. The company has its operations in 16 countries and 50 states. Further, in addition to genetic tests, it also provides genetic counseling services.


  • PREVENTIONGENETICS - PreventionGenetics is a laboratory specializing in clinical DNA testing. It provides tests based on CNV and sequencing for all genes of clinical significance. The range of tests it offers includes its WES test and PGxome. Additionally, the company provides a service for DNA banking, known as PGDNABank, which allows for the long-term preservation of a person's DNA. This DNA banking service is directly available to consumers. It provides testing panels that cover a variety of disease areas such as the genetics of cancer, disorders of the cardiovascular system, endocrinology, gastrointestinal, hematology, immunology, metabolic, neurologic, pulmonology, and disorders of connective tissue & skin. It is a clinical laboratory accredited by ISO 15189:2012 and CLIA.

Value chain-based sizing & forecasting

Supply Side Estimates

  • Company revenue estimation via referring to annual reports, investor presentations, and Hoover’s.

  • Segment revenue determination via variable analysis and penetration modeling.

  • Competitive benchmarking to identify market leaders and their collective revenue shares.

  • Forecasting via analyzing commercialization rates, pipelines, market initiatives, distribution networks, etc.

Demand side estimates

  • Identifying parent markets and ancillary markets

  • Segment penetration analysis to obtain pertinent

  • revenue/volume

  • Heuristic forecasting with the help of subject matter experts

  • Forecasting via variable analysis

Rare Disease Genetic Testing Market Report Objectives:

  • Understanding market dynamics (in terms of drivers, restraints, & opportunities) in the countries.

  • Understanding trends & variables in the individual countries & their impact on growth and using analytical tools to provide high-level insights into the market dynamics and the associated growth pattern.

  • Understanding market estimates and forecasts (with the base year as 2022, historic information from 2019 to 2021, and forecast from 2023 to 2030). Regional estimates & forecasts for each category are available and are summed up to form the global market estimates.

Rare Disease Genetic Testing Market Report Assumptions:

  • The report provides market value for the base year 2022 and a yearly forecast till 2030 in terms of revenue/volume or both. The market for each of the segment outlooks has been provided on region & country basis for the above-mentioned forecast period.

  • The key industry dynamics, major technological trends, and application markets are evaluated to understand their impact on the demand for the forecast period. The growth rates were estimated using correlation, regression, and time-series analysis.

  • We have used the bottom-up approach for market sizing, analyzing key regional markets, dynamics, & trends for various products and end-users. The total market has been estimated by integrating the country markets.

  • All market estimates and forecasts have been validated through primary interviews with the key industry participants.

  • Inflation has not been accounted for to estimate and forecast the market.

  • Numbers may not add up due to rounding off.

  • Europe consists of EU-8, Central & Eastern Europe, along with the Commonwealth of Independent States (CIS).

  • Asia Pacific includes South Asia, East Asia, Southeast Asia, and Oceania (Australia & New Zealand).

  • Latin America includes Central American countries and the South American continent

  • Middle East includes Western Asia (as assigned by the UN Statistics Division) and the African continent.

Primary Research

GVR strives to procure the latest and unique information for reports directly from industry experts, which gives it a competitive edge. Quality is of utmost importance to us, therefore every year we focus on increasing our experts’ panel. Primary interviews are one of the critical steps in identifying recent market trends and scenarios. This process enables us to justify and validate our market estimates and forecasts to our clients. With more than 8,000 reports in our database, we have connected with some key opinion leaders across various domains, including healthcare, technology, consumer goods, and the chemical sector. Our process starts with identifying the right platform for a particular type of report, i.e., emails, LinkedIn, seminars, or telephonic conversation, as every report is unique and requires a differentiated approach.

We send out questionnaires to different experts from various regions/ countries, which is dependent on the following factors:

  • Report/Market scope: If the market study is global, we send questionnaires to industry experts across various regions, including North America, Europe, Asia Pacific, Latin America, and MEA.

  • Market Penetration: If the market is driven by technological advancements, population density, disease prevalence, or other factors, we identify experts and send out questionnaires based on region or country dominance.

The time to start receiving responses from industry experts varies based on how niche or well-penetrated the market is. Our reports include a detailed chapter on the KoL opinion section, which helps our clients understand the perspective of experts already in the market space.

What questions do you have? Get quick response from our industry experts. Request a Free Consultation



This FREE sample includes market data points, ranging from trend analyses to market estimates & forecasts. See for yourself.



We can customize every report - free of charge - including purchasing stand-alone sections or country-level reports, as well as offer affordable discounts for start-ups & universities.

Contact us now to get our best pricing.

esomar icon

ESOMAR certified & member


ISO Certified

We are GDPR and CCPA compliant! Your transaction & personal information is safe and secure. For more details, please read our privacy policy.

great place to work icon