Global Rare Disease Genetic Testing Market Report 2022: Ongoing Conferences to Raise Awareness About Rare and Ultra-Rare Conditions to Boost Growth –

DUBLIN–(BUSINESS WIRE)–The “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, 2022-2030” report has been added to’s offering.

The global rare disease genetic testing market size is expected to reach USD 2.52 billion by 2030, registering a CAGR of 13.94% over the forecast period, according to this report. Effective regulatory plans to combat rare disease is one of the key drivers of the industry. Furthermore, the presence of a substantial number of registries that provide data and relevant information about related diseases has aided in revenue growth over the past years.

Ongoing conferences to raise awareness about rare and ultra-rare conditions are anticipated to boost the adoption of diagnostic kits and services. For instance, Ergomed and PSR Orphan Experts, with their offices in the U.K., Germany, the Netherlands, Poland, and other countries, participate in various activities that are aimed at raising awareness in this area.

Moreover, the Canadian Organization for Rare Disorders (CORD) offers a strong platform to streamline health policy and a healthcare system that is dedicated to the management of patients with disorders. The agency works with clinicians, researchers, governments, and the diagnostic industry to advance R&D, diagnosis, treatment, and service availability for all rare conditions in the country. As per the National Institutes of Health (NIH), around 30 million Americans have been identified with one of 7,000+ known rare diseases. The number of patients undergoing disease testing is expected to increase in the coming years with growing awareness. The U.S. celebrates Rare Disease Day and promotes developments in this area by raising awareness.

In addition, the presence of the Rare Diseases Clinical Research Network (RDCRN), an NIH-funded research network of 23 active consortia or research groups that includes patients, researchers, and clinicians who are focused on the diagnosis & treatment of disorders is anticipated to positively impact the industry.

Around 50% of the children with learning disabilities and approximately 60% of children with congenital conditions do not receive a definitive diagnosis to identify the cause of their disabilities. Furthermore, the lack of awareness among patients and families about diagnosis and genetic testing has further impeded the industry’s growth.

North America dominated the industry in 2021 due to the high incidence of rare diseases, a large number of registries, the presence of substantial numbers of R&D facilities in this area, and extensive investments in diagnosis. Asia Pacific is expected to register the fastest CAGR during the forecast years owing to the presence of a substantial number of organizations that are focusing on disease management.

Rare Disease Genetic Testing Market Report Highlights

The immunological disorders segment held a significant revue share in 2021. A rise in the cases of multiple sclerosis drives the growth as is one of the key focus areas in this segment

Based on technology, the NGS segment is expected to register the fastest CAGR from 2022 to 2030

This is due to the availability & adoption of NGS-based gene panels for cancer, neurologic disease, CVD, pediatric conditions, psychiatric disorders, and another rare disease testing

The molecular genetic tests specialty segment held the largest revenue share in 2021 due to the high adoption in research & clinical settings. A rise in CLIA-waived molecular genetic tests also offers lucrative growth opportunities

The research laboratories & CROs end-user segment led the industry in 2021 owing to a large number of genetic tests conducted in research laboratories and CROs

Market Dynamics

Market Drivers

Expanding Patient Registry for Rare Disease

Declining Sequencing Cost & Technological Advancements in Disease Diagnosis

Launch of Programs & New Product Development in Rare Disease Diagnosis

Market Restraints

Absence of Effective Diagnosis Framework

Technical Challenges Associated With Genetic Tests & Data Management

Market Opportunities

Government & Regulatory Support for Rare Disease Diagnosis

Market Challenges

Limited Awareness About the Rare Disease Conditions

Key Topics Covered:

Chapter 1 Research Methodology

Chapter 2 Executive Summary

Chapter 3 Market Variables, Trends, & Scope

Chapter 4 Industry Outlook

Chapter 5 Disease Type Business Analysis

Chapter 6 Technology Business Analysis

Chapter 7 Speciality Business Analysis

Chapter 8 End-Use Business Analysis

Chapter 9 Regional Business Analysis

Chapter 10 Company Profiles

Companies Mentioned

Centogene N.V.

Invitae Corporation

Billion, Inc.

Arup Laboratories

Eurofins Scientific

Eurofins Genoma Group

Strand Life Sciences

Quest Diagnostics Incorporated

Blueprint Genetics

Perkinelmer Genomics

Realm Idx, Inc.

Ambry Genetics

Psomagen Inc.

Baylor Genetics

Color Genomics, Inc.

Health Network Laboratories

Prevention Genetics

Progenity, Inc.

Coopersurgical, Inc.

Fulgent Genetics Inc,

Myriad Genetics, Inc.

Counsyl, Inc.

Laboratory Corporation of America Holdings

Opko Health, Inc.


Artemis DNA

For more information about this report visit


Laura Wood, Senior Press Manager

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