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Rare Disease Diagnostics Market

Rare Disease Diagnostics Market: Information by Product Type (Kits and Assays, Panels), End-User (Hospital, Laboratories), and Region — Forecast till 2030

The global rare disease diagnostics market was valued at USD 33.83 billion in 2021 and is projected to reach USD 71.2 billion by 2030, registering a CAGR of 8.62% from 2022 to 2030.  The purpose of this study was to investigate the effects that
Report Code: SRPH1935DR

Market Overview

The global rare disease diagnostics market was valued at USD 33.83 billion in 2021 and is projected to reach USD 71.2 billion by 2030, registering a CAGR of 8.62% from 2022 to 2030.

 The purpose of this study was to investigate the effects that uncommon diseases have on significant portions of the global population. There are over 7000 different rare diseases, and for many of these disorders, there is very little information accessible. This makes it difficult to diagnose and treat these conditions. Because of this, it is also difficult to discriminate between illnesses that appear to be clinically identical. Diseases that are considered rare are defined in a variety of ways depending on the nation. Inherited on a genetic level, difficult and pricey to diagnose, and offering few therapeutic choices, rare diseases are characterized by their extreme rarity. Since the technology was first made available for commercial use with whole-genome and exome sequencing, there has been a tremendous expansion in the field of rare illness diagnoses; nonetheless, it is essential to quantify this expansion and describe future trends. The industry of genetic testing is rapidly expanding, and analysts anticipate that this trend will further accelerate going forward. However, there are important challenges that, if not solved, may inhibit future growth.

Report Scope

Report Metric Details
Base Year 2021
Study Period 2020-2030
Forecast Period 2023-2031
CAGR 8.62%
Market Size 71.2
Fastest Growing Market Asia Pacific
Largest Market North America
Report Coverage Revenue Forecast, Competitive Landscape, Growth Factors, Environment & Regulatory Landscape and Trends
Geographies Covered
  • North America
  • Europe
  • APAC
  • Middle East and Africa
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Market Dynamics

Global Rare Disease Diagnostics Market Drivers

  • The unmet clinical needs

There are a number of important variables that are contributing to the expansion of the sequencing industry. These considerations include unmet clinical demands for improved tools to predict, diagnose, treat, and monitor disease. Patient demand, industry investment, legislation that allow the sale of tests without FDA approval, and better understanding of the molecular basis of diseases are some of the other factors that are fuelling the expansion.

Global Rare Disease Diagnostics Market Restraints

  • High costs compared to other technology

Even though the advanced sequencing business is expanding at a rapid rate, there are still a few important concerns that need to be resolved in order to support future expansion. The relatively high total costs of delivering sequencing test results in comparison to other technology platforms, as well as the restricted coverage that is provided by payers, are the primary obstacles that stand in the way of the expansion of this business. The sequencing of the whole genome and the exome continue to be relatively expensive because they call for an initial investment in technology, need specialized personnel, and take a significant amount of time to analyze variants.

Global Rare Disease Diagnostics Market Opportunity

  • Drop in the cost of genetic testing and medical insurance

It is anticipated that the price of genetic testing will become much more affordable as the cost of WES continues to fall. Make the test available to more people at a more reasonable price. In addition, the expansion of this sector has been helped along by medical insurance policies that are based on WES genetic testing. On the basis of the recommendations made by medical professionals, quite a few different private health insurance organizations will pay for all of the genetic testing costs or a portion of them.

Regional Analysis

The market is split into North America, Europe, Asia-Pacific, and LAMEA.

In 2019, North America held the highest market share, accounting for more than 47 percent of the total. The expansion of the market is driven by a number of factors, including the high prevalence of rare illnesses, the presence of a major number of research and development centres for rare and ultra-rare diseases, and extensive investments in the diagnosis of rare disorders in the region. According to the National Institutes of Health (NIH), around 30 million people in the United States have been diagnosed with one of the 7,000 or more uncommon diseases that are currently known. In addition, it is anticipated that in the next years, a higher percentage of patients would submit themselves to disease testing, which will contribute to the expansion of the market.

In the period from 2020 to 2027, it is anticipated that Asia Pacific would record the highest CAGR because to the increasing awareness of the target demographic in Asian countries. A concerted effort is being made in China's healthcare system to direct more focus toward the diagnosis and treatment of rare diseases. In its vision for 2030 named "Healthy China 2030," the government of the country has included the management of uncommon diseases as a priority public health initiative. In addition, the nation published its first list of uncommon ailments in June of 2018, making it possible for patients to identify viable treatment options at the hospitals in their own communities.

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Segmental Analysis

  • End-Use Information

In the year 2020, research laboratories and CROs held the largest market share, accounting for 48 percent of the total. This is mostly due to the fact that testing is often performed on blood samples acquired from patients and then sent to a laboratory for analysis. Analysis. The genetic testing services offered by the laboratory cover a wide range of sub-specialities, including chromosomal, molecular, and biochemical analysis.

For instance, the ARUP laboratory offers diagnostic services in the fields of cytogenetics, molecular genetics, genomic microarrays, and biochemical genetics. In addition, the laboratory offers genetic counselling services in an effort to hasten the process by which patients are provided with services. In addition, laboratory tests that are based on molecular genetic testing are experiencing significant expansion all over the world. Multiple laboratories, some of which are equipped with clinical cytogenetics, pathology, and chemistry, as well as other specialised laboratories that are CLIA-accredited, perform genetic testing. These businesses increase their testing portfolio through a variety of strategic initiatives of their own design.

Top Key Players of Rare Disease Diagnostics Market

  1. 23andMe Inc.
  2. 3billion Inc.
  3. Agilent Technologies Inc.
  4. Beijing Genomics Institute (BGI)
  6. Eurofins Scientific SE
  7. GENEWIZ Inc.
  8. Illumina Inc.
  9. In-Depth Genomics
  10. Invitae Corporation
  11. Laboratory Corporation of America Holdings
  12. OPKO Health
  13. PerkinElmer Inc.
  14. Quest Diagnostics Incorporated
  15. Travere Therapeutics Inc.

Recent Developments

In January 2020, The acquisition of Blueprint Genetics by Quest Diagnostics was done so that the company could expand its knowledge of genetic problems and rare diseases.

In February 2020, Dante Labs has introduced a new scheme that will charge individuals suffering from uncommon diseases a total of $299 for whole genome sequencing. This service provides a whole genome shotgun sequencing (WGS 30X) based on Novaseq6000 technology, data interpretation, and personalised treatment for certain disorders.

In June 2018, Centogene launched its diagnostic laboratory in Cambridge, Massachusetts.

Rare Disease Diagnostics Market Segmentations

Product Type

  • Kits and Assays
  • Panels

Sample Type

  • DNA Sample
  • Buccal Swab Sample
  • Blood
  • Saliva


  • Next-Generation Sequencing
  • Whole Genome Sequencing
  • Whole Exome Sequencing
  • Microarrays

Trait Type

  • Inherited
  • Acquired

Test Type

  • Genetic Test
  • General Lab Test
  • Imaging Test

Age Group

  • Children Age
  • Adult Age


  • Hospital Laboratories
  • Diagnostics Laboratories
  • Genetic Testing Laboratories
  • Cancer Research Laboratories
  • Cancer Research Institutes
  • Universities Research Laboratories

By Regions

  • North America
  • Europe
  • APAC
  • Middle East and Africa

Frequently Asked Questions (FAQs)

What is the estimated growth rate (CAGR) of the Rare Disease Diagnostics Market?
Rare Disease Diagnostics Market size will grow at approx. CAGR of 8.62% during the forecast period.
Some of the top prominent players in Rare Disease Diagnostics Market are, 23andMe Inc., 3billion Inc., Agilent Technologies Inc., Beijing Genomics Institute (BGI), CENTOGENE N.V., Eurofins Scientific SE, GENEWIZ Inc., Illumina Inc., In-Depth Genomics, Invitae Corporation, Laboratory Corporation of America Holdings, OPKO Health, PerkinElmer Inc., Quest Diagnostics Incorporated, Travere Therapeutics Inc., etc.
In the Rare Disease Diagnostics Market, North America has established itself as the market leader with a significant market share.
The Asia Pacific region is projected to exhibit the highest rate of growth in the Rare Disease Diagnostics Market.
The global Rare Disease Diagnostics Market report is segmented as follows: Product Type, Sample Type, Technology, Trait Type, Test Type, Age Group, End-User

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