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Global Orphan Diseases Testing Market: Overview

Development of molecular biology has transformed the diagnosis and treatment of diseases. Modern test methods, which are based on the detection of DNA and RNA, offer several advantages over traditional methods in the detection of diseases. The new procedures can detect viruses, bacteria, and genetic variations more accurately and rapidly. The continuous innovation in technology is useful to personalize health care and offer better treatment plans to patients. Genetic sequencing provides various types of technologies for the diagnosis of genetic disorders, some of the prominent technologies being RT-PCR, microarray sequencing, and next-generation sequencing.

Availability of a wide range of molecular biology technologies for the diagnosis of diseases presents several choices depending on the cost of the test, capability of the testing method, and other parameters. These techniques are used for the diagnosis and testing of orphan diseases, also known as rare diseases. According to the criteria employed in the U.S., orphan diseases are rare diseases that affect less than 200,000 individuals in a population. According to the criteria applied in Europe, orphan diseases are rare diseases that affect less than five individuals among 10,000 people. At present, almost 5% of the world’s population is living with orphan diseases. According to various surveys, it is estimated that almost 75% of orphan diseases affect children and 30% of these patients die before attaining the age of five years. 80% of the orphan diseases are genetic in nature. Some of the orphan diseases are life-threatening. Approximately 700 orphan or rare diseases have been identified. Examples of orphan diseases include cystic fibrosis, Lou Gehrig's disease, and Tourette's syndrome. The diagnosis is generally carried out by genetic screening.

Global Orphan Diseases Testing Market: Drivers and Restraints

Increasing technological advancements in genomics for the diagnosis and treatment of rare diseases and availability of patient-specific therapies for these diseases are estimated to fuel the global orphan diseases testing market during the forecast period. Moreover, increase in genetic screening for the diagnosis of hereditary disorders is likely to augment the Orphan Diseases Testing Market from 2017 to 2025. Emergence of new detection technologies in the genomics has enhanced the diagnosis of orphan diseases. Manufacturers are focusing on development of techniques such as PCR, imaging, and microarrays with greater depth of interaction (DoI). The need for new detection technologies in the testing of orphan diseases is due to ineffective methods of screening, which often give false-positive and false-negative results. Therefore, there is a need in achieving effective screening of the disease, which can be filled with innovative approaches that are more effective than the choices available currently.

Global Orphan Diseases Testing Market: Key Segments

The global orphan diseases testing market can be segmented based on disease type, technology type, end-user, and region. Based on disease type, the Orphan Diseases Testing Market has been divided into cystic fibrosis, Lou Gehrig's disease, and Tourette's syndrome. Based on technology, the global orphan diseases testing market can be segmented into NGS platforms, RT-PCR, microarrays, and genetic analyzers. Next-generation sequencing is a DNA-sequencing technology, by which an entire human genome can be sequenced within a single day. Bioinformatics tools are used for analysis of the entire gene sequence for precise changes in a DNA sequence and hence, these tools are used in testing of orphan diseases. Based on end–user, the global orphan diseases testing market has been segmented into academic & research institutes, diagnostic centers, and others. Increasing R&D in the health care sector, which utilizes gene sequencing for the testing of orphan diseases, is expected to drive the orphan diseases testing market during the forecast period.

Based on region, the global orphan diseases testing market can be segmented into North America, Europe, Asia Pacific, Latin America, and Middle East & Africa. North America dominated the global orphan diseases testing market in 2016. Dominance of the region is attributable to the presence of key players and rising research and development activities in the region. Rising awareness about orphan diseases and their testing in Asia Pacific is projected to fuel the orphan diseases testing market during the forecast period.

Global Orphan Diseases Testing Market: Key Players

Key players operating in the global orphan diseases testing market include Illumina, Inc., Thermo Fisher Scientific, Inc., and Bio-Rad Laboratories, Inc.

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Orphan Diseases Testing Market

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