Global Rare Disease Genetic Testing Market is valued approximately USD 0.9186 Billion in 2020 and is anticipated to grow with a healthy growth rate of more than 10.9% over the forecast period 2021-2027. Rare Disease Genetic Testing is a test which presents the range of all the genes which are currently known to cause human disease. There are about 6000 genes which reported to be clinically relevant. These genes contains a select set of genes or gene region which are suspected to have relationship with certain diseases. This lead to a rise in the number of already present genes and as a result it further increased the market growth opportunity for this sector as it allows to collect sufficient amount of data which enables to continue clinical research for future discoveries. These diseases possess a threat to the mankind and needs to be diagnosed timely and accurately. This proves to be a driving factor for the market. The lack of awareness to these conditions is a primary challenge for the market. The Misdiagnosis of the diseases can result in interventions which could later be considered inappropriate for the underlying disorder. Therefore there is an urgent need to raise awareness about the aspects of these diseases like the challenges concerning with regard to diagnosis and clinical implementation of available diagnostic ways. Along with all the above stated factors technological advancements in collection of data and interpretation for clinical practice has also driven the market. Various efforts have been made by the market players in order to collect data from different ethnicities.

The regional analysis of global Rare Disease Genetic Testing Market is considered for the key regions such as Asia Pacific, North America, Europe, Latin America and Rest of the World. North America is the leader in Genetic Testing Market with an overall share of 47% of the total market in 2019.There will be a surge in the number of patients in the coming years this will further allow the market to grow. On the other hand, Asia Pacific is expected to grow more significantly in the coming years due to the increased awareness and rising populations in the Asian countries.

Major market player included in this report are:
Quest Diagnostics Inc.
Centogene N.V.
Invitae Corporation
3billion, Inc.
Arup Laboratories
Eurofins Scientific
Strand Life Sciences
Ambry Genetics
Perkin Elmer, Inc.
Macrogen, Inc.

The objective of the study is to define market sizes of different segments & countries in recent years and to forecast the values to the coming eight years. The report is designed to incorporate both qualitative and quantitative aspects of the industry within each of the regions and countries involved in the study. Furthermore, the report also caters the detailed information about the crucial aspects such as driving factors & challenges which will define the future growth of the market. Additionally, the report shall also incorporate available opportunities in micro markets for stakeholders to invest along with the detailed analysis of competitive landscape and product offerings of key players. The detailed segments and sub-segment of the market are explained below:
By Type:Neurological Disorders
Immunological Disorders
Hematology Diseases
Endocrine & Metabolism Diseases
Cancer
Musculoskeletal Disorders
Cardiovascular Disorders
Dermatology Diseases
Other Rare Diseases
By Technology:Next Generation Sequencing
Array Technology
PCR - based Testing
FISH
Sanger Sequencing
Karyotyping
By Specialty:Molecular Genetic Tests
Chromosomal Genetic Tests
Biochemical Genetic Tests
By End-use:Research Laboratories & CROs
Hospitals & Clinics
Diagnostic Laboratories

By Region:
North America
o U.S.
o Canada
Europe
o UK
o Germany
o France
o Spain
o Italy
o ROE

Asia Pacific
o China
o India
o Japan
o Australia
o South Korea
o RoAPAC
Latin America
o Brazil
o Mexico
Rest of the World

Furthermore, years considered for the study are as follows:

Historical year 2018, 2019
Base year 2020
Forecast period 2021 to 2027

Target Audience of the Global Rare Disease Genetic Testing Market in Market Study:

Key Consulting Companies & Advisors
Large, medium-sized, and small enterprises
Venture capitalists
Value-Added Resellers (VARs)
Third-party knowledge providers
Investment bankers
Investors