Global Mendelian disorders testing Market Size, Share, Forecast Report, 2020-2027

Genetic testing involves the use of laboratory methods to study the genes inherited from mother or father. These tests may be used to identify increased risks of health problems, to diagnose the mutations in the genes, to choose treatments, or to assess responses to treatment.

Mendelian disorders also known as monogenic diseases arise due to the modifications in a single gene occurring in all cells of the body. Currently, it is estimated that over 10,000 of human diseases are known to be monogenic. These disorders are responsible for a heavy loss of life. The global prevalence of monogenic diseases at birth is approximately 10 in every 1000 infants.

The Mendelian disorders are caused by a single mutated gene which can be present on single or both chromosomes. Both females and males are equally affected by this disorder. Sickle cell anemia, Cystic fibrosis, Tay-Sachs disease, SCID, Gaucher's disease, Huntington's disease, neurofibromatosis, thalassemia, polycystic kidney disorder, and familial hypercholesterolemia are some of the common monogenic disorders. Nowadays, there are several tests performed to treat monogenic disorders such as diagnostic testing, carrier testing, predictive & pre-symptomatic testing, prenatal testing and new-born screening.

The carrier testing is a type of genetic testing that is used to determine a carrier person for monogenic disorders. Having said that, more and more genetic tests are being developed for a lot of other genetic disorders. Oncology segment has been the major focus area of the companies developing these tests as the large pool of population is affected by this fatal disease. The continuous rise in the prevalence of the genetic disorders has boosted the growth of the genetic testing market.
Segmentation

The global Mendelian disorders testing market is segmented on the basis of test type, disorder type, and end-user.

On the basis of the test type, the global Mendelian disorders testing market is segmented into carrier testing, diagnostic testing, new-born screening, predictive & pre-symptomatic testing, prenatal testing, and others

On the basis of the disorder type, the global mendelian disorders testing market is segmented into cystic fibrosis, sickle cell anemia, severe combined immunodeficiency (SCID), Tay-Sachs disorder, polycystic kidney disorder, Gaucher's disease, Huntington's disease, neurofibromatosis, thalassemia, familial hypercholesterolemia, and others

On the basis of the end user, the global mendelian disorders testing market is segmented into hospitals, ambulatory surgical centers (ASCs), and specialized clinics.

Key Players

The existing players are strengthening their foothold in the industry by introducing technologically advanced products. Regulatory bodies such as the US FDA and the European CE mark, although stringent, are approving equipment that fulfills all clinical data requirement and other safety criteria.

Some of key the players in the global mendelian disorders testing market are Celera Group (U.S.), Abbott Laboratories (U.S.), ELITechGroup (France), Quest Diagnostics (U.S.), AutoGenomics (U.S.), PerkinElmer Inc. (U.S.), Roche Diagnostics (Switzerland), Bio-Rad Laboratories, Inc. (U.S.), Applied Biosystems Inc. (U.S.), Transgenomic Inc. (U.S.), and others.