According to Mendel’s Laws, the monogenetic disorders are inherited because of a single defective gene on the autosomes. The monogenic disorders are caused by single mutated gene which can be present on single or both chromosomes. Females and males are equally affected by this disorder due to the conditions on the autosomes. Some of the tests are available for the mainstream of the common monogenic disorders such as Cystic fibrosis, sickle cell anemia, SCID, Tay-sachs disease, polycystic kidney disorder, Gaucher’s disease, Huntington’s disease, neurofibromatosis, thalassaemia and familial hypercholesterolemia. There are several test performed to treat with the monogenic disorders such as diagnostic testing, carrier testing, predictive & pre-symptomatic testing, prenatal testing and new-born screening. The Carrier testing consists a type of genetic testing that is used to determine a carrier person for monogenic disorders. Predictive testing which is also known as pre-symptomatic testing is performed to detect the gene associated mutations with disorders that appear after birth and often later in life. Prenatal testing is performed during the pregnancy to detect the problems that could affect the child. New born screening testing is performed by a simple blood test to detect the certain conditions that can eventually cause problems.
The increasing investment by the hospital facilities and government for better healthcare is expected to drive the market. The monogenetic disorders testing market is classified by test type, disorder type and end user. The global monogenic disorder testing market is segmented by test type including carrier testing, diagnostic testing, new-born screening, predictive & pre-symptomatic testing and prenatal testing. In terms of disorder the global monogenetic 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, thalassaemia and familial hypercholesterolemia. By end user, the global monogenetic disorders testing market is classified into hospitals, specialized clinics and ambulatory surgical centers. Hospitals are expected to gain the maximum value share over the forecast period.
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Some of the key players across the value chain of global monogenetic disorders testing market are Celera Group, Abbott, ELITechGroup, Quest Diagnostics, AutoGenomics, PerkinElmer Inc., Roche Diagnostics, Bio-Rad Laboratories, Inc., Applied Biosystems Inc., and Transgenomic Inc.