GVR Report cover Carrier Screening Market Size, Share & Trends Report

Carrier Screening Market Size, Share & Trends Analysis Report By Type (Expanded Carrier Screening, Targeted Disease Carrier Screening), By Technology, By Application, By End-user, By Region, And Segment Forecasts, 2023 To 2030

  • Report ID: GVR453676
  • Number of Pages: 0
  • Format: Electronic (PDF)

Carrier screening is performed to diagnose a genetic disorder. It is a genetic test conducted on the patient to identify the gene responsible for a genetic disorder or abnormal chromosomal disorder. It is also performed on the pregnant woman to find out whether the child has the disorder. The test involves the blood, tissue cells of the cheeks, or saliva samples. The disorders like sickle cell anemia, Tay-Sachs disease, cystic fibrosis, fragile X syndrome, and SMA can be identified using these tests. The carrier inherits the abnormal gene from either of the parents.

Molecular tests are performed to detect the mutation by finding the abnormalities in the DNA. Techniques such as NGS are the tools to conduct carrier screening tests. The carrier may have no signs and symptoms of illness. The test is recommended for pregnant women to check whether the baby will have a chance of genetic deformities. It is also advised to the male parent of the child to undergo the carrier screening test. The early disease diagnosis and prevention of these genetic deformities fuel the market growth. For instance, in June 2019, QIAGEN launched an expanded carrier screening panel QIAseq. It is used to detect more than 200 diseases by providing information about the targets and genes.

The increasing application of genetic tests spurs the increase in funding by the government and private bodies which drives the market. Moreover, the screening tests are cost-effective which is one of the key drivers. The key players in the market have opted for various collaborations, mergers, and acquisitions leading to the development of the R&D sector. This enhances the molecular testing market. Increasing launch of novel tests for better diagnosis and treatment footholds the global market. The increasing prevalence of genetic as well as chronic diseases is a driving factor for the growth of the market globally.

The market is segmented based on type, technology, application, end-user, and region segment. The type segment is further divided into expanded carrier screening which contains customized panel testing, predesigned panel testing, and targeted disease carrier screening. The technology segment is divided into DNA sequencing, PCR, and microarrays. The end-user segment is divided into hospitals and clinics, reference laboratories, physicians' offices, and others. The region segment is divided into North America, Europe, Asia-Pacific, Latin America, the Middle East & Africa.

Based on the region, North America has captured the largest market share in 2021. This is due to the presence of a well-established healthcare system in this region. Moreover, the presence of the majority of key players in North America is an additional advantage for market growth. US and Canada have a developed and advanced R&D sector for NGS, carrier screening, and molecular testing. Due to this, there is more awareness among the population about chromosomal disorder and their prevention which boosts the market. North America also accounts for a higher number of neurological and hematological disorders which fuels the necessity for screening tests.




Expanded Carrier Screening,

Targeted Disease Carrier Screening


DNA Sequencing,

Polymerase Chain Reaction,



Hospitals and Clinics,

Reference Laboratories,

Physicians’ Offices,



North America (U.S., Canada)

Europe (Germany, France, Italy, Spain, UK)

Asia-Pacific (Japan, China, India, Australia, South Korea)

Latin America (Mexico, Brazil, Argentina)

Middle East And Africa (Saudi Arabia, South Africa, UAE)


Major companies operating in the carrier screening market include Fulgent Genetics, Illumina, Inc., Eurofins Scientific, OPKO Health, Invitae Corporation, Quest Diagnostics Thermo Fisher Scientific, Inc., Luminex Corporation, Myriad Genetics, Sema4, Abbott Laboratories, Danaher Corporation, F. Hoffmann La-Roche Ltd. among others.

gvr icn


gvr icn

This FREE sample includes market data points, ranging from trend analyses to market estimates & forecasts. See for yourself.

gvr icn


We can customize every report - free of charge - including purchasing stand-alone sections or country-level reports, as well as offer affordable discounts for start-ups & universities.

Contact us now to get our best pricing.

esomar icon

ESOMAR certified & member

D&B icon

Leading SME award by D&B

We are GDPR and CCPA compliant! Your transaction & personal information is safe and secure. For more details, please read our privacy policy.

great place to work icon