High-throughput sequencing for newborn screening
Sequencing selected genes or whole genomes from newborn blood spots to find rare genetic disorders that biochemical tests miss — in pilot and observational studies of thousands to 100,000 newborns since 2016.
1 · What it gives
High-throughput sequencing in newborn screening applies next-generation sequencing to several loci or whole genomes to identify risk of rare genetic disorders. It aims to supplement or improve traditional biochemical and tandem-mass-spectrometry screening, especially for disorders without biochemical markers. It is at pilot and observational stage: cohorts range from thousands to 100,000 newborns since 2016, including Chinese studies of 11,484 and 3,423 newborns and a China Neonatal Genomes Project aiming at 100,000 participants.
2 · What it replaces 6
3 · How to implement 3 steps
- 1Collect dried blood spotsCollect dried blood spots from newborns.
- 2Extract and sequenceExtract DNA, prepare libraries and run high-throughput sequencing.
- 3Analyse variantsRun bioinformatics analysis and variant calling, then report results.
4 · Who delivers
Matched suppliers (matched automatically)
| FastBio | Brazil | Producer | active |
| GenScript ProBio / Genscript | China | Research / RTO | active |
| Kura Biotech | Chile | Producer | active |
| Orvion | Netherlands | Research / RTO | active |
| Agricultural Research Council (ARC) | South Africa | Research / RTO | active |
| CIMV | France | Producer | active |
| Chitosan~YudaCentury | China | Research / RTO | active |
| Ecosystem Technologies International, Inc. | Philippines | Not classified | renamed |
| King-prebiotics (NFBC) | Taiwan | Producer | active |
| MGI (BGI Group) | China | Producer | active |
| Marshall Marine Products | India | Producer | active |
| National Agricultural Extension and Research Liaison Services (NAERLS), Ahmadu Bello University | Nigeria | Research / RTO | active |
Leading companies and institutes (from the brief)
GeneDx (the GUARDIAN study) and Chinese hospitals including Beijing Children’s Hospital and the Children’s Hospital of Fudan University are named as delivering this technology. Others are matched by the portal under Diagnostics.
5 · Rules & route to market
expert examination up to 70 working days plus registration steps
Information, not legal advice — confirm the procedure for your product. (2026-10-06)
United States
Bodies named in the sources include the US Secretary of Health and Human Services’ Advisory Committee on Heritable Disorders in Newborns and Children and the Global Alliance for Genomics and Health’s Paediatric Task Team; no binding clearance route is named.
European Union
The sources reviewed on 2026-10-16 identified no the EU regulator or standard specific to this technology. Treat the route as case-by-case and ask for a check.
China
The sources reviewed on 2026-10-16 identified no China regulator or standard specific to this technology. Treat the route as case-by-case and ask for a check.
6 · Money: tenders & grants
7 · Tech stack & innovations
Main risks from the sources: high cost, hard variant interpretation including variants of uncertain significance, ethical concerns, and the need for substantial infrastructure and bioinformatics expertise.
Sources 5
- Pmc.ncbi.nlm.nih.gov — pmc.ncbi.nlm.nih.gov 2026-10-16
- Pm.amegroups.org — pm.amegroups.org 2026-10-16
- Pmc.ncbi.nlm.nih.gov — pmc.ncbi.nlm.nih.gov 2026-10-16
- Pmc.ncbi.nlm.nih.gov — pmc.ncbi.nlm.nih.gov 2026-10-16
- Ccmu.edu.cn — www.ccmu.edu.cn 2026-10-16