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Related Concept Videos

Next-generation Sequencing03:00

Next-generation Sequencing

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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
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DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
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One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
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Incorporating Next-Generation Sequencing in Newborn Screening for Organic Acidemias.

Yiming Lin1,2, Jinping Zhong1, Weilin Peng1,2

  • 1Department of Clinical Laboratory, Maternity and Children's Hospital, School of Medicine, Huaqiao University, Quanzhou 362021, China.

International Journal of Neonatal Screening
|March 27, 2026
PubMed
Summary

Next-generation sequencing (NGS) combined with MS/MS screening improves organic acidemia (OADs) diagnosis. This approach reduces false positives and identifies cases missed by traditional methods, enhancing newborn screening accuracy.

Keywords:
combined genetic screeningnewborn screeningnext generation sequencingorganic acidemias

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Area of Science:

  • Medical Genetics
  • Metabolic Disorders
  • Newborn Screening

Background:

  • Organic acidemias (OADs) are inherited metabolic disorders often exhibiting high false-positive rates in newborn screening.
  • Current screening methods like tandem mass spectrometry (MS/MS) can be limited in specificity.

Purpose of the Study:

  • To evaluate the clinical performance of next-generation sequencing (NGS) as a complementary genetic test for OADs.
  • To assess the impact of integrating NGS with MS/MS on diagnostic accuracy and efficiency.

Main Methods:

  • A cohort of 154,634 newborns underwent initial MS/MS screening.
  • 151 neonates with suspected OADs received combined genetic screening using a pre-designed NGS panel.
  • Analysis of positive genetic screening results and comparison with clinical diagnoses.

Main Results:

  • 17 out of 55 neonates with positive genetic screening were diagnosed with OADs (prevalence 1 in 9096).
  • NGS identified genotypes in 52.9% (9/17) of diagnosed cases and detected one case of methylmalonic acidemia missed by MS/MS.
  • Combined screening identified carriers and unaffected individuals, and also detected Wilson's disease cases.

Conclusions:

  • Integrating NGS with MS/MS significantly reduces false-positive rates in newborn screening for OADs.
  • This combined approach shortens the time to definitive diagnosis and improves overall screening accuracy.
  • The study presents a valuable model for enhancing the efficiency and precision of newborn genetic screening programs.