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Related Concept Videos

Genetic Screens02:46

Genetic Screens

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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
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Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

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Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
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Related Experiment Video

Updated: Sep 10, 2025

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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Genetic Testing in the Neonate.

Alissa M D'Gama1, Pankaj B Agrawal2

  • 1Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, 300 Longwood Avenue, Enders 961, Boston, MA 02115, USA. Electronic address: https://twitter.com/alissadgama.

Clinics in Perinatology
|August 24, 2025
PubMed
Summary
This summary is machine-generated.

Rapid genomic sequencing is increasingly vital for neonates with unexplained conditions, potentially improving neonatal care and outcomes. This genetic testing approach aids in diagnosing complex cases, guiding treatment for newborns.

Keywords:
Chromosomal microarrayExome sequencingGenetic diagnosisGenetic testingGenome sequencingNeonatal diagnosticsNeonatal genomics

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Area of Science:

  • Genetics
  • Neonatal Medicine
  • Genomic Sequencing

Background:

  • Genetic testing, including rapid genomic sequencing, is becoming more prevalent in neonatal care.
  • Its application holds significant potential for improving neonatal outcomes.
  • Specific neonatal conditions warrant genetic evaluation.

Purpose of the Study:

  • To highlight the growing role and impact of genetic testing in neonatal care.
  • To guide the appropriate use of genetic testing for neonates with specific clinical presentations.
  • To emphasize the importance of collaboration in the genetic testing process.

Main Methods:

  • Review of current practices and advancements in neonatal genetic testing.
  • Discussion of clinical indications for genetic testing in neonates.
  • Emphasis on broad genetic testing approaches like exome or genome sequencing when specific diagnoses are not evident.

Main Results:

  • Genetic testing is indicated for neonates with unexplained dysmorphic features, congenital anomalies, organ system dysfunction, or severe clinical presentation.
  • Rapid exome or genome sequencing is recommended for broader genetic evaluation in the absence of a clear single-gene or chromosomal disorder.
  • Awareness of genetic testing advancements is crucial for neonatal providers.

Conclusions:

  • Genetic testing, particularly rapid genomic sequencing, offers significant potential to impact neonatal care and outcomes.
  • Neonatal providers must be informed about these advances and collaborate with specialists.
  • Appropriate genetic testing strategies are essential for diagnosing and managing complex neonatal cases.