CNSeq HD

Test Code
SLS165533
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What is CNSeq HD?

While CNSeq is an NGS-based advanced alternative for chromosomal microarray analysis, CNSeq HD offers even higher resolution, precision, and sensitivity for the detection of structural variations in chromosomes. With unbiased Copy Number Variation (CNV) calling acoss the genome, it empowers clinicians with the ability to explore genomic insights in detail.
CNSeq HD

Why should this test be opted for?

  • Increased resolution: CNSeqHD offers a higher resolution than standard chromosomal analysis, allowing for the detection of smaller and more subtle genomic changes
  • Enhanced precision: The increased precision of cnseqhd improves the accuracy of detecting and characterizing structural variations
  • Comprehensive insights: It provides a more detailed and comprehensive view of the genome, enabling clinicians to gain a deeper understanding of complex genetic conditions
  • Unbiased CNV calling: It provides consistent and reliable results across the entire genome
  • Improved diagnostic accuracy: The enhanced resolution and precision can lead to improved diagnostic accuracy, especially in cases with complex or unclear genetic findings
  • Complex cases: It is very useful for cases where standard CNSeq has returned inconclusive results, or when a very high resolution is required
  • Research: It is very useful in research settings, where a very high resolution is required

Who is CNSeq HD for?

  • Precise diagnosis of complex developmental disorders: CNSeqHD’s high resolution is crucial for identifying subtle genomic changes that often underlie complex developmental delays, intellectual disabilities, and autism spectrum disorders in children.
  • Early detection of microdeletions/microduplications: CNSeqHD can detect small, clinically significant microdeletions and microduplications which may be missed by standard analyses in cases with unexplained congenital anomalies or dysmorphic features.
  • Resolution of inconclusive findings: When standard CNSeqHD or other chromosomal analyses yield unclear or inconclusive results, CNSeqHD provides a more detailed examination to resolve diagnostic dilemmas in pediatric patients.
  • Targeted management and intervention: accurate and detailed diagnoses obtained through CNSeqHD allow for targeted management, early intervention, and personalized care plans for children with genetic conditions, potentially improving long-term outcomes.
  • Identification of underlying causes in undiagnosed syndromes: for children with undiagnosed syndromes or complex phenotypes, CNSeqHD can uncover previously undetected structural variations, leading to a definitive diagnosis and facilitating appropriate family counseling.
Methodology: Low Pass Whole Genome Sequencing, NGS

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