CNSeq

Test Code
SLS165532
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What is CNSeq?

CNSeq is an advanced alternative for chromosomal microarray analysis. This revolutionary solution, utilizing NGS technology, provides superior accuracy in detecting Copy Number Variants compared to traditional cytogenetic methods. CNSeq offers the following features:

  • Detects CNVs and aneuploidies across the genome with a resolution of 500Kb for both gains and losses.
  • Offers Uniform CNV calling capability.
  • Capable of detecting low-level mosaicism
CNSeq

What Abnormalities Does CNSeq Detect?

  • All aneuploidies (abnormal number of chromosomes).
  • Copy Number Variants (CNVs).
  • Structural Variants.

Who is CNSeq For?

  • Diagnosis of Developmental Delays: CNSeq can identify chromosomal abnormalities and CNVs that are often the underlying cause of intellectual disability and developmental delays in children.
  • Identification of Congenital Anomalies: For children born with birth defects or congenital anomalies, CNSeq provides a comprehensive analysis to pinpoint genetic causes that may not be detected by traditional methods.
  • Investigation of Undiagnosed Conditions: When a child presents with symptoms suggestive of a genetic disorder but remains undiagnosed,
  • CNSeq can offer a higher resolution view of the genome to find potential answers.
  • Evaluation of Suspected Chromosomal Abnormalities: If a child is suspected of having a chromosomal abnormality based on clinical presentation, CNSeq provides an accurate and sensitive method for confirmation.
  • Early Detection for Targeted Intervention: Early diagnosis through CNSeq allows for timely intervention and management, potentially improving outcomes for children with genetic disorders.

To detect all 24 chromosome aneuploidies in prenatal, miscarriage and postnatal cases.

Can identify chromosomal gains (duplication) and losses (deletions) ≥50 Kb in size across the genome.

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