Making cell-free DNA testing accessible to all healthcare providers
Analysis of numerical and structural chromosome abnormalities

Analysis of numerical and structural chromosome abnormalities

Testing for numerical and structural abnormalities of 23 pairs of chromosomes on 4,503 genes to precisely determine the cause of fetal abnormalities

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Diagnostic rate

15%

of cases with abnormal fetal ultrasound or genetic disease after birth are detected (*)

95.2%

Sensitivity

99.9%

Specificity

(*) Gross, A.M., Ajay, S.S., Rajan, V. et al. Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease. Genet Med 21, 1121-1130 (2019).

What is the CNVSure test?

CNVsure (or CNVseq—Copy Number Variation sequencing) identifies the aneuploidy of 23 pairs of chromosomes, including all microdeletions and microrepetitions larger than 400kb.

CNVseq detects chromosomal abnormalities by separating DNA from numerous samples (blood, tissue, amniotic fluid, placenta, and so on). The DNA is sequenced using next-generation sequencing (NGS) technology and analyzed by specialized software to identify genetic abnormalities.

What is the CNVSure test?

Testing candidates

  • Newborns or sick patients with symptoms of mental retardation, motor retardation, multiple malformations and multiple organ damage.
  • Prenatal diagnostic testing when the fetus has ultrasound-detected structural abnormalities or when the result of congenital malformation screening tests (biochemistry/NIPT) is positive/high-risk.
  • Premarital genetic disease screening and newborn screening for families with a history of genetic disease.

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