CNVSURE - Analysis of numerical and structural chromosome abnormalities

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.

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.

Diagnostic rate

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

• Sensitivity: 95.2%; specificity: 99.9%

(*) 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).


Supporting documents for CNVSure

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