CNV-Seq
Clinical indications
Postnatal
Children or adults with unexplained disease symptoms (Peripheral blood DNA) PrenatalPrenatal
Miscarriage products of conceptions (chorionic villus DNA) Fetal ultrasound structural abnormalities (amniocyte DNA) High risk pregnancies (advanced maternal age, soft ultrasound marker)Technology
Wet lab
Patent PCR-free library construction technology Low input: 10-50ng DNA Detection of aneuploidy, large fragment deletion/duplication, whole genome CNVs (>100kb) chromosome mosaicism (>10%)Dry lab (Bioinformatics)
CNV analysis systemCase sharing – apoblema testing
Clinical information:
31 yrs, induced labor one time, a biochemical pregnancy, six times of embryo arrest. She did such test at 7+3 weeks, no fetal buds or fetal heart.Test results:
seq [hg19] dup(2)(q36.1q37.3) chr2:g. 224740001_243020000dup seq [hg19] del(8)(q24.23q24.3) chr8:g. 138800001_146300000del![](/repository/image/9a72a74a-b5f2-4ef6-9a0a-6fc052c1d571.jpg)
Why choose Berry Genomics for CNV-Seq
Low cost Integrated professional teams for sequencing, data analysis and reporting Fast turnaround time Reliable and accurate results equivalent to current array CGH and SNP arraysThe clinical significance of CNV-Seq
Can detect aneuploidy, CNVs (resolution 0.1Mb) and mosaicism (resolution) that are associated with known chromosome disease syndromes Applicable to genetic diagnosis of preconception, prenatal and postnatal samples Can identify a genetic cause of miscarriage samples Reliable results can be obtained from rare samples or samples with low amounts of DNA![](/repository/image/403ff3d3-060e-4bce-90b5-cfb637d4bb3c.jpg)