CNV-Seq

Clinical indications

Postnatal

Children or adults with unexplained disease symptoms (Peripheral blood DNA) Prenatal

Prenatal

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 system

Case 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


CNV-seq identified terminal deletion/duplication events at the end of chromosomes 2 and 8, indicating an balanced translocation.

Follow up FISH verified that the husband had t(2;8)(q36.1;q24.23) balanced translocation. The couple choose PGT and they successfully achieved a healthy baby.

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 arrays

The 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


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