VISTA™ Chromosome Sequencing

VISTA™ Chromosome Sequencing is a state-of-the-art NGS platform for the molecular diagnosis of chromosomal abnormalities, based on the low-pass whole-genome sequencing (CNV-seq) method combined with short tandem repeat (STR) analysis. The solution was developed by BGI specifically to detect aneuploidy, triploidy, as well as deletions and duplications ≥100 Kb in size across the entire genome.

Key Features

• Detection of all aneuploidies, triploidy, and CNVs ≥100 Kb
• High sensitivity to mosaicism with a frequency >10%
• Does not require a large amount of biomaterial (≥2 mL of blood or ≥100 ng of DNA)
• Fast turnaround time (TAT)—up to 14 business days

Clinical Indications

VISTA™ sequencing is recommended for:

• Confirmation of high risk based on screening results (e.g., NIPT)
• Cases of recurrent miscarriages, including spontaneous abortions before and after 12 weeks
• Cases with abnormal ultrasound findings but a normal karyotype
• Evaluation of fetuses with congenital developmental anomalies
• Postmortem tissue analysis in cases of stillbirth or unexplained pregnancy loss
• Diagnosis of intellectual disability or developmental delay in children

Methodology

The combination of low-pass WGS and STR analysis allows for the highly accurate detection of chromosomal abnormalities, including large structural variations. Bioinformatics analysis covers all 24 chromosomes.

Available product formats

• VISTA™ Chromosome Sequencing - 1M: Detection of CNVs ≥1 Mb
• VISTA™ Chromosome Sequencing - 100K: High resolution, CNVs ≥100 Kb

Limitations of the method

• Does not detect CNVs <100 Kb, UPD, LOH, or monogenic diseases
• Does not detect polyploidy, mosaicism <10%, or defects in centromere or telomere regions
• Not recommended for patients who have undergone allogeneic transfusions or organ transplants

VISTA™ Chromosome Sequencing — high-precision sequencing for the detection of chromosomal abnormalities.