VISTA™ Chromosome Sequencing

Introduction

Chromosomal deletion or duplication syndromes result from deletion or duplication of parts of chromosomes. They may cause severe congenital anomalies and significant intellectual and physical
disabilities. Vista™ Chromosome Sequencing uses NGS based low coverage whole genome sequencing (WGS) to help detect chromosome abnormalities before or during pregnancy.

The results obtained from testing can reduce a patient’s emotional burden and information from the results can improve the chances of a future successful pregnancy. If the chromosome abnormality in the fetus is identified as causing the pregnancy loss, parents can usually be reassured that the chance of recurrence is low, and avoid a costly medical check-up.

Conditions screened

Option 1: BGI VISTA™ Chromosome Sequencing-5M: deletions or duplications >5Mb

Option 2: BGI VISTA™ Chromosome Sequencing-5M: deletions or duplications >100Kb

Sample requirement

Abortion Tissue (or)
Core Blood (Gestation week ≥12 weeks) (or)
Peripheral Blood (or)
DNA (or)
Amniotic Fluid

Who should consider Vista™ Chromosome Sequencing?

Individuals or couples who have suffered from repeated miscarriage or who have had a child who suffers from a genetic condition
Individuals or couples who have had abnormal ultrasonography results, but with negative CGH, SNP results
Anyone suspected of chromosome abnormality populations or patients who want to understand if a chromosome abnormality was a factor in a miscarriage

VISTA™ Chromosome Sequencing

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