| Purpose | BGI VISTA™ Chromosome Sequencing
Test uses NGS-based low coverage Whole Genome Sequencing (WGS) to help detect chromosome abnormalities before or during pregnancy.“Understand possible genetic causes of repeated miscarriage or confirm suspected chromosomal abnormalities”Suitable for Individuals or couples:- Individuals or couples who want to confirm the high-risk screening test results, such as Maternal Serum Screening (MSS) or Non-invasive Prenatal Testing (NIPT).
- 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 belonging to a population which is at higher risk of chromosomal abnormality or patients who want to understand if a chromosome abnormality was a factor in a miscarriage.
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| Test Code | - BGI VISTA™ Chromosome Sequencing-5M (Deletions or Duplications>5Mb): DX1445.
- BGI VISTA™ Chromosome Sequencing-100k (Deletions or Duplications>100kb): DX1446.>
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| Turnaround Time (TAT) | 15 Days |
| Sample Tested | BGI VISTA™ Chromosome Sequencing - Abortion Tissue, Core Blood (Gestation week >12 weeks), 5mL of peripheral blood in EDTA and Amniotic Fluid.
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| Methodology | - DNA Extraction and QC.
- Chromosome sequencing combines high throughput sequencing technologies with biological analysis to obtain accurate information about abnormalities across all 24 chromosomes.
- Next generation sequencing enables chromosome sequencing to detect aneuploidy, deletions or duplications larger than 100kb.
- Genetic Counseling.
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| Advantages | BGI VISTA™ Chromosome Sequencing- Cannot detect chromosomes with high rate of duplications or pyknosis (Abnormalities near centromere or telemetric regions: such as Robertsonian translocation).
- Cannot detect polyploidy, abnormalities smaller than 100Kb or chimeras with low percentages
- Patients who have had allogeneic transfusions or organ transplants are not eligible for testing
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