Introduction
Most people do not know they are a carrier for an inherited genetic disease until they have a child with the disease. BGI Genomics provides a comprehensive portfolio of carrier screening panels to screen for the AR* and XL* diseases, giving variant information that allows the family to find out the chances of having a child with a genetic disorder.
*AR: Autosome recessive
*XL: X-linked
What clinical challenges are targeted by VISTA™ Carrier Screening?
The recessive disorders are prevalent all around the world. It takes two genes—one inherited from the mother and one inherited from the father—for a person to get a recessive disorder. If a person has only one gene for a disorder, he or she is known as a carrier. Carriers often do not know that they have a gene for a disorder. They usually do not have symptoms or have only mild symptoms.
If both parents are carriers of a recessive gene for a disorder, there is a 25 percent (1-in-4) chance that their child will get the gene from each parent and will have the disorder. There is a 50 percent (1-in-2) chance that the child will be a carrier of the disorder—just like the carrier parents. If only one parent is a carrier, there is a 50 percent (1-in-2) chance that the child will be a carrier of the disorder.
Carrier screening tests for the AR or XL variants for the individual or couple, giving the information whether the individual is a carrier for certain recessive disorders, or both parents are carriers of the same recessive gene for a disorder.
Applicable Clinical Scenarios
- Individuals or couples who want to know more about their genetic status to make more informed reproductive decision.
- Individuals or couples receiving donor sperm or eggs and who want to select a donor that doesn’t carry the same variants as the member of the couple who will provide the gametes.
- People with a family history of a genetic disease or from an ethnic background known to be at risk for certain genetic diseases and who are therefore at higher risk of being carriers for those diseases.
- Couples who are already pregnant and who wish to know more about the genetic health of their pregnancy.
Important features of VISTA™ Carrier Screening
| Product Name | VISTA™ Carrier Screening |
| Detection Method | NGS (Target capture) + TP PCR (optional) + long PCR (optional) |
| Sample Type | Peripheral blood; Saliva (do not support Fragile X Syndrome and Hemophilia A) |
| Option 1 (10+ panel) | 11 conditions with high incidence (13 Genes, 4000+Variants) |
| Option 2 (170+ panel) | 172 conditions with high incidence (164 Genes, 10000+Variants) |
| Option 3 (1200+ panel) | 1236 conditions with high incidence (1233 Genes) |
| Conditions Detected | 11/172/1236 conditions with high incidence (AR, XL), Fragile X Syndrome (optional), Hemophilia A (optional) |
| Variants Detected | SNVs, within 20bp small Indels and deletions/duplications of some gene exons (including deletion or duplication of two or more consecutive exons in DMD, deletion of exon 7 of in the SMN1 gene and eight large deletions in HBA/HBB (-SEA, -α3.7, -α4.2, --THAI, --FIL, Chinese, Taiwanese and SEA-HPFH) |
Why choose VISTA™ Carrier Screening
- Accurate
We can use various techniques, such as NGS (target capture), TP PCR (optional), and long PCR (optional), in combination to enhance the accuracy of the results.
- Comprehensive
Different product panels are available for selection, allowing for the screening of multiple diseases with high accuracy.
- Multiple Sample Types
Carrier Screening product can accommodate samples from saliva or peripheral blood.
- Safe
We offer a safe and non-invasive method for comprehensive genetic analysis.
The VISTA™ Carrier Screening detection service process
Step 1
Physician orders test
Step 2
Sample collected
Step 3
Sample shipped to us and analyzed
Step 4
Results sent to physician
Localization solution of VISTA™ Carrier Screening
| Automation equipment | Sequencer | Maximum samples/ Flow cell | Sequencing time | Bioinformatics analysis |
|---|---|---|---|---|
| NanoMagBio N96 is used for DNA extraction; Rest of the steps are done manually | DNBSEQ-G400 | 384 | 38h | Halos-Carrier bioinformatics analysis system |
- User-friendly control
Independently developed desktop sequencer and automatic processing system.
- Accurate detection
Patented DNB nanoball (DNB) library construction technology and Combinatorial Probe-Anchor Synthesis sequencing technology.
- Flexible throughput
Metagenomic sequencing of 384 samples can be performed at a time depending on different sequencing platforms.
- Comprehensive database
BGI Genomics internal database which comprehensively integrates the public variant information and BGI Genomics internal accumulated sample information.
VISTA™ Carrier Screening resources
Learn more about our product solution by downloading our relevant materials.
10+ panel condition list
170+ panel condition list
1200+ panel condition list
Comprehensive carrier genetic test using next-generation deoxyribonucleic acid sequencing in infertile couples wishing to conceive through assisted reproductive technology
Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples