| Purpose | BGI VISTA™ Carrier Screening:
Carrier screening is a genetic test that identifies gene mutation for certain genetic disorders carried by a patient. Carrier screening is conducted before or during pregnancy, it allows a patient to find out his/her chances of having a child with a genetic disorder. This test detects 11,000 mutations across 164 genes, for more than 172 monogenic disorders (Targeted Panel).
VISTA Carrier Screening Mini Panel:- Screens for more than 5,400 mutations associated with 11 recessive monogenic diseases..
VISTA Carrier Screening Targeted Panel 2.0: - Screens for more than 11,000 mutations associated with 172 recessive monogenic diseases.
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| Test Code | 1. VISTA Carrier Screening Mini Panel: DX1470
2. VISTA Carrier Screening Targeted Panel 2.0: HW3107 |
| Turnaround Time (TAT) | 20 Days |
| Sample Tested | BGI VISTA™ Carrier Screening:- 5mL of peripheral blood in EDTA OR 2mL of saliva OR ≥3µg good quality DNA
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| Methodology | - DNA Extraction and QC.
- Targeted Capture of selected genes associated with 11 diseases (Mini Panel) OR genes associated with (Targeted Panel 2.0).
- Identification of pathogenic mutations in genes associated with 11 monogenic genetic diseases (Mini Panel) and 172 monogenic genetic diseases (Targeted Panel 2.0) using NGS.
- Additionally, Long range PCR, Gap-PCR, qPCR and SANGER sequencing.
- Reports having information for mutation carrier individuals or couples.
- Genetic Counseling.
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| Advantages | BGI VISTA™ Carrier Screening:- SAFE; Test from just peripheral blood or saliva.
- Cost effective: Screen for multiple disease with high accuracy.
- High Accuracy; Sensitivity and Specificity Up to 99%.
- Flexible: Comprehensive or targeted panel options available.
VISTA Hemophilia A- Point mutation, small fragment insertions and deletions, intron 1 and 22 inversion, located at F8.
- Target region capture coupled with NGS and Long-range PCR.
Fragile X Syndrome Test
- FMR1 CGG repeat.
- TP-PCR and Fluorescence capillary electrophoresis.
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