Genehealth Pvt Ltd.
Helping Pharma companies develop Precision medicine using Clinical Data & AI.
What is Targeted Variant Testing?
Targeted variant testing is a specialized genetic test used during pregnancy to confirm the presence of specific, known mutations in the fetus. It is most commonly recommended when one or both parents are carriers of a known genetic condition or when a variant of concern has been identified through broader screening, such as next-generation sequencing (NGS). Unlike general screening tests, targeted variant testing focuses on a precise region of the DNA, delivering highly accurate, confirmatory results.
How Does the Targeted Variant Testing Work?
| 1. Sample Collection | Amniotic fluid (15-20 weeks) or CVS sample (11-14 weeks) is collected by the specialist. |
| 2. DNA Extraction | Fetal DNA is isolated from the sample in our NABL-accredited lab. |
| 3. PCR Amplification | Specific gene regions associated with the suspected variant are amplified using PCR. |
| 4. Sanger Sequencing | The gold-standard Sanger method is used to sequence the target region. |
| 5. Expert Analysis | Our geneticists compare the fetal DNA against the known parental variant. |
| 6. Final Report | A comprehensive report confirms the presence or absence of the mutation. |
Why Choose Targeted Testing?
- Gold Standard Accuracy: Uses Sanger Sequencing for 99.9% confirmation.
- Cost-Effective: Focuses only on the required gene, reducing unnecessary costs.
- Rapid Answers: Targeted analysis allows for faster reporting than whole genome tests.
- Definitive Diagnosis: Provides clear Yes/No results for specific familial mutations.
Specifications
| Sample Type: | Amniotic Fluid / CVS / Blood (Parents) |
| Methodology: | Sanger Sequencing / PCR |
| Turnaround Time: | 7 – 10 Working Days |
| Pre-requisites: | Previous genetic report of proband/parents. |
When to use Targeted Variant Testing?
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Known Parental Carriers
Recommended when both partners are known carriers of a specific genetic disorder (e.g., Thalassemia, Cystic Fibrosis) to determine if the fetus is affected.
Previous Affected Child
Essential for families with a history of a child born with a specific genetic mutation, ensuring early diagnosis for the current pregnancy.
Key Highlights of GeneHealth’s Testing
High Precision
Utilizes Sanger Sequencing, the gold standard for mutation confirmation, ensuring near 100% accuracy.
Expert Interpretation
Reports are analyzed by board-certified geneticists with correlation to parental reports.
Genetic Counselling
Comprehensive pre- and post-test counselling support to help families understand the implications.
