ACVR2B Gene Heterotaxy, visceral type 4 NGS Genetic Test
Short Name: ACVR2B Heterotaxy NGS Test
Also known as: Heterotaxy Type 4 Genetic Test, ACVR2B Mutation Analysis, Visceral Heterotaxy Genetic Test
ACVR2B Gene Heterotaxy, visceral type 4 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS, Next Generation Sequencing on Blood samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To diagnose Heterotaxy, visceral type 4 by identifying pathogenic mutations in the ACVR2B gene using NGS technology, aiding in clinical management and genetic counseling.
- Test Code
- 5763
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- NGS, Next Generation Sequencing
Sample Collection
No special preparation is required. Provide clinical history and undergo genetic counseling as recommended.
Method: Venipuncture
Laboratory Analysis
A blood sample will be drawn from a vein in the arm using standard venipuncture techniques.
Report Delivery
Apply pressure to the puncture site to stop bleeding. Resume normal activities unless advised otherwise.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose Heterotaxy, visceral type 4 by identifying pathogenic mutations in the ACVR2B gene using NGS technology, aiding in clinical management and genetic counseling.
How to Prepare
- Ensure proper labeling of the sample with patient details
- Transport the sample at ambient room temperature to the lab
- Follow instructions provided by the collection kit if home collection is used
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing is crucial for early diagnosis and management of rare disorders like Heterotaxy, enabling personalized care and family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Improperly labeled or contaminated samples
Understanding Your Results
Pathogenic mutation detected in ACVR2B gene, confirming diagnosis of Heterotaxy, visceral type 4. Genetic counseling recommended for management and family planning.
Result type: Positive
No pathogenic variants detected. Clinical correlation and further testing may be needed if symptoms persist.
Result type: Negative
A genetic variant was found but its clinical significance is unknown. Repeat testing or family studies may be advised.
Result type: Variant of Uncertain Significance (VUS)
Consult a doctor if you experience symptoms such as abnormal heart rhythms, breathing difficulties, or organ abnormalities, or if you have a family history of heterotaxy. After receiving test results, seek guidance from a genetic counselor or specialist for appropriate management.
Limitations
- ⚠May not detect all possible mutations in the ACVR2B gene
- ⚠Results require interpretation by a genetic counselor or specialist
- ⚠Does not rule out other genetic causes of heterotaxy
Risks & Considerations
- ●Minimal risks from blood draw, such as slight pain, bruising, or infection at the puncture site
- ●Psychological impact of genetic results, addressed through counseling
Interfering Factors
- ●Sample contamination or degradation
- ●Insufficient DNA quantity or quality
- ●Recent blood transfusions affecting DNA analysis
Compare With Similar Tests
| Test | ACVR2B Gene Heterotaxy, visceral type 4 NGS Genetic Test | ZIC3 Gene Heterotaxy Test | NODAL Gene Heterotaxy Test | CFC1 Gene Heterotaxy Test | DNAH5 Gene Primary Ciliary Dyskinesia Test |
|---|---|---|---|---|---|
| Comparison | ACVR2B Gene Heterotaxy, visceral type 4 NGS Genetic Test | Targets mutations in the ZIC3 gene, another cause of heterotaxy, but focuses on different genetic pathways. | Analyzes the NODAL gene for mutations associated with laterality defects, complementary to ACVR2B testing. | Examines the CFC1 gene, which is linked to heterotaxy and congenital heart defects. | Tests for mutations causing primary ciliary dyskinesia, which can present with similar symptoms but different genetic basis. |
Frequently Asked Questions
What is Heterotaxy, visceral type 4?
What causes Heterotaxy type 4?
How is the ACVR2B Gene Test performed?
What is the cost of the ACVR2B Gene Heterotaxy Test?
Is home sample collection available for this test?
How long does it take to get the test results?
What do the test results mean?
Is genetic counseling required before or after the test?
Are there any risks associated with the test?
Can this test be done during pregnancy?
What other tests are related to Heterotaxy diagnosis?
How accurate is the NGS technology used in this test?
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₹20,000Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
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