ACTG1 Gene Deafness, autosomal dominant type 20 NGS Genetic Test
Short Name: ACTG1 Deafness NGS Test
Also known as: DFNA20 Genetic Test, ACTG1 Gene Sequencing, Hereditary Deafness NGS Test
ACTG1 Gene Deafness, autosomal dominant type 20 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood samples. Results in Results are typically available within 3-4 weeks from sample receipt at the laboratory.. 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
The purpose of this test is to accurately diagnose autosomal dominant type 20 deafness by identifying mutations in the ACTG1 gene using NGS technology. It aids in confirming clinical suspicion, guiding treatment decisions, facilitating genetic counseling for affected families, and enabling prenatal or preconception planning when indicated.
- Test Code
- 2299
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- Results are typically available within 3-4 weeks from sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Obtain detailed clinical and family history of the patient. A genetic counseling session is recommended to draw a pedigree chart of affected family members. Ensure proper identification and consent.
Method: Venipuncture
Laboratory Analysis
Standard venipuncture procedure to collect 5 mL of blood in an EDTA tube under aseptic conditions. Label the sample correctly with patient details.
Report Delivery
Store the sample at ambient room temperature and transport to the lab promptly. Avoid extreme temperatures. Inform the patient about result timeline and follow-up steps.
Timeline: Results are typically available within 3-4 weeks from sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to accurately diagnose autosomal dominant type 20 deafness by identifying mutations in the ACTG1 gene using NGS technology. It aids in confirming clinical suspicion, guiding treatment decisions, facilitating genetic counseling for affected families, and enabling prenatal or preconception planning when indicated.
How to Prepare
- Fast for 4-6 hours if required, though not mandatory for this test
- Avoid strenuous activity before sample collection
- Bring any previous medical reports or genetic test results
- Ensure patient is well-hydrated for easier blood draw
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is vital for early diagnosis and family counseling in hereditary hearing loss cases, especially with autosomal dominant inheritance."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed, clotted, or insufficient blood sample
- Improperly labeled or unidentified sample
- Sample collected in non-EDTA anticoagulant tubes
- Specimen older than 72 hours without proper preservation
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of autosomal dominant type 20 deafness. Carrier status for family members and risk assessment for offspring can be determined.
No pathogenic variant detected
Reduces likelihood of ACTG1-related deafness, but does not exclude other genetic or environmental causes. Further testing may be recommended.
Variant of uncertain significance (VUS)
A genetic variant was found, but its clinical significance is unknown. Repeat testing or family studies may help clarify its role.
Consult a geneticist or ENT specialist if you experience progressive hearing loss, have a family history of deafness, or receive a positive test result for genetic counseling and management planning.
Limitations
- ⚠May not detect all genetic variations or structural mutations in the ACTG1 gene
- ⚠Variants of uncertain significance may be identified, requiring further investigation
- ⚠Test accuracy depends on proper sample collection and handling
- ⚠Cannot rule out other genetic or non-genetic causes of hearing loss
Risks & Considerations
- ●Minor bruising or pain at the blood draw site
- ●Very small risk of infection at the puncture site
- ●Potential psychological impact of genetic results, requiring counseling
Interfering Factors
- ●Sample contamination during collection or processing
- ●Hemolyzed or degraded blood sample
- ●Insufficient sample volume for DNA extraction
- ●Recent blood transfusion may affect genetic analysis
Compare With Similar Tests
| Test | ACTG1 Gene Deafness, autosomal dominant type 20 NGS Genetic Test | GJB2 Gene Deafness Test | Comprehensive Deafness Panel NGS | STRC Gene Deafness Test |
|---|---|---|---|---|
| Comparison | ACTG1 Gene Deafness, autosomal dominant type 20 NGS Genetic Test | Detects mutations in the GJB2 gene, associated with autosomal recessive deafness. Often less expensive but covers a different inheritance pattern. | Analyzes multiple genes linked to hearing loss, providing broader coverage but at a higher cost than single-gene tests. | Targets the STRC gene for autosomal recessive deafness. Useful for specific populations but not for autosomal dominant cases like DFNA20. |
Frequently Asked Questions
What is the ACTG1 Gene Deafness NGS Genetic Test?
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How is the test performed?
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Is home sample collection available?
How accurate is the NGS genetic 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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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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