CABP2 Gene Deafness, autosomal recessive type 93 NGS Genetic Test
Short Name: CABP2 AR Deafness NGS Test
Also known as: CABP2-related autosomal recessive deafness, DFNB93
CABP2 Gene Deafness, autosomal recessive type 93 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card 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 autosomal recessive deafness type 93 caused by mutations in the CABP2 gene, enabling accurate genetic counseling, family planning, and management of hereditary hearing loss.
- Test Code
- 4757
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation is needed. Provide detailed clinical history and family history of deafness.
Method: Venipuncture or finger prick
Laboratory Analysis
A trained phlebotomist will collect a blood sample via venipuncture or finger prick.
Report Delivery
Apply pressure to the puncture site to prevent bruising. The sample will be securely transported to the laboratory.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose autosomal recessive deafness type 93 caused by mutations in the CABP2 gene, enabling accurate genetic counseling, family planning, and management of hereditary hearing loss.
How to Prepare
- Ensure proper patient identification
- Use sterile collection equipment
- Label the sample correctly with patient details
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for CABP2 gene mutations is crucial for early diagnosis and management of hereditary deafness. Consultation with a genetic counselor is recommended for interpretation and family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Incorrect labeling or insufficient sample volume
- Contaminated sample
Understanding Your Results
Positive
Pathogenic variant detected in the CABP2 gene, confirming diagnosis of autosomal recessive deafness type 93. Genetic counseling recommended.
Negative
No pathogenic variants detected in the CABP2 gene. Clinical correlation is advised as other genetic or non-genetic causes may be present.
Variant of Uncertain Significance (VUS)
A genetic variant was found but its clinical significance is unknown. Further testing and family studies may be needed.
If you experience symptoms of deafness, have a family history of genetic hearing loss, or receive a positive test result, consult a healthcare professional or genetic counselor for further evaluation and management.
Limitations
- ⚠May not detect all possible mutations in the CABP2 gene
- ⚠Requires genetic counseling for accurate interpretation
- ⚠Results should be correlated with clinical findings
Risks & Considerations
- ●Minor bruising or discomfort at the blood collection site
- ●Rare risk of infection at puncture site
- ●Psychological impact of genetic results, requiring counseling support
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Insufficient sample volume
- ●Hemolyzed blood sample
Compare With Similar Tests
| Test | CABP2 Gene Deafness, autosomal recessive type 93 NGS Genetic Test | GJB2 Gene Deafness NGS Test | SLC26A4 Gene Deafness NGS Test | Comprehensive Hearing Loss Gene Panel |
|---|---|---|---|---|
| Comparison | CABP2 Gene Deafness, autosomal recessive type 93 NGS Genetic Test |
Frequently Asked Questions
What is CABP2 Gene Deafness?
How is the CABP2 Gene Deafness NGS Genetic Test performed?
What is the cost of the CABP2 Gene Deafness NGS Genetic Test in India?
Is home sample collection available for this test?
How long does it take to get the test results?
What do the test results indicate?
Is the test covered by insurance?
Who should consider taking this test?
What are the symptoms of CABP2 Gene Deafness?
How accurate is the NGS test for detecting CABP2 mutations?
Can this test be used for prenatal diagnosis?
What should I do after receiving the test results?
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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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