POU4F3 Gene Deafness, autosomal dominant type 52 NGS Genetic Test
Short Name: DFNA52 NGS Genetic Test
Also known as: DFNA52 Genetic Test, POU4F3 Mutation Analysis, Autosomal Dominant Hearing Loss Type 52 NGS Test, POU4F3 Gene Sequencing Test, Hereditary Deafness POU4F3 Test
POU4F3 Gene Deafness, autosomal dominant type 52 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Confirmation, Bioinformatics Analysis on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in 3 to 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 detect pathogenic mutations in the POU4F3 gene that cause autosomal dominant non-syndromic hearing loss type 52 (DFNA52). It is used to confirm a clinical diagnosis of hereditary hearing loss, identify the specific genetic cause for prognostic counselling, guide treatment planning such as hearing rehabilitation or cochlear implantation, enable carrier testing and cascade screening of family members, and assist in genetic counselling for reproductive decision-making.
- Test Code
- 2321
- CPT Code
- 81405
- ICD Code
- H90.3
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks from sample receipt at the laboratory
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger Confirmation, Bioinformatics Analysis
Sample Collection
No special preparation such as fasting is required. Inform the laboratory about any recent blood transfusions, ongoing anticoagulant medications, or previous genetic testing. A genetic counselling session is recommended before sample collection to document family history, construct a pedigree chart, and discuss the implications of potential test outcomes.
Method: Venipuncture
Laboratory Analysis
A trained phlebotomist will collect approximately 3 mL of venous blood in an EDTA (lavender top) vacutainer under aseptic conditions. Alternatively, a finger-prick blood sample can be deposited on an FTA card. The sample will be labelled with patient identifiers and stored at ambient room temperature for transport to the laboratory.
Report Delivery
After collection, the sample is transported to DNA Labs India's NABL-accredited laboratory under controlled ambient temperature conditions. DNA extraction, library preparation, and NGS sequencing are performed following validated protocols. Results are typically available within 3 to 4 weeks. Patients will be informed when results are ready and a genetic counselling session is offered to discuss findings.
Timeline: 3 to 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 detect pathogenic mutations in the POU4F3 gene that cause autosomal dominant non-syndromic hearing loss type 52 (DFNA52). It is used to confirm a clinical diagnosis of hereditary hearing loss, identify the specific genetic cause for prognostic counselling, guide treatment planning such as hearing rehabilitation or cochlear implantation, enable carrier testing and cascade screening of family members, and assist in genetic counselling for reproductive decision-making.
How to Prepare
- Ensure the patient has not received a blood transfusion within the past 4 weeks
- Collect 3 mL venous blood in an EDTA (lavender top) vacutainer using standard venipuncture technique
- Alternatively, collect one drop of blood on an FTA card and allow it to air dry completely
- Label the sample with patient name, date of birth, sample ID, and date of collection
- Store and transport the sample at ambient room temperature (15°C to 30°C)
- Do not freeze whole blood samples
- Ship the sample to DNA Labs India within 48 hours of collection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Autosomal dominant sensorineural hearing loss caused by POU4F3 gene mutations often presents as progressive bilateral high-frequency hearing loss beginning in early childhood. Early genetic diagnosis through NGS allows timely intervention with hearing aids or cochlear implants and enables family cascade testing to identify at-risk relatives before symptoms manifest."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume (less than 1 mL whole blood)
- Haemolysed or clotted blood samples
- Samples collected in incorrect anticoagulant (e.g., heparin tubes)
- Samples without proper labelling or identifiers
- Samples received more than 7 days after collection for whole blood
- Contaminated FTA cards or improperly dried FTA samples
Understanding Your Results
Pathogenic Variant Detected
A mutation in the POU4F3 gene known to cause DFNA52 has been identified. This confirms the genetic basis of the patient's hearing loss and indicates autosomal dominant inheritance with a 50% chance of transmission to offspring.
Action: Consult with a clinical geneticist and ENT specialist for management planning. Offer cascade testing to at-risk family members. Discuss hearing rehabilitation options.
Likely Pathogenic Variant Detected
A variant in the POU4F3 gene that is very likely to cause DFNA52 has been identified based on available evidence. Clinical correlation with the patient's phenotype and family history is recommended.
Action: Consult a geneticist for interpretation. Consider family segregation studies to strengthen variant classification. Monitor hearing status over time.
Variant of Uncertain Significance (VUS)
A variant in the POU4F3 gene was detected but there is currently insufficient evidence to classify it as pathogenic or benign. This result alone cannot confirm or exclude a diagnosis of DFNA52.
Action: Clinical correlation with the patient's symptoms and family history is essential. Family segregation studies and periodic reassessment of variant classification are recommended.
No Pathogenic Variant Detected
No clinically significant mutations were identified in the POU4F3 gene. This result does not exclude a genetic cause of hearing loss, as mutations in other genes (e.g., GJB2, SLC26A4, TMC1, TMPRSS3) may be responsible.
Action: Consider a comprehensive hearing loss gene panel test or additional genetic evaluation. Correlate with clinical findings and family history.
Consult your ENT specialist or clinical geneticist if you or your child experience progressive hearing loss, unexplained bilateral sensorineural hearing loss, hearing loss with a family history of deafness, or tinnitus that persists without an obvious cause. Early genetic diagnosis allows for timely hearing intervention and informed family planning decisions.
Limitations
- ⚠This test analyses only the POU4F3 gene and does not screen for mutations in other hearing loss-associated genes
- ⚠Large genomic rearrangements, copy number variations, or deep intronic mutations may not be fully detected by standard NGS sequencing
- ⚠The clinical significance of some detected variants may be uncertain (VUS) and may require additional family studies or functional data for definitive classification
- ⚠A negative result does not completely exclude a genetic basis for hearing loss, as other genes or loci may be involved
- ⚠This test does not detect mitochondrial mutations associated with hearing loss
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Very rare risk of infection at the venipuncture site
- ●Psychological impact of receiving genetic diagnostic information
- ●Potential identification of variants of uncertain significance that may cause anxiety
Interfering Factors
- ●Degraded or insufficient DNA quality from the sample may affect sequencing results
- ●Recent blood transfusion within the past 4 weeks may lead to mixed DNA profiles
- ●Concurrent use of anticoagulant therapy may affect blood sample processing
- ●Contamination during sample collection or transport may impact NGS library preparation
Compare With Similar Tests
| Test | POU4F3 Gene Deafness, autosomal dominant type 52 NGS Genetic Test | GJB2 Gene (Connexin 26) Deafness NGS Test | SLC26A4 Gene Hearing Loss NGS Test | Comprehensive Hearing Loss Gene Panel NGS Test |
|---|---|---|---|---|
| Comparison | POU4F3 Gene Deafness, autosomal dominant type 52 NGS Genetic Test |
Frequently Asked Questions
What is the POU4F3 gene and how does it relate to hearing loss?
What is DFNA52?
Who should get the POU4F3 Gene NGS Genetic Test?
What sample is required for this test?
How long does it take to get the results?
What does a positive result mean?
What does a negative result mean?
Is this test covered by insurance in India?
What is the cost of the POU4F3 Gene NGS Genetic Test in India?
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