GJB2 Gene Keratoderma, palmoplantar, with deafness NGS Genetic Test
Short Name: GJB2 PPK Deafness NGS Test
Also known as: GJB2 Connexin 26 Gene Test, Palmoplantar Keratoderma with Deafness Genetic Test, GJB2 Gene Sequencing Test, Connexin 26 Mutation Analysis, DFNB1 Associated Hearing Loss Test
GJB2 Gene Keratoderma, palmoplantar, with deafness NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Sequencing Confirmation, Bioinformatic Variant Analysis on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from the date of 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 primary purpose of this test is to identify pathogenic or likely pathogenic mutations in the GJB2 gene that are responsible for palmoplantar keratoderma with sensorineural deafness. This test enables accurate molecular diagnosis, differentiation from other causes of hearing loss and keratoderma, carrier detection in family members, informed genetic counselling, and guidance for reproductive planning. It also supports early intervention strategies for hearing management in affected individuals.
- Test Code
- 2348
- CPT Code
- 81403
- ICD Code
- Q82.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Sequencing Confirmation, Bioinformatic Variant Analysis
Sample Collection
No special preparation or fasting is required. Ensure you have a valid prescription or doctor's referral. Provide complete clinical and family history information. A genetic counselling session is recommended prior to testing to draw a pedigree chart of affected family members.
Method: Venipuncture or FTA Card Blood Spot
Laboratory Analysis
A trained phlebotomist will collect 3-5 mL of peripheral blood in an EDTA (lavender top) tube using standard venipuncture technique. Alternatively, one drop of blood on an FTA card or a saliva sample may be collected. The procedure takes approximately 5-10 minutes.
Report Delivery
Apply gentle pressure to the venipuncture site with cotton wool for 3-5 minutes. There are no activity restrictions after sample collection. Results will be available in 3 to 4 weeks and can be accessed via the online portal, email, or WhatsApp.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this test is to identify pathogenic or likely pathogenic mutations in the GJB2 gene that are responsible for palmoplantar keratoderma with sensorineural deafness. This test enables accurate molecular diagnosis, differentiation from other causes of hearing loss and keratoderma, carrier detection in family members, informed genetic counselling, and guidance for reproductive planning. It also supports early intervention strategies for hearing management in affected individuals.
How to Prepare
- Blood must be collected in an EDTA (lavender top) anticoagulant tube
- Label the sample clearly with patient name, date of birth, date and time of collection
- If using an FTA card, ensure the blood spot is fully dried before packaging
- Transport the sample at ambient room temperature (15-30°C)
- Do not freeze whole blood samples
- Ensure the sample reaches the laboratory within 72 hours of collection
- Include the completed test requisition form and informed consent document
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"For families with a history of hearing loss or skin disorders such as palmoplantar keratoderma, GJB2 genetic testing provides critical information for understanding inheritance patterns and recurrence risks. Couples who are identified as carriers can benefit from preconception and prenatal counselling to make informed family planning decisions. Early identification of affected children also enables timely audiological intervention, which is essential for speech and language development."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Samples collected in incorrect anticoagulant tubes (non-EDTA)
- Insufficient sample volume (less than 2 mL)
- Samples without proper labeling or identification
- Severely degraded DNA upon extraction
- Samples without accompanying requisition form or consent
Understanding Your Results
Confirms a molecular diagnosis of GJB2-associated palmoplantar keratoderma with deafness. Genetic counselling, audiological evaluation, dermatological management, and family screening are recommended.
The individual is a carrier of a GJB2 pathogenic variant. Carrier status may have implications for offspring. Partner testing and genetic counselling are recommended. Clinical features may or may not be present depending on the variant and inheritance pattern.
Strongly suggestive of disease association. Clinical correlation and genetic counselling are advised. Segregation analysis in the family may help confirm pathogenicity.
The clinical significance of this variant cannot be definitively determined with current evidence. It should not be used alone for clinical decision-making. Additional family studies and periodic re-evaluation of variant databases are recommended.
No disease-causing variants were identified in the GJB2 gene. This result does not completely exclude a genetic etiology as mutations in other genes may be responsible. Clinical correlation and consideration of expanded gene panels or whole exome sequencing may be warranted.
Consult a doctor or genetic counsellor if you or your child experiences unexplained hearing loss, progressive difficulty hearing, thickening or scaling of skin on the palms and soles of the feet, or if there is a family history of hearing impairment or keratoderma. Prompt consultation is also recommended if you receive a positive or uncertain genetic test result, or if you are planning a pregnancy and are a known carrier of a GJB2 mutation.
Limitations
- ⚠This test is limited to the GJB2 gene only and does not screen other hearing loss or keratoderma-associated genes unless a comprehensive panel is ordered
- ⚠Deep intronic variants, regulatory region variants, and large structural rearrangements may not be fully detected by standard NGS sequencing of coding regions
- ⚠Variants of Uncertain Significance (VUS) may be identified whose clinical significance cannot be determined at the time of reporting
- ⚠This test does not detect mitochondrial DNA mutations associated with hearing loss
- ⚠Negative results do not completely exclude a genetic basis for the patient's condition as other genes may be involved
Risks & Considerations
- ●Minimal risk associated with blood collection: slight bruising or discomfort at the venipuncture site
- ●Psychological impact of receiving genetic test results, including anxiety or distress
- ●Potential identification of variants of uncertain significance which may cause confusion
- ●Implications for insurance and employment in the absence of adequate genetic data protection laws
Interfering Factors
- ●Degraded or insufficient DNA quality may affect sequencing accuracy
- ●Hemolyzed blood samples may yield suboptimal results
- ●Recent blood transfusion within the past 4 weeks may affect results
- ●Contamination during sample collection may interfere with NGS analysis
- ●Mosaicism at low levels may not be reliably detected by standard NGS
Compare With Similar Tests
| Test | GJB2 Gene Keratoderma, palmoplantar, with deafness NGS Genetic Test | Comprehensive Hearing Loss Gene Panel | GJB6 Gene Deletion Analysis | Whole Exome Sequencing (WES) |
|---|---|---|---|---|
| Comparison | GJB2 Gene Keratoderma, palmoplantar, with deafness NGS Genetic Test |
Frequently Asked Questions
What is the GJB2 gene and what does it do?
What is Palmoplantar Keratoderma with Deafness?
Who should consider getting this genetic test?
How is the GJB2 Gene NGS Genetic Test performed?
What sample is required for this test?
How long does it take to get the results?
What does it mean if a pathogenic variant is found in the GJB2 gene?
Is genetic counselling recommended before and after this test?
Can this test be done during pregnancy?
Is home sample collection available for this test?
What is the cost of the GJB2 Gene Keratoderma with Deafness NGS Genetic Test?
Will I receive raw data files along with the clinical report?
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