Deafness Gene Panel Test: Booking, Price, and Results
About Deafness Gene Panel Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | hearing loss gene panel, Hereditary deafness panel, Comprehensive hearing loss panel, NGS hearing loss panel |
| Sample Type | Peripheral blood (EDTA tube), chorionic villus sample (CVS), or amniotic fluid |
| Fasting Required | No fasting required |
| Report Time | 35 days |
| Recommended For | All ages; infants who fail newborn hearing screening, individuals with congenital or unexplained hearing loss, and those with a family history of hearing impairment |
| Price | Starting at ₹21,600 |
What is a Deafness Gene Panel Test?
The deafness gene panel test is a genetic test that examines multiple genes linked to hereditary hearing loss. It uses next-generation sequencing (NGS) technology to identify gene variants that may cause or contribute to deafness. Doctors prescribe it for individuals with unexplained hearing loss, a failed newborn hearing screen, or a family history of deafness. It is also known as the hearing loss gene panel or hereditary deafness panel.
What Does a Deafness Gene Panel Test Measure?
This test analyses a set of genes known to be associated with hearing loss. Each gene plays a role in inner ear function, and changes (variants) in these genes can disrupt normal hearing. The key genes examined include:
| Gene | Association |
|---|---|
| GJB2 (Connexin 26) | The most commonly affected gene in non-syndromic hereditary hearing loss |
| GJB6 (Connexin 30) | Works alongside GJB2; deletions cause hearing loss |
| SLC26A4 | Linked to Pendred syndrome and enlarged vestibular aqueduct |
| MT-RNR1 | Mitochondrial gene; associated with aminoglycoside-induced and maternally inherited deafness |
| MYO7A | Associated with Usher syndrome type I (hearing and vision loss) |
| OTOF | Linked to auditory neuropathy, a type of hearing disorder |
| POU3F4 | Associated with X-linked deafness |
Why is a Deafness Gene Panel Test Done?
A doctor may order this test when there is a need to identify the genetic cause of hearing loss. The results can guide further management and help family members understand their own risk.
Common Symptoms That May Require This Test
Patients are typically referred for this test based on one or more of the following:
- Congenital deafness (hearing loss present from birth)
- Failure of a newborn hearing screening test
- Delayed speech or language development in a child
- Progressive hearing loss with no clear cause
- Difficulty hearing everyday conversations
- Balance problems alongside hearing difficulties
- A family history of hearing impairment
Conditions This Test Can Help Detect
The deafness gene panel test can help identify both isolated and syndrome-related hearing loss, including:
- Non-syndromic hearing loss (hearing loss as an isolated finding, accounting for approximately 70% of genetic hearing loss cases)
- Usher syndrome (hearing loss combined with progressive vision loss)
- Pendred syndrome (hearing loss with an enlarged thyroid gland and inner ear abnormalities)
- Waardenburg syndrome (hearing loss with changes in skin, hair, and eye pigmentation)
- Alport syndrome (hearing loss associated with kidney problems)
- Jervell and Lange-Nielsen syndrome (hearing loss with heart rhythm abnormalities)
How to Prepare and What to Expect
The deafness gene panel test procedure is straightforward and does not require any special preparation before the appointment. Here is what patients should know.
Do You Need to Fast?
No fasting is required before this test. You can eat and drink normally on the day of collection.
Practical Tips Before Your Test
Keep the following in mind before attending your appointment:
- Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test
- Carry any available audiograms (hearing test reports) and imaging studies to help with result interpretation
- Inform your doctor if you have had a recent blood transfusion or bone marrow transplant, as this can affect DNA analysis
- Pre-test genetic counselling is recommended; a counsellor will collect your medical history and a three-generation family pedigree
- Avoid alcohol, tobacco, and other substances before the test, as advised by your doctor
Step-by-Step Procedure
The sample collection process varies depending on the sample type required by your doctor. Below is what to expect for each.
Peripheral Blood (most common):
- A trained phlebotomist cleans a vein, usually in the arm, with an antiseptic swab.
- A small amount of blood (3 ml) is drawn into a lavender-top EDTA tube.
- The sample is labelled with your details and the date of collection.
- It is stored at 2 to 8 degrees Celsius and transported to the laboratory.
- DNA is extracted and analysed using next-generation sequencing (NGS) technology.
- Results are typically available within 35 days.
Chorionic Villus Sample (CVS) or Amniotic Fluid (when required):
- This sample is collected by a specialist doctor in a clinical setting.
- For CVS, a small amount of placental tissue (30 mg) is taken using a fine needle or catheter.
- For amniotic fluid, a sample (20 ml) is collected via a procedure called amniocentesis.
- The sample is placed in a sterile container or Falcon tube and labelled.
- It is refrigerated at 2 to 8 degrees Celsius and sent to the laboratory promptly.
- DNA is extracted and sequenced; results are available within 35 days.
Factors That Can Affect Accuracy
Certain factors may influence the reliability of the test result:
- Poor sample quality or improper handling during transport
- Recent blood transfusion or bone marrow transplant (the analysed DNA may not reflect the patient's own genetic makeup)
- An incomplete or inaccurate clinical and family history was provided at the time of testing
- Mitochondrial gene variants, which are occasionally not detectable in blood samples
Understanding Your Deafness Gene Panel Test Results
This is a qualitative genetic test, so results are not reported as numbers. Instead, each identified variant is classified according to American College of Medical Genetics and Genomics (ACMG) guidelines. Your doctor or genetic counsellor will explain what the findings mean for you specifically.
| Classification | Meaning |
|---|---|
| Pathogenic | The variant is confirmed to cause hearing loss |
| Likely Pathogenic | The variant is very likely to cause hearing loss |
| Variant of Uncertain Significance (VUS) | There is not enough evidence yet to determine if the variant causes disease |
| Likely Benign | The variant is probably not disease-causing |
| Benign | The variant does not cause disease |
These ranges are general guidelines. Your doctor will interpret your results based on your age, health history, and other factors. Always consult a qualified healthcare professional for personalised medical advice.
Results During Special Conditions
Two situations may affect how results are interpreted:
In patients who have undergone a bone marrow transplant or received a recent blood transfusion, the DNA analysed from blood may not represent the patient's own genetic profile. Alternative sample types may need to be discussed with the treating doctor.
In rare cases, variants in the mitochondrial genome may not be detected reliably from blood or saliva. DNA extracted from muscle tissue may provide more accurate results in such instances.
How to Maintain Healthy Levels
Since this is a genetic test, results do not change over time. The focus after testing is on informed follow-up:
- Attend regular audiological (hearing) check-ups regardless of the test outcome
- Seek genetic counselling to understand what the result means for you and your family members
- If a syndromic condition is identified (such as Usher syndrome), follow up with the relevant specialist for associated organ systems
Lupin Diagnostics Deafness Gene Panel Test Price and Home Collection
The deafness gene panel test cost at Lupin Diagnostics starts at ₹21,600. Home sample collection is available for peripheral blood samples; CVS and amniotic fluid samples require collection at a clinical facility by a specialist.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 21600 |
| CHENNAI | 21600 |
| HYDERABAD | 21600 |
| KOLKATA | 21600 |
| NAVI MUMBAI | 21600 |
| PUNE | 21600 |
Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
Deafness gene panel test online booking is simple with Lupin Diagnostics:
- Select the test on the Lupin Diagnostics website.
- Choose your city and preferred time slot.
- Home collection may be available for eligible sample types such as peripheral blood or saliva. Specialised prenatal samples such as CVS or amniotic fluid are collected at authorised healthcare facilities under medical supervision.
- Receive your report via email or WhatsApp within the stipulated turnaround time.
Home Collection
Lupin Diagnostics offers home collection for eligible sample types across multiple cities. Specialised prenatal samples such as CVS or amniotic fluid require collection at authorised healthcare facilities. All samples are processed in NABL-accredited laboratories by experienced specialists. Digital reports are shared via email or WhatsApp once ready.
Frequently Asked Questions
The deafness gene panel test is a genetic test that examines a set of genes associated with hereditary hearing loss. It uses next-generation sequencing to look for gene variants that may cause or increase the risk of deafness. Results help doctors establish a genetic diagnosis and guide further management.
This test is recommended for individuals with congenital or unexplained hearing loss, infants who fail their newborn hearing screen, and people with a family history of hereditary deafness. Those planning to have children and wishing to understand their carrier status may also be referred for this test.
No fasting or special preparation is required. However, bringing a detailed clinical history, previous audiogram results, and a family history of hearing conditions is important, as this information is required for accurate interpretation of the genetic findings.
Results are typically available within 35 days. Genetic testing requires detailed laboratory analysis using next-generation sequencing, which takes longer than routine blood tests.
A pathogenic result confirms that a disease-causing gene variant has been identified. This can help clarify the cause of hearing loss and may have implications for other family members. Your doctor or genetic counsellor will explain the findings and recommend appropriate next steps.
A VUS means a gene variant was detected, but there is currently not enough scientific evidence to confirm whether it causes disease. Your doctor may recommend periodic re-analysis as more research becomes available, since the classification of a VUS can change over time.
The test identifies the presence of a gene variant, but it cannot always predict exactly how severe the hearing loss will be or how quickly it may progress. Outcomes can vary even among individuals with the same gene variant. Your audiologist and doctor will monitor your hearing separately through regular testing.
Deafness Gene Panel Test: Booking, Price, and Results
