GRHL2 Gene Deafness, autosomal dominant type 28 NGS Genetic Test
Short Name: GRHL2 DFNA28 NGS Test
Also known as: DFNA28 Genetic Test, GRHL2 Mutation Analysis, GRHL2 Gene Sequencing, Autosomal Dominant Deafness Type 28 DNA Test, GRHL2 Hereditary Hearing Loss Test
GRHL2 Gene Deafness, autosomal dominant type 28 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation, Bioinformatics Pipeline 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. Expedited processing may be available upon request. Reports are delivered digitally via online portal, email, and WhatsApp.. 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 the GRHL2 Gene Deafness NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the GRHL2 gene that cause autosomal dominant non-syndromic sensorineural hearing loss (DFNA28). This test enables definitive molecular diagnosis in individuals presenting with progressive hearing loss that follows an autosomal dominant inheritance pattern in the family. Confirmed genetic diagnosis helps clinicians determine prognosis, guide audiological management such as hearing aids or cochlear implants, inform family members about their carrier and affected status, and support informed reproductive counselling.
- Test Code
- 2304
- CPT Code
- 81479
- ICD Code
- H90.3
- 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. Expedited processing may be available upon request. Reports are delivered digitally via online portal, email, and WhatsApp.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Confirmation, Bioinformatics Pipeline Analysis
Sample Collection
No special preparation or fasting is required. Ensure the patient or guardian has provided written informed consent. A clinical history form and family pedigree chart should be completed prior to sample collection. Genetic counselling is recommended before testing to discuss implications, potential outcomes, and family planning considerations.
Method: Venipuncture or FTA Card Heel/Finger Prick
Laboratory Analysis
A trained phlebotomist will collect 3-5 mL of venous blood in an EDTA (lavender-top) tube using standard venipuncture technique. Alternatively, one drop of blood can be collected on an FTA card via heel prick (for neonates) or finger prick. The sample will be labelled with the patient's details and stored at ambient room temperature until dispatch.
Report Delivery
The sample will be dispatched to the DNA Labs India laboratory under controlled ambient temperature conditions. The extracted DNA will undergo library preparation, NGS sequencing, bioinformatics analysis, and clinical interpretation by a certified geneticist. Results will be available within 3 to 4 weeks and delivered via the online portal, email, and/or WhatsApp.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Expedited processing may be available upon request. Reports are delivered digitally via online portal, email, and WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the GRHL2 Gene Deafness NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the GRHL2 gene that cause autosomal dominant non-syndromic sensorineural hearing loss (DFNA28). This test enables definitive molecular diagnosis in individuals presenting with progressive hearing loss that follows an autosomal dominant inheritance pattern in the family. Confirmed genetic diagnosis helps clinicians determine prognosis, guide audiological management such as hearing aids or cochlear implants, inform family members about their carrier and affected status, and support informed reproductive counselling.
How to Prepare
- Collect 3-5 mL of venous blood in an EDTA (lavender top) vacutainer tube
- Alternatively, use the provided FTA card with one drop of blood from heel or finger prick
- Label the sample clearly with patient name, date of birth, and unique sample ID
- Do not freeze the sample; store and transport at ambient room temperature (15-30°C)
- Ensure the tube is gently mixed 8-10 times after collection to prevent clotting
- Dispatch the sample to the laboratory within 48 hours of collection
- Include the completed requisition form and signed consent form with the sample
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"GRHL2 gene mutations are a recognized cause of autosomal dominant non-syndromic hearing loss. Early genetic identification through NGS allows families to understand inheritance patterns, plan appropriate audiological interventions such as hearing aids or cochlear implants, and make informed reproductive decisions. Genetic counselling should accompany every test order to ensure families understand the implications of results for current and future generations."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample received without proper patient identification or labelling
- Clotted or haemolysed blood sample in EDTA tube
- Insufficient sample volume for DNA extraction
- Sample received without signed consent form or requisition
- Sample contaminated or leaked during transport
Understanding Your Results
Confirms the molecular diagnosis of autosomal dominant deafness type 28 (DFNA28). The hearing loss is heritable and each offspring of the affected individual has a 50% chance of inheriting the variant. Audiological management and genetic counselling are recommended.
Action: Consult with a clinical geneticist and audiologist for management planning and family counselling
Strong evidence supports this variant as disease-causing. Clinical correlation with audiometric findings and family history is advised. Segregation analysis in affected family members may strengthen the classification.
Action: Consult clinical geneticist; consider family member testing for segregation analysis
Insufficient evidence currently exists to classify this variant as pathogenic or benign. This result alone cannot confirm or exclude the diagnosis. Periodic reclassification as new scientific data becomes available is recommended.
Action: Clinical correlation recommended; consult geneticist for interpretation in context; repeat analysis may be warranted in the future
No disease-causing mutation was identified in the GRHL2 gene. This result does not exclude a genetic cause of hearing loss, as mutations in other genes (e.g., GJB2, TMC1, SLC26A4, MYO7A) may be responsible. Multi-gene panel or whole exome sequencing may be considered.
Action: Discuss with clinical geneticist regarding further testing options including comprehensive hearing loss gene panels
Consult a clinical geneticist or an ENT specialist with expertise in hereditary hearing loss if you or your child experience progressive or unexplained hearing loss, especially with a family history of deafness. Immediate consultation is recommended if newborn hearing screening results are abnormal, if there is sudden worsening of hearing, or if you are planning a pregnancy and have a family history of autosomal dominant hearing loss. A genetic counsellor can help interpret test results and guide family planning decisions.
Limitations
- ⚠This test targets the GRHL2 gene only and will not detect mutations in other hearing loss-associated genes
- ⚠Deep intronic mutations, regulatory region variants, and mitochondrial DNA mutations are not fully covered
- ⚠Variants of Uncertain Significance (VUS) may be reported and require periodic reclassification
- ⚠This test does not detect large chromosomal rearrangements beyond the sensitivity of the NGS platform
- ⚠A negative result does not completely exclude a genetic cause of hearing loss as other genes may be involved
- ⚠Mosaicism at low levels may not be detected by standard NGS pipeline
Risks & Considerations
- ●Minimal risk associated with blood collection: minor bruising, slight pain, or fainting at the venipuncture site
- ●Psychological impact of genetic diagnosis on the patient and family members
- ●Potential identification of Variants of Uncertain Significance (VUS) that may cause anxiety without definitive clinical guidance
- ●Risk of genetic discrimination; India's genetic data should be handled per applicable privacy regulations
Interfering Factors
- ●Degraded or insufficient DNA quality may affect sequencing accuracy
- ●Blood samples collected in improper anticoagulant tubes may yield poor results
- ●Recent blood transfusions within 4 weeks can affect genomic DNA composition
- ●Sample contamination during collection or transport may compromise results
- ●Presence of pseudogenes or highly homologous regions may require supplementary Sanger confirmation
Compare With Similar Tests
| Test | GRHL2 Gene Deafness, autosomal dominant type 28 NGS Genetic Test | GJB2 Gene Deafness NGS Test | Comprehensive Hearing Loss Gene Panel (100+ genes) | SLC26A4 Gene Deafness NGS Test | Whole Exome Sequencing (WES) |
|---|---|---|---|---|---|
| Comparison | GRHL2 Gene Deafness, autosomal dominant type 28 NGS Genetic Test |
Frequently Asked Questions
What is the GRHL2 Gene Deafness, autosomal dominant type 28 NGS Genetic Test?
What is autosomal dominant deafness type 28 (DFNA28)?
Who should consider getting the GRHL2 gene test?
What sample is required for the GRHL2 Gene Deafness NGS Genetic Test?
How much does the GRHL2 Gene Deafness NGS Genetic Test cost at DNA Labs India?
How long does it take to get the results?
What does a positive (pathogenic variant detected) result mean?
What does a negative result mean?
Does DNA Labs India provide raw sequencing data?
Is genetic counselling required before taking this test?
Is home sample collection available for this test?
Can this test be done for newborns and children?
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