SLC17A8 Gene Deafness, autosomal dominant type 25 NGS Genetic Test
Short Name: SLC17A8 DFNA25 NGS Test
Also known as: DFNA25 Genetic Test, SLC17A8 Hearing Loss Test, VGLUT3-Related Deafness Test, Autosomal Dominant Deafness Type 25 Test, SLC17A8 Mutation Analysis
SLC17A8 Gene Deafness, autosomal dominant type 25 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 Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports are delivered via the online portal, email, and WhatsApp. Urgent cases may be prioritized upon request.. 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 the SLC17A8 Gene Deafness NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the SLC17A8 gene that cause autosomal dominant sensorineural hearing loss (DFNA25). This test helps confirm a clinical diagnosis of hereditary deafness, enables targeted genetic counseling, guides hearing rehabilitation decisions, and assists in family planning by determining the risk of transmission to offspring. The test may also be used to differentiate genetic causes of hearing loss from acquired or environmental causes.
- Test Code
- 2310
- 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. Reports are delivered via the online portal, email, and WhatsApp. Urgent cases may be prioritized upon request.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
A genetic counseling session is recommended before testing. Provide detailed clinical history including onset, progression, and severity of hearing loss. A comprehensive family history and pedigree chart of affected family members should be prepared. Inform the laboratory of any recent blood transfusions or bone marrow transplants.
Method: Venipuncture / FTA Card Blood Spot
Laboratory Analysis
A blood sample of approximately 3 to 5 mL will be collected via venipuncture into an EDTA (purple top) tube. Alternatively, one drop of blood on an FTA card or previously extracted DNA may be submitted. The procedure is quick and minimally invasive, typically taking less than five minutes.
Report Delivery
After sample collection, gentle pressure will be applied to the puncture site with a cotton swab. The blood sample will be properly labeled, stored at ambient room temperature, and transported to the laboratory for DNA extraction and NGS analysis. Patients may resume normal activities immediately.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports are delivered via the online portal, email, and WhatsApp. Urgent cases may be prioritized upon request.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of the SLC17A8 Gene Deafness NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the SLC17A8 gene that cause autosomal dominant sensorineural hearing loss (DFNA25). This test helps confirm a clinical diagnosis of hereditary deafness, enables targeted genetic counseling, guides hearing rehabilitation decisions, and assists in family planning by determining the risk of transmission to offspring. The test may also be used to differentiate genetic causes of hearing loss from acquired or environmental causes.
How to Prepare
- Blood sample must be collected in an EDTA (purple top) vacutainer tube
- Ensure proper labeling of the sample with patient name, date of birth, and sample ID
- Store the sample at ambient room temperature; do not freeze the blood sample
- Transport the sample to the laboratory within 48 hours of collection
- If using an FTA card, allow the blood spot to air dry completely before packaging
- Include the signed consent form and clinical history with the sample
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"As an obstetrician-gynecologist, I recommend SLC17A8 gene testing for families with a documented history of hereditary hearing loss, particularly when couples seek preconception or prenatal genetic counseling. Autosomal dominant deafness type 25 carries a 50 percent risk of transmission to offspring. Identifying the causative SLC17A8 mutation enables informed reproductive decisions, potential prenatal or preimplantation genetic diagnosis, and early hearing intervention for affected children. I advise all patients with progressive sensorineural hearing loss and a positive family history to pursue comprehensive genetic evaluation alongside ENT assessment."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Severely hemolyzed or clotted blood samples
- Insufficient sample volume for DNA extraction
- Improperly labeled or unlabeled samples
- Samples received beyond the stability window
- Contaminated or leaking sample containers
Understanding Your Results
Pathogenic or Likely Pathogenic Variant Detected
A disease-causing mutation in the SLC17A8 gene has been identified, confirming a genetic diagnosis of autosomal dominant deafness type 25 (DFNA25). Genetic counseling, hearing rehabilitation, and family cascade testing are recommended.
No Pathogenic Variant Detected
No pathogenic or likely pathogenic variants were identified in the SLC17A8 gene. This result does not completely exclude a genetic cause for hearing loss, as mutations in other genes may be responsible. Additional genetic testing or a comprehensive hearing loss gene panel may be considered.
Variant of Uncertain Significance (VUS)
A variant in the SLC17A8 gene was detected, but current evidence is insufficient to classify it as pathogenic or benign. Clinical correlation, family segregation studies, and periodic re-evaluation as new data become available are recommended. A VUS result should not be used for clinical decision-making without further evaluation.
Consult a clinical geneticist or ENT specialist if you or a family member experiences progressive hearing loss, has a family history of hereditary deafness, or if you wish to understand the genetic basis of hearing loss for family planning purposes. Early consultation is especially important for children with unexplained hearing impairment and for couples with a family history of autosomal dominant hearing disorders planning to have children.
Limitations
- ⚠This test analyzes only the SLC17A8 gene and does not screen for mutations in other hearing loss-associated genes unless a panel is ordered
- ⚠Deep intronic mutations and large structural rearrangements may not be fully detected by standard NGS sequencing
- ⚠Novel or rare variants may be classified as Variants of Uncertain Significance (VUS) requiring further investigation
- ⚠Negative results do not completely exclude a genetic basis for hearing loss as other genes may be involved
- ⚠Results should be interpreted in conjunction with clinical findings and family history by a qualified geneticist
Risks & Considerations
- ●Minor bruising or discomfort at the venipuncture site
- ●Slight risk of lightheadedness during or after blood draw
- ●Rare risk of infection at the needle insertion site
- ●Psychological impact of genetic diagnosis; genetic counseling is recommended before and after testing
Interfering Factors
- ●Previous bone marrow or stem cell transplant may yield donor DNA results
- ●Recent blood transfusion (within the past 3 months) may interfere with DNA analysis
- ●Highly degraded or insufficient DNA quality may affect sequencing accuracy
- ●Sample contamination during collection or transport
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Frequently Asked Questions
What is SLC17A8 gene deafness?
What is autosomal dominant deafness type 25 (DFNA25)?
What are the symptoms of SLC17A8 gene deafness?
How is SLC17A8 gene deafness diagnosed?
What sample is required for the SLC17A8 gene NGS test?
How long does it take to get the results of this genetic test?
Is genetic counseling recommended before this test?
What is the cost of the SLC17A8 Gene Deafness NGS Genetic Test in India?
Is home sample collection available for this test?
What is Next-Generation Sequencing (NGS) technology?
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