DSPP Gene Deafness, autosomal dominant type 39, with dentinogenesis type 1 NGS Genetic Test
Short Name: DSPP Gene Deafness NGS Test
Also known as: DFNA39 Genetic Test, DSPP Gene Mutation Analysis, Dentinogenesis Imperfecta Type 1 with Deafness NGS Test, DSPP Gene Sequencing Test, Autosomal Dominant Deafness Type 39 DNA Test
DSPP Gene Deafness, autosomal dominant type 39, with dentinogenesis type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation (if required) 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 identify pathogenic or likely pathogenic mutations in the DSPP gene that cause autosomal dominant deafness type 39 (DFNA39) and dentinogenesis imperfecta type 1. This test aids in confirming a clinical diagnosis, differentiating DSPP-related deafness from other genetic and non-genetic forms of hearing loss, enabling genetic counseling for affected families, guiding treatment and management planning, and supporting informed reproductive decision-making for carriers of DSPP mutations.
- Test Code
- 2314
- ICD Code
- H90.5, K00.5
- 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 (if required)
Sample Collection
Genetic counseling is recommended prior to sample collection. A detailed clinical history of the patient, including onset and progression of hearing loss, dental findings, and family history, should be documented. A pedigree chart of family members affected with hearing loss or dental abnormalities should be prepared by the referring physician or genetic counselor. No fasting is required before sample collection. Inform the laboratory of any recent blood transfusions or ongoing treatments.
Method: Venipuncture
Laboratory Analysis
Standard venipuncture is performed to collect 3 to 5 mL of peripheral blood in an EDTA (lavender top) vacutainer. Alternatively, previously extracted DNA in appropriate buffer or one drop of blood on an FTA card may be submitted. The sample should be properly labeled with the patient's name, date of birth, and unique identification number.
Report Delivery
The blood or DNA sample is transported at ambient room temperature to the testing laboratory. Samples should be dispatched within 24 hours of collection. Post-test genetic counseling is recommended to help the patient and family understand the results and their clinical implications.
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 identify pathogenic or likely pathogenic mutations in the DSPP gene that cause autosomal dominant deafness type 39 (DFNA39) and dentinogenesis imperfecta type 1. This test aids in confirming a clinical diagnosis, differentiating DSPP-related deafness from other genetic and non-genetic forms of hearing loss, enabling genetic counseling for affected families, guiding treatment and management planning, and supporting informed reproductive decision-making for carriers of DSPP mutations.
How to Prepare
- Collect 3 to 5 mL of peripheral blood by venipuncture in an EDTA (lavender top) vacutainer
- Alternatively, submit extracted DNA or one drop of blood on an FTA card
- Label the sample clearly with patient name, date of birth, and unique identification number
- Transport the sample at ambient room temperature (15°C to 25°C)
- Dispatch the sample to the laboratory within 24 hours of collection
- Include completed test requisition form with clinical history and family history details
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for DSPP gene mutations is essential for individuals presenting with sensorineural hearing loss accompanied by dental abnormalities such as dentinogenesis imperfecta. As a medical geneticist, I strongly recommend DSPP gene analysis for any patient with progressive hearing loss and characteristic dental findings, as well as for family members of known mutation carriers. The autosomal dominant inheritance pattern of DFNA39 means each child of an affected parent has a 50% chance of inheriting the condition. Early genetic confirmation allows for timely coordination between ENT specialists, audiologists, and dental professionals to implement appropriate management strategies, including hearing aids or cochlear implants and dental restoration. Pre-test and post-test genetic counseling are strongly advised to help patients and families understand the implications of results, recurrence risks, and available management options. For families planning pregnancy, this test provides critical information for informed reproductive decision-making, including consideration of prenatal diagnosis or preimplantation genetic testing."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed, clotted, or visibly contaminated blood samples
- Insufficient sample volume for DNA extraction
- Samples without proper labeling or identification
- Samples received without completed requisition form or clinical history
- FTA cards that are not properly dried or are contaminated
- DNA samples with extremely low concentration or poor quality (A260/280 ratio outside 1.7–2.0)
Understanding Your Results
No Pathogenic Variant Detected
No mutations in the DSPP gene were identified. This reduces the likelihood of DSPP-related deafness or dentinogenesis imperfecta but does not completely exclude a genetic cause, as mutations in other genes may be responsible.
Pathogenic Variant Detected
A known disease-causing mutation was identified in the DSPP gene. This result is consistent with a diagnosis of autosomal dominant deafness type 39 (DFNA39) and/or dentinogenesis imperfecta type 1. Genetic counseling is recommended to discuss implications and recurrence risk.
Likely Pathogenic Variant Detected
A variant likely to be disease-causing was identified. Clinical correlation and family segregation studies may be recommended to strengthen the association.
Variant of Uncertain Significance (VUS)
A variant was detected that cannot currently be classified as pathogenic or benign. This result should not be used for clinical decision-making. Follow-up studies, family testing, and periodic reclassification may be warranted.
Likely Benign Variant Detected
A variant was detected that is unlikely to be associated with disease. This result generally does not support a diagnosis of DSPP-related deafness or dentinogenesis imperfecta.
Consult a doctor or genetic counselor if you or your child experience progressive or unexplained hearing loss, especially when accompanied by dental abnormalities such as discolored or fragile teeth. Seek medical evaluation if there is a family history of autosomal dominant hearing loss or dentinogenesis imperfecta. After receiving test results, a genetic counselor or clinical geneticist should be consulted to discuss the implications, recurrence risks, management options, and family planning considerations.
Limitations
- ⚠This test may not detect large deletions, duplications, or copy number variations in the DSPP gene unless specifically analyzed
- ⚠Deep intronic mutations and regulatory region variants outside the targeted sequencing area may not be identified
- ⚠Variants of uncertain significance (VUS) may be detected and may require further investigation
- ⚠This test does not assess mutations in other genes associated with non-syndromic or syndromic hearing loss
- ⚠A negative result does not completely exclude a genetic cause for the patient's hearing loss or dental condition
- ⚠Mosaicism at low levels may not be detected
Risks & Considerations
- ●Minimal physical risk associated with standard blood draw (minor bruising, discomfort at needle site)
- ●Psychological or emotional impact related to genetic test results, particularly if a pathogenic variant is identified
- ●Potential implications for insurance or employment, depending on local regulations regarding genetic information
- ●Possibility of receiving a variant of uncertain significance (VUS) result, which may cause anxiety without providing a definitive answer
Interfering Factors
- ●Degraded or low-quality DNA may affect sequencing accuracy
- ●Recent blood transfusion (within the past 3 months) may interfere with results
- ●Sample contamination during collection or transport
- ●Insufficient sample volume or improper storage conditions
Compare With Similar Tests
| Test | DSPP Gene Deafness, autosomal dominant type 39, with dentinogenesis type 1 NGS Genetic Test | GJB2 Gene Nonsyndromic Hearing Loss NGS Genetic Test | Comprehensive Hearing Loss Gene Panel NGS Test | Whole Exome Sequencing (WES) Genetic Test | TECTA Gene Autosomal Dominant Deafness NGS Genetic Test |
|---|---|---|---|---|---|
| Comparison | DSPP Gene Deafness, autosomal dominant type 39, with dentinogenesis type 1 NGS Genetic Test |
Frequently Asked Questions
What is the DSPP Gene Deafness NGS Genetic Test?
What conditions are caused by DSPP gene mutations?
How is the DSPP gene test performed?
What sample types are accepted for this test?
How long does it take to receive the results?
What is the cost of the DSPP Gene NGS Genetic Test in India?
Is DSPP gene deafness hereditary?
Can this test detect all mutations in the DSPP gene?
Who should consider getting this genetic test?
Is home sample collection available for this test?
What is the inheritance pattern of DSPP gene deafness?
Does a positive result mean my child will definitely develop hearing loss?
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