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DNAJC3 Gene Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus NGS Genetic Test

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DNAJC3 Gene Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus NGS Genetic Test

Short Name: DNAJC3 Gene Ataxia NGS Test

Also known as: DNAJC3-related ataxia with hearing loss and diabetes

DNAJC3 Gene Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are typically available within 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this test is to detect mutations in the DNAJC3 gene to diagnose combined cerebellar and peripheral ataxia associated with hearing loss and diabetes mellitus.

Test Code
1509
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are typically available within 3 to 4 weeks after sample receipt.
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Genetic counseling is recommended prior to testing. Provide complete clinical and family history.

Method: Venipuncture with home collection option

Step 2

Laboratory Analysis

Standard blood draw procedure. For home collection, a trained phlebotomist will visit.

Step 3

Report Delivery

Blood sample is transported to the laboratory for DNA extraction and analysis.

Timeline: Reports are typically available within 3 to 4 weeks after sample receipt.

Patient Instructions

1
Before the Test:Undergo genetic counseling and provide informed consent. Share detailed medical and family history.
2
During the Test:A blood sample is collected, usually from a vein in the arm.
3
After the Test:Sample is analyzed using NGS technology. Results are reviewed by a geneticist.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the DNAJC3 gene to diagnose combined cerebellar and peripheral ataxia associated with hearing loss and diabetes mellitus.

How to Prepare

  • No fasting required
  • Bring identification and prescription if available
  • Inform about any medications or supplements
  • Consent form for genetic testing must be signed

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Early genetic testing for DNAJC3 mutations can guide management, inform family planning, and improve patient outcomes through targeted interventions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture with home collection option

Sample Stability

Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Sample without proper labeling
  • Insufficient sample volume
  • Expired collection tubes

Understanding Your Results

Genetic test results should be interpreted by a qualified geneticist or healthcare provider in the context of clinical findings and family history.
📊

Positive

Pathogenic variant in DNAJC3 gene identified, confirming diagnosis of DNAJC3 gene ataxia.

📊

Negative

No pathogenic variants detected; symptoms may be due to other causes.

📊

Variant of Uncertain Significance (VUS)

A genetic variant was found but its clinical significance is unknown; further testing or family studies may be needed.

⚠️ When to Consult a Doctor:

Consult a neurologist or geneticist if you experience symptoms such as unexplained ataxia, hearing loss, or diabetes mellitus, especially with a family history.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Results may include variants of uncertain significance
  • ⚠Does not evaluate other ataxia-related genes
  • ⚠Clinical correlation required for diagnosis

Risks & Considerations

  • ●Minor pain or bruising at blood draw site
  • ●Psychological distress from genetic diagnosis
  • ●Potential for incidental findings

Interfering Factors

  • ●Hemolyzed blood sample
  • ●Insufficient DNA quantity
  • ●Sample contamination
  • ●Incorrect sample handling

Compare With Similar Tests

TestDNAJC3 Gene Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus NGS Genetic TestSpinocerebellar Ataxia PanelWhole Exome SequencingClinical Neurological Examination
ComparisonDNAJC3 Gene Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus NGS Genetic Test

Frequently Asked Questions

What is DNAJC3 Gene Ataxia?
It is a rare genetic disorder characterized by cerebellar and peripheral ataxia, hearing loss, and diabetes mellitus due to mutations in the DNAJC3 gene.
What are the common symptoms?
Symptoms include coordination problems, difficulty walking, speech difficulties, hearing loss, and diabetes.
How is the test performed?
The test uses Next-Generation Sequencing (NGS) to analyze the DNAJC3 gene from a blood sample.
What is the cost of the test?
The test costs INR 20,000 at DNA Labs India.
Is home sample collection available?
Yes, free home collection is available in many cities across India.
How long does it take to get results?
Results are typically delivered within 3 to 4 weeks.
Is the test covered by insurance?
It may be eligible for reimbursement depending on your insurance plan; please check with your provider.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the DNAJC3 gene, confirming the diagnosis.
Can children undergo this test?
Yes, the test is suitable for all ages, but genetic counseling is recommended.
Why is genetic counseling important?
Genetic counseling helps understand the implications of the test results for the individual and family.
Are there any risks associated with the test?
The test itself has minimal risks, mainly from blood draw, but genetic results can have emotional impacts.
How accurate is the NGS genetic test?
NGS is highly accurate for detecting known mutations, but interpretation requires expert analysis.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

LIMS Integration

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Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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