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DNAJC19 Gene 3-methylglutaconic aciduria type 5 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

DNAJC19 Gene 3-methylglutaconic aciduria type 5 NGS Genetic Test

Short Name: DNAJC19 Gene Test

Also known as: Costeff syndrome

DNAJC19 Gene 3-methylglutaconic aciduria type 5 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next Generation Sequencing) on Blood, Extracted DNA, One drop Blood on FTA Card samples. Results in 3-4 weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

To identify mutations in the DNAJC19 gene for definitive diagnosis of 3-methylglutaconic aciduria type 5 (Costeff syndrome), aiding in clinical management, genetic counseling, and family planning.

Test Code
4627
Price
₹20,000
Sample Type
Blood, Extracted DNA, One drop Blood on FTA Card
Result Time
3-4 weeks
Fasting Required
No
Method
NGS (Next Generation Sequencing)
Step 1

Sample Collection

No special preparation is needed. Provide clinical history and family pedigree if available.

Method: Venipuncture or Saliva

Step 2

Laboratory Analysis

Blood sample will be drawn by a trained phlebotomist using standard venipuncture techniques.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store sample as instructed.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Provide detailed clinical history and family pedigree. No fasting required.
2
During the Test:Sample is processed in the lab using NGS technology to sequence the DNAJC19 gene.
3
After the Test:Report is generated and delivered via online portal, email, or WhatsApp within 3-4 weeks.

About This Test

Who Should Get This Test

To identify mutations in the DNAJC19 gene for definitive diagnosis of 3-methylglutaconic aciduria type 5 (Costeff syndrome), aiding in clinical management, genetic counseling, and family planning.

How to Prepare

  • Ensure sample is collected in appropriate container
  • Label sample correctly with patient details
  • Transport sample at ambient temperature unless specified

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Early genetic diagnosis of Costeff syndrome is essential for timely intervention, management, and family genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube, FTA card
Collection MethodVenipuncture or Saliva

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of mutations in the DNAJC19 gene. Genetic counseling is recommended for understanding implications.
Positive: Pathogenic variant detected, confirming diagnosis
Negative: No pathogenic variant detected, but clinical correlation needed
Variant of Uncertain Significance (VUS): Further testing or family studies may be required
⚠️ When to Consult a Doctor:

Consult a doctor if symptoms persist, for genetic counseling, or to discuss test results and management options.

Limitations

  • May not detect all types of mutations (e.g., large deletions)
  • Requires genetic counseling for interpretation
  • Results should be correlated with clinical findings

Risks & Considerations

  • Minor bruising at puncture site
  • Rare risk of infection
  • Psychological impact of results

Interfering Factors

  • Sample contamination
  • Degraded DNA
  • Improper sample storage

Compare With Similar Tests

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Frequently Asked Questions

What is the DNAJC19 Gene Test?
It is an NGS genetic test that identifies mutations in the DNAJC19 gene to diagnose 3-methylglutaconic aciduria type 5 (Costeff syndrome).
What are the symptoms of 3-methylglutaconic aciduria type 5?
Symptoms include muscle weakness, developmental delay, hypotonia, vision problems, intellectual disability, seizures, and brain abnormalities.
How is the test performed?
The test uses Next Generation Sequencing on a blood, extracted DNA, or FTA card sample to analyze the DNAJC19 gene.
What is the cost of the DNAJC19 Gene Test?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available.
Is home sample collection available?
Yes, free home collection is offered across many cities in India for online bookings.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the DNAJC19 gene, confirming the diagnosis of Costeff syndrome.
What does a negative result mean?
A negative result means no pathogenic variants were detected, but clinical correlation is necessary as symptoms may have other causes.
Is genetic counseling recommended?
Yes, genetic counseling is strongly recommended before and after testing to understand implications and family risks.
Can this test be used for prenatal diagnosis?
Yes, if a familial mutation is known, prenatal testing may be possible through specialized procedures.
What are the risks of the test?
Risks are minimal, including minor bruising at the puncture site and potential psychological impact of results.
How do I prepare for the test?
No special preparation is needed. Provide clinical history and family pedigree if available.
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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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.

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Your Data Privacy

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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