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DNA Labs India

GCDH Gene Glutaric acidemia type 1 NGS Genetic Test

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GCDH Gene Glutaric acidemia type 1 NGS Genetic Test

Short Name: GCDH Gene GA1 NGS Test

Also known as: Glutaric Aciduria Type 1, GA1

GCDH Gene Glutaric acidemia type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Genetic Sequencing on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3-4 weeks. Free home collection in 300+ cities across India.

Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose Glutaric Acidemia Type 1 by detecting mutations in the GCDH gene, enabling early treatment, genetic counseling, and family planning.

Test Code
2011
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3-4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Genetic Sequencing
Step 1

Sample Collection

No specific preparation required. Provide clinical and family history.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample is drawn from a vein in the arm using standard phlebotomy techniques.

Step 3

Report Delivery

Apply pressure to the site to prevent bleeding. No special aftercare needed.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Inform the doctor about any medications or health conditions.
2
During the Test:The test involves a simple blood draw, typically taking 5-10 minutes.
3
After the Test:Resume normal activities. Monitor for any discomfort at the collection site.

About This Test

Who Should Get This Test

To diagnose Glutaric Acidemia Type 1 by detecting mutations in the GCDH gene, enabling early treatment, genetic counseling, and family planning.

How to Prepare

  • Ensure proper identification
  • Use sterile equipment
  • Label sample correctly
  • Store at ambient temperature

Doctor's Notes

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

"Early genetic testing for GA1 is crucial to prevent developmental complications and guide timely interventions, especially in families with a history of metabolic disorders."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture

Sample Stability

Stable for 7 days at room temperature
For longer storage, use extracted DNA
Sample Rejection Criteria:
  • Hemolyzed sample
  • Improper labeling
  • Insufficient volume

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the GCDH gene associated with GA1.
Normal: No variants detected - GA1 unlikely but clinical correlation needed
Pathogenic variant detected - Confirms GA1 diagnosis
Variant of uncertain significance - Further testing recommended
⚠️ When to Consult a Doctor:

If symptoms such as developmental delays or seizures occur, or if there is a family history of GA1, consult a genetic specialist immediately.

Limitations

  • May not detect all possible genetic variants
  • Cannot determine severity of disease solely from genotype
  • Requires genetic counseling for interpretation

Risks & Considerations

  • Minimal risk from blood draw: bruising, soreness, or infection

Interfering Factors

  • Contaminated DNA sample
  • Insufficient sample volume
  • Recent blood transfusion may affect results

Frequently Asked Questions

What is Glutaric Acidemia Type 1 (GA1)?
GA1 is a rare genetic disorder where the body cannot break down certain amino acids, leading to buildup of harmful acids that can cause brain damage.
What is the GCDH gene?
The GCDH gene provides instructions for making an enzyme that helps break down amino acids; mutations cause GA1.
How is GA1 diagnosed?
Diagnosis involves biochemical tests and genetic testing to identify mutations in the GCDH gene.
What are the symptoms of GA1?
Symptoms include developmental delays, seizures, dystonia, poor feeding, vomiting, and irritability.
What is NGS genetic testing?
NGS (Next-Generation Sequencing) is an advanced method that analyzes multiple genes quickly and accurately for mutations.
What is the cost of the GCDH Gene NGS Test?
The test costs INR 20000 at DNA Labs India, with free home collection available.
Is the test painful?
No, it involves a standard blood draw which may cause minor discomfort.
How long does it take to get results?
Results are typically available in 3-4 weeks.
Can GA1 be treated?
Yes, early diagnosis allows for dietary management and supplements to prevent complications.
Is genetic testing necessary for GA1?
Yes, it confirms diagnosis and helps in family planning and genetic counseling.
Are there any risks to the test?
Risks are minimal, similar to any blood test, such as bruising or infection.
Where is this test available?
It is available across India with free home sample collection in major cities.
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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LIMS Integration

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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