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ABAT Gene GABA-transaminase deficiency NGS Genetic Test

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ABAT Gene GABA-transaminase deficiency NGS Genetic Test

Short Name: ABAT Gene GABA-transaminase Deficiency Test

Also known as: ABAT Gene Sequencing Test, GABA-transaminase deficiency NGS Test

ABAT Gene GABA-transaminase deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood samples. Results in 3 to 4 weeks from sample collection. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

This test identifies mutations in the ABAT gene responsible for GABA-transaminase deficiency, aiding in diagnosis, management, and genetic counseling for neurological symptoms.

Test Code
1999
Price
₹20,000
Sample Type
Blood
Result Time
3 to 4 weeks from sample collection
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation required. Provide clinical history and family pedigree chart as part of pre-test genetic counseling.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in your arm by a trained phlebotomist using aseptic technique.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Minor bruising or discomfort may occur but resolves quickly.

Timeline: 3 to 4 weeks from sample collection

Patient Instructions

1
Before the Test:Complete medical and family history documentation and genetic counseling are required.
2
During the Test:Blood draw procedure is quick, taking only a few minutes.
3
After the Test:Resume normal activities. Reports will be available online in 3-4 weeks.

About This Test

Who Should Get This Test

This test identifies mutations in the ABAT gene responsible for GABA-transaminase deficiency, aiding in diagnosis, management, and genetic counseling for neurological symptoms.

How to Prepare

  • Ensure the patient is well-hydrated
  • Use sterile equipment
  • Label the sample correctly with patient details

Doctor's Notes

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

"Early genetic testing for ABAT gene mutations can guide management of neurological symptoms and family planning decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Sample Volume5 mL
ContainerEDTA Tube
Collection MethodVenipuncture

Sample Stability

Stable at room temperature for 24 hours
Store at 2-8°C for up to 7 days if delayed
Sample Rejection Criteria:
  • Hemolyzed or lipemic sample
  • Insufficient volume
  • Improper labeling or container

Understanding Your Results

Results are interpreted by analyzing the ABAT gene for pathogenic variants. A positive result confirms diagnosis, while negative results may require further testing.
Pathogenic variant detected: Indicates GABA-transaminase deficiency; consult geneticist for management
No pathogenic variant detected: Consider other causes; clinical correlation needed
Variant of uncertain significance: May require family studies or repeat testing
⚠️ When to Consult a Doctor:

If symptoms like seizures, developmental delay, or abnormal muscle tone are present, or if results indicate a pathogenic variant, consult a geneticist or neurologist immediately.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical presentation

Risks & Considerations

  • ●Minor pain or bruising at blood draw site
  • ●Very low risk of infection or hematoma

Interfering Factors

  • ●Contaminated blood sample
  • ●Degraded DNA
  • ●Recent blood transfusion

Compare With Similar Tests

TestABAT Gene GABA-transaminase deficiency NGS Genetic TestMetabolic Disorder Genetic PanelNeurological Sequencing Panel
ComparisonABAT Gene GABA-transaminase deficiency NGS Genetic Test

Frequently Asked Questions

What is ABAT Gene GABA-transaminase deficiency?
It is a rare genetic disorder caused by mutations in the ABAT gene, leading to impaired breakdown of GABA neurotransmitter and neurological symptoms.
What are the common symptoms of this disorder?
Symptoms include developmental delay, intellectual disability, seizures, abnormal muscle tone, behavioral issues, anxiety, and depression.
How is the test performed?
The test uses Next-Generation Sequencing (NGS) to analyze a blood sample for mutations in the ABAT gene.
What is the cost of the test?
The cost at DNA Labs India is INR 20,000, including home sample collection across India.
Is home sample collection available?
Yes, free home collection is offered in numerous cities when booking online.
How accurate is this genetic test?
The test uses advanced NGS technology for high accuracy, but results should be interpreted with genetic counseling.
What do the test results mean?
Results indicate presence or absence of pathogenic ABAT gene variants; a positive result confirms diagnosis, requiring specialist consultation.
Who should consider getting this test?
Individuals with symptoms like seizures or developmental delay, or those with a family history of the disorder.
Is any preparation needed before the test?
No fasting is required, but providing clinical history and family pedigree is essential for genetic counseling.
How long does it take to receive the results?
Reports are typically available in 3 to 4 weeks after sample collection.
Is the test covered by insurance?
Generally, genetic tests like this are not covered by insurance; check with your provider for specifics.
What are the risks associated with the test?
Risks are minimal and include minor pain or bruising from blood draw, with very low risk of infection.
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

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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