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AARS1 Gene Early infantile epileptic encephalopathy type 29 NGS Genetic Test

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AARS1 Gene Early infantile epileptic encephalopathy type 29 NGS Genetic Test

Short Name: AARS1 EIEE29 NGS Test

Also known as: EIEE29, AARS1-Related Encephalopathy, Alanyl-tRNA Synthetase Deficiency

AARS1 Gene Early infantile epileptic encephalopathy type 29 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood samples. Results in Results are typically available within 3 to 4 weeks after sample receipt at the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestInfants🏠 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

The purpose of the AARS1 Gene NGS Genetic Test is to detect mutations in the AARS1 gene associated with Early Infantile Epileptic Encephalopathy Type 29. It aids in accurate diagnosis, prognosis assessment, family risk evaluation, and genetic counseling for affected individuals and families.

Test Code
1600
Price
₹20,000
Sample Type
Blood
Result Time
Results are typically available within 3 to 4 weeks after sample receipt at the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Genetic counseling is recommended before testing. Provide detailed clinical history and family pedigree chart. Informed consent must be obtained.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm by a trained phlebotomist. The process is minimally invasive and quick.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Resume normal activities immediately. Monitor for any rare side effects like bruising.

Timeline: Results are typically available within 3 to 4 weeks after sample receipt at the laboratory.

Patient Instructions

1
Before the Test:Consult a clinical geneticist for pre-test counseling. Provide informed consent and detailed medical and family history.
2
During the Test:The test involves extracting DNA from a blood sample and sequencing the AARS1 gene using next-generation sequencing (NGS) technology to identify mutations.
3
After the Test:Results are available in 3-4 weeks. A genetic counselor will explain the findings, implications, and next steps for management or family planning.

About This Test

Who Should Get This Test

The purpose of the AARS1 Gene NGS Genetic Test is to detect mutations in the AARS1 gene associated with Early Infantile Epileptic Encephalopathy Type 29. It aids in accurate diagnosis, prognosis assessment, family risk evaluation, and genetic counseling for affected individuals and families.

How to Prepare

  • Ensure patient is well-hydrated before sample collection
  • Avoid strenuous physical activity prior to the test
  • Label the sample correctly with patient details and test requisition
  • Transport sample to the lab within the specified stability period

Doctor's Notes

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

"Genetic testing for conditions like EIEE29 is essential for early intervention and family planning. Consult a geneticist for personalized advice."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Sample Volume5 mL
ContainerEDTA Tube
Collection MethodVenipuncture

Sample Stability

Room Temperature (18-25°C)
Refrigerated (2-8°C)
Sample Rejection Criteria:
  • Insufficient sample volume (less than 2 mL)
  • Hemolyzed, clotted, or contaminated samples
  • Incorrect sample type (not whole blood in EDTA tube)
  • Unlabeled or mislabeled samples

Understanding Your Results

Results indicate the presence or absence of mutations in the AARS1 gene. Positive results may confirm EIEE29, while negative results do not entirely rule out the condition due to test limitations. Genetic counseling is essential for result interpretation.
📊

Negative

No pathogenic variants detected in the AARS1 gene. Clinical correlation is advised, and other genetic or non-genetic causes should be considered.

📊

Positive

Pathogenic or likely pathogenic variants identified. This confirms a diagnosis of EIEE29, and genetic counseling is recommended for family planning and management.

📊

Variant of Uncertain Significance (VUS)

A variant with unclear clinical significance is detected. Further testing, family studies, or clinical follow-up may be required for clarification.

⚠️ When to Consult a Doctor:

If your child experiences seizures, developmental delays, poor muscle tone, or other neurological symptoms, consult a pediatric neurologist or clinical geneticist immediately for evaluation and possible genetic testing.

Limitations

  • ⚠May not detect all types of genetic variants, such as deep intronic mutations
  • ⚠Does not exclude other genetic or non-genetic causes of epilepsy
  • ⚠Results should be interpreted in conjunction with clinical findings and family history
  • ⚠Variants of uncertain significance (VUS) may be identified, requiring further evaluation

Risks & Considerations

  • ●Minimal risk from blood draw: possible bruising, soreness, or infection at the puncture site
  • ●Rare allergic reactions to antiseptic used during collection

Interfering Factors

  • ●Hemolyzed blood samples
  • ●Contaminated DNA samples
  • ●Recent blood transfusions within the past 30 days
  • ●Improper sample storage or handling

Compare With Similar Tests

TestAARS1 Gene Early infantile epileptic encephalopathy type 29 NGS Genetic TestElectroencephalogram (EEG)Magnetic Resonance Imaging (MRI) BrainWhole Exome Sequencing (WES)Epilepsy Gene Panel Test
ComparisonAARS1 Gene Early infantile epileptic encephalopathy type 29 NGS Genetic Test

Frequently Asked Questions

What is the AARS1 Gene Test?
The AARS1 Gene Test is a genetic test that analyzes the AARS1 gene for mutations causing Early Infantile Epileptic Encephalopathy Type 29 (EIEE29), a severe neurological disorder.
What does a positive result mean?
A positive result indicates pathogenic or likely pathogenic mutations in the AARS1 gene, confirming a diagnosis of EIEE29. Genetic counseling is recommended for management and family planning.
How accurate is the NGS genetic test?
The NGS genetic test is highly accurate for detecting mutations in the AARS1 gene, with sensitivity and specificity over 99% for coding regions. However, it may not detect all variant types.
Is the test painful?
The test involves a standard blood draw, which may cause minor discomfort or bruising, but it is generally not painful. Home collection is available for convenience.
Can the test be done at home?
Yes, DNA Labs India offers free home sample collection for the AARS1 Gene Test in major Indian cities. Book online to schedule a visit from a certified phlebotomist.
What is the cost of the test?
The cost of the AARS1 Gene NGS Genetic Test in India is INR 20,000. This includes sample collection, analysis, and report delivery.
Is the test covered by insurance?
Coverage varies by insurance provider and policy. Genetic tests may not be covered under standard plans. Check with your insurer for specifics.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after the sample reaches the laboratory. You will be notified via online portal, email, or WhatsApp.
What are the symptoms of EIEE29?
Common symptoms include seizures in infancy, poor muscle tone, developmental delays, intellectual disability, abnormal movements, coordination issues, and speech problems.
Can this test be used for prenatal diagnosis?
Prenatal testing for EIEE29 may be possible through procedures like chorionic villus sampling or amniocentesis, but consult a geneticist for guidance based on family history.
What should I do if the test is negative but symptoms persist?
If symptoms persist despite a negative result, consider additional genetic tests, metabolic evaluations, or further neurological assessments. Consult a specialist for personalized advice.
How can I book the test with DNA Labs India?
You can book the AARS1 Gene Test online through the DNA Labs India website or contact their helpline at +91-XXXXXXXXXX. Home collection is available across India.
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

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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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