AIMP1 Gene Leukodystrophy hypomyelinating type 3 NGS Genetic Test
Short Name: AIMP1 NGS Test
Also known as: AIMP1-associated leukodystrophy, Hypomyelinating leukodystrophy type 3
AIMP1 Gene Leukodystrophy hypomyelinating type 3 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood samples. Results in Typically 3-4 weeks from receipt of sample; delays may occur due to sequencing complexity.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect pathogenic variants in the AIMP1 gene to confirm a diagnosis of hypomyelinating leukodystrophy type 3, aid in genetic counselling, and guide clinical management.
- Test Code
- 4190
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- Typically 3-4 weeks from receipt of sample; delays may occur due to sequencing complexity.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. A genetic counselling session may be held before the test to discuss the reason for testing and the implications of results. Patients should carry any relevant medical records, including MRI brain reports and family history information.
Method: Peripheral venipuncture or home collection
Laboratory Analysis
A small volume of blood is drawn from the arm using a sterile needle. The procedure is safe and takes approximately 5-10 minutes.
Report Delivery
There are no specific restrictions after sample collection. The patient can resume normal activities immediately.
Timeline: Typically 3-4 weeks from receipt of sample; delays may occur due to sequencing complexity.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect pathogenic variants in the AIMP1 gene to confirm a diagnosis of hypomyelinating leukodystrophy type 3, aid in genetic counselling, and guide clinical management.
How to Prepare
- No fasting is required.
- Inform your doctor about all medications and supplements.
- Home collection scheduled within 24-48 hours of booking.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for leukodystrophy is essential for accurate diagnosis and family planning. This test helps identify AIMP1 gene variants in suspected cases of hypomyelinating type 3 leukodystrophy."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed samples
- Clotted samples (if anticoagulant was used)
- Insufficient volume
- Sample received after prolonged storage (more than 5 days)
Understanding Your Results
Confirms the diagnosis for the AIMP1-related leukodystrophy in the appropriate clinical context.
The variant is neither conclusively disease-causing nor benign. Additional family studies or functional studies may be recommended.
Does not confirm the diagnosis. Other genetic and acquired causes of leukodystrophy should be considered.
If the test result is positive, consult a clinical geneticist or neurologist for detailed explanation and management. Also, consult for genetic counselling to discuss recurrence risks and family planning options.
Limitations
- ⚠This test examines the AIMP1 gene only and does not rule out other leukodystrophy-causing genes.
- ⚠Variants in regulatory regions (e.g., deep intronic, promoter) may not be detected.
- ⚠Interpretation of variants of uncertain significance may require further testing or family study.
- ⚠This test is not intended to predict disease severity or age of onset.
Risks & Considerations
- ●Bleeding or bruising at puncture site
- ●Slight pain during needle insertion
- ●Infection (very rare)
Interfering Factors
- ●Poor DNA quality from degraded samples
- ●Contamination during sample collection
- ●Technical limitations of NGS in regions with high GC content or pseudogene interference
- ●Rare genetic variants of uncertain significance
Compare With Similar Tests
| Test | AIMP1 Gene Leukodystrophy hypomyelinating type 3 NGS Genetic Test | ||
|---|---|---|---|
| Comparison | AIMP1 Gene Leukodystrophy hypomyelinating type 3 NGS Genetic Test |
Frequently Asked Questions
What is the cost of the AIMP1 gene NGS genetic test?
What sample is required for the AIMP1 gene leukodystrophy test?
How long does it take to get the results?
Is the test covered by insurance?
What is leukodystrophy hypomyelinating type 3?
Who should get this genetic test?
Why is genetic counselling recommended before the test?
What do the results of the test indicate?
Can this test predict the severity of the condition?
Is home sample collection available?
Does this test require fasting?
What is the turnaround time for the test?
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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.
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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