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ABCD1 Gene Adrenoleukodystrophy/Adrenomyeloneuropathy NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

ABCD1 Gene Adrenoleukodystrophy/Adrenomyeloneuropathy NGS Genetic Test

Short Name: ABCD1 ALD/AMN NGS Test

Also known as: ALD Genetic Test, AMN Genetic Test, ABCD1 Mutation Analysis, X-Linked ALD Test

ABCD1 Gene Adrenoleukodystrophy/Adrenomyeloneuropathy NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next Generation Sequencing) on Blood samples. Results in Results available in 3 to 4 weeks after sample receipt.. 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

To diagnose mutations in the ABCD1 gene responsible for Adrenoleukodystrophy (ALD) and Adrenomyeloneuropathy (AMN), enabling early intervention, treatment planning, and genetic counseling for affected individuals and families.

Test Code
1502
Price
₹20,000
Sample Type
Blood
Result Time
Results available in 3 to 4 weeks after sample receipt.
Fasting Required
No
Method
NGS (Next Generation Sequencing)
Step 1

Sample Collection

No specific preparation required. Provide clinical history and family pedigree information.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the site to prevent bruising. Resume normal activities.

Timeline: Results available in 3 to 4 weeks after sample receipt.

Patient Instructions

1
Before the Test:Genetic counseling session recommended to understand implications and draw a family pedigree chart.
2
During the Test:Blood sample collection; no pain beyond a needle prick.
3
After the Test:Sample sent to lab for NGS analysis; results discussed with healthcare provider.

About This Test

Who Should Get This Test

To diagnose mutations in the ABCD1 gene responsible for Adrenoleukodystrophy (ALD) and Adrenomyeloneuropathy (AMN), enabling early intervention, treatment planning, and genetic counseling for affected individuals and families.

How to Prepare

  • Ensure proper identification of patient
  • Use sterile collection techniques
  • Label sample correctly with patient details

Doctor's Notes

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

"Early genetic testing for ABCD1 mutations is crucial for timely intervention in ALD and AMN, potentially slowing disease progression through monitoring and treatment."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Sample Volume5-10 mL
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Stable for 48 hours at room temperature
Can be refrigerated for up to 7 days
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Incorrectly labeled or unlabeled sample

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the ABCD1 gene. Positive results confirm genetic predisposition to ALD or AMN, while negative results suggest no detected mutations, but clinical correlation is essential.
📊

Positive for pathogenic mutation

Confirms diagnosis of ALD or AMN carrier status; recommend clinical evaluation and counseling

📊

Negative for mutations

No ABCD1 mutations detected; consider other causes if symptoms persist

📊

Variant of uncertain significance

Further testing and family studies may be needed for clarification

⚠️ When to Consult a Doctor:

If experiencing symptoms such as unexplained neurological decline, adrenal insufficiency, or if there is a family history of ALD or AMN.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical symptoms and family history

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results; counseling recommended

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Incorrect sample storage or handling
  • ●Recent blood transfusions may affect DNA purity

Compare With Similar Tests

TestABCD1 Gene Adrenoleukodystrophy/Adrenomyeloneuropathy NGS Genetic Test
ComparisonABCD1 Gene Adrenoleukodystrophy/Adrenomyeloneuropathy NGS Genetic Test

Frequently Asked Questions

What is the ABCD1 Gene Test?
It is a genetic test that analyzes the ABCD1 gene for mutations causing Adrenoleukodystrophy (ALD) and Adrenomyeloneuropathy (AMN), using Next Generation Sequencing technology.
Who should consider this test?
Individuals with symptoms of ALD/AMN, such as neurological decline, adrenal issues, or those with a family history of these disorders.
How is the test performed?
A blood sample is collected and analyzed using NGS to detect mutations in the ABCD1 gene.
What are the symptoms of ALD and AMN?
Symptoms include loss of muscle control, walking difficulties, speech problems, vision loss, hearing loss, seizures, and adrenal dysfunction.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is genetic counseling required before the test?
Yes, genetic counseling is recommended to discuss implications, family history, and interpretation of results.
What does a positive result mean?
A positive result indicates a mutation in the ABCD1 gene, confirming carrier status or diagnosis of ALD/AMN, requiring further medical evaluation.
Is the test covered by insurance?
Coverage varies; it is often not covered by standard insurance schemes, so check with your provider.
Are there any risks to the test?
The test involves a standard blood draw with minimal risks like bruising; psychological counseling may be advised for result interpretation.
How accurate is the NGS technology used?
NGS is highly accurate for detecting mutations but may not identify all types, such as large structural variants.
Can this test be done at home?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
What should I do after receiving the results?
Consult with a healthcare provider or genetic counselor to understand the results and plan for monitoring or treatment.
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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