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DNA Labs India

ABCD1 Gene Adrenoleukodystrophy, X-Linked NGS Genetic Test

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ABCD1 Gene Adrenoleukodystrophy, X-Linked NGS Genetic Test

Short Name: ABCD1 ALD NGS Test

Also known as: X-linked adrenoleukodystrophy, Adrenoleukodystrophy, ALD

ABCD1 Gene Adrenoleukodystrophy, X-Linked 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. 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 identify mutations in the ABCD1 gene for accurate diagnosis of X-linked adrenoleukodystrophy, carrier testing, genetic counseling, and family planning.

Test Code
1504
Price
₹20,000
Sample Type
Blood
Result Time
3 to 4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation is required. Inform the laboratory of any medications, recent treatments, or genetic testing history.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample is collected via venipuncture from the arm by a trained phlebotomist in a sterile environment.

Step 3

Report Delivery

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

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to understand the implications, benefits, and limitations of ABCD1 gene testing.
2
During the Test:The blood sample undergoes DNA extraction and NGS analysis in a certified laboratory to identify ABCD1 gene variants.
3
After the Test:Results are available in 3-4 weeks. A genetic counselor can assist in interpreting findings and planning next steps.

About This Test

Who Should Get This Test

To identify mutations in the ABCD1 gene for accurate diagnosis of X-linked adrenoleukodystrophy, carrier testing, genetic counseling, and family planning.

How to Prepare

  • Bring a valid photo ID and doctor's prescription if available
  • Wear loose clothing for easy access to the arm
  • Stay hydrated before sample collection
  • Avoid vigorous physical activity prior to the test

Doctor's Notes

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

"Early genetic testing for ABCD1 gene mutations is crucial for timely intervention in adrenoleukodystrophy, potentially improving outcomes through treatments like stem cell transplantation."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Collection MethodVenipuncture

Sample Stability

Blood sample stable at room temperature for up to 24 hours
Can be stored at 2-8°C for up to 7 days before processing
Sample Rejection Criteria:
  • Hemolyzed or lipemic sample
  • Insufficient sample volume
  • Unlabeled or mislabeled sample
  • Sample collected in improper container

Understanding Your Results

Results indicate the presence or absence of mutations in the ABCD1 gene. A positive result confirms ALD diagnosis or carrier status, while a negative result may require further testing if clinical suspicion remains.
📊

Pathogenic or likely pathogenic mutation detected

Confirms diagnosis of adrenoleukodystrophy or carrier status. Genetic counseling and specialist consultation are recommended for management.

📊

Variant of uncertain significance (VUS) detected

Further testing, family studies, or functional analysis may be needed to clarify clinical significance.

📊

No pathogenic mutation detected

ALD is less likely, but if clinical symptoms persist, additional diagnostic tests should be considered.

⚠️ When to Consult a Doctor:

If test results are positive, if symptoms of ALD are present, or if there is a family history, consult a neurologist, geneticist, or endocrinologist for evaluation and management.

Limitations

  • ⚠May not detect all types of ABCD1 gene mutations, such as large deletions
  • ⚠Does not assess disease severity or progression
  • ⚠Results require interpretation by a genetic counselor or specialist
  • ⚠False negatives possible in rare cases

Risks & Considerations

  • ●Minor pain, bruising, or infection at the blood draw site
  • ●Emotional impact of genetic test results, such as anxiety
  • ●Potential for ambiguous results requiring further investigation

Interfering Factors

  • ●Contaminated or degraded blood sample
  • ●Improper sample storage or handling
  • ●Recent blood transfusion may affect DNA analysis
  • ●Hemolyzed sample

Frequently Asked Questions

What is ABCD1 Gene Adrenoleukodystrophy?
Adrenoleukodystrophy (ALD) is a rare X-linked genetic disorder caused by mutations in the ABCD1 gene, leading to accumulation of very-long-chain fatty acids and damage to the nervous system and adrenal glands.
How is Adrenoleukodystrophy inherited?
ALD follows X-linked recessive inheritance, primarily affecting males, while females can be carriers who may pass the mutation to offspring.
What are the early symptoms of childhood-onset ALD?
Early symptoms include behavioral problems, difficulty with schoolwork, vision loss, hearing loss, seizures, and rapid neurological decline.
What are the symptoms of adult-onset ALD?
Adult-onset symptoms may include leg weakness, coordination and balance issues, bladder or bowel dysfunction, sexual dysfunction, and depression or anxiety.
How is ALD diagnosed?
Diagnosis involves clinical examination, MRI scans showing brain changes, blood tests for elevated very-long-chain fatty acids, and genetic testing to confirm ABCD1 gene mutations.
What is NGS genetic testing?
Next-generation sequencing (NGS) is an advanced technology that sequences entire gene regions to accurately detect various types of genetic mutations.
What mutations does the ABCD1 Gene NGS test detect?
The test identifies a wide range of mutations in the ABCD1 gene, including point mutations, insertions, deletions, and other variants associated with ALD.
Who should consider getting this genetic test?
Individuals with a family history of ALD, those exhibiting symptoms of neurological or adrenal dysfunction, and carriers for family planning should consider testing.
What is the cost of the ABCD1 Gene NGS test in India?
The test costs INR 20,000 at DNA Labs India, which includes free home sample collection across many cities in India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for the ABCD1 Gene NGS test in numerous cities nationwide for convenience.
How long does it take to receive the test results?
Results are typically available within 3 to 4 weeks after sample collection, with delivery via online portal, email, or WhatsApp.
What should I do if the test results are positive?
If results are positive, consult a neurologist or geneticist for further evaluation, management options, and genetic counseling to guide treatment and family decisions.
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

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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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