Skip to main content
DNA Labs India

Nx Gen Sequencing: Adrenoleukodystrophy Test

DNA Labs India | ISO 9001:2015 Certified

Nx Gen Sequencing: Adrenoleukodystrophy Test

Short Name: ALD Genetic Test

Also known as: ALD Genetic Test, ABCD1 Gene Sequencing Test, X-Linked Adrenoleukodystrophy Gene Test, ALD NGS Panel, Adrenoleukodystrophy DNA Test

Nx Gen Sequencing: Adrenoleukodystrophy Test test available at DNA Labs India for ₹23,400. Uses Next-Generation Sequencing (NGS), Sanger Sequencing on Whole Blood samples. Results in Results are available within 40 working days from the date of sample receipt at the laboratory. Reports can be accessed through the online portal, email, or WhatsApp.. Free home collection in 300+ cities across India.

Molecular Genetic TestAll Ages🏠 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 primary purpose of the Nx Gen Sequencing: Adrenoleukodystrophy Test is to identify pathogenic or likely pathogenic mutations in the ABCD1 gene that cause X-linked Adrenoleukodystrophy. This test is used for confirming clinical diagnosis, presymptomatic detection in at-risk family members, carrier identification in females, and informed genetic counseling for family planning. It may also guide treatment decisions such as initiation of adrenal hormone replacement therapy or evaluation for hematopoietic stem cell transplantation in patients with cerebral ALD.

Test Code
1330
CPT Code
81405
ICD Code
E71.529
Price
₹23,400
Sample Type
Whole Blood
Result Time
Results are available within 40 working days from the date of sample receipt at the laboratory. Reports can be accessed through the online portal, email, or WhatsApp.
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger Sequencing
Step 1

Sample Collection

Ensure the Whole Exome Sequencing Consent Form (Form 37) is duly filled and signed. No fasting is required. Inform the phlebotomist about any recent blood transfusions, medications, or ongoing treatments. Discontinue biotin supplements at least 48 hours before sample collection if applicable.

Method: Venipuncture

Step 2

Laboratory Analysis

A qualified phlebotomist will collect 10 mL (minimum 5 mL) of whole blood via venipuncture into 2 Lavender Top (EDTA) tubes. The tubes should be gently inverted 8–10 times to ensure proper mixing with the anticoagulant. The sample should be labeled correctly with patient details.

Step 3

Report Delivery

The blood sample must be shipped refrigerated (2–8°C). Do not freeze the sample. Ensure the sample reaches the laboratory within 72 hours of collection. The consent form (Form 37) must accompany the sample.

Timeline: Results are available within 40 working days from the date of sample receipt at the laboratory. Reports can be accessed through the online portal, email, or WhatsApp.

Patient Instructions

1
Before the Test:No special preparation or fasting is required. The mandatory Whole Exome Sequencing Consent Form (Form 37) must be completed and signed prior to sample collection. Inform your healthcare provider about any recent blood transfusions, ongoing medications, or supplements (particularly biotin, which should be discontinued at least 48 hours before the test). Genetic counseling may be arranged before testing to discuss the implications of potential results.
2
During the Test:The test involves a simple blood draw (venipuncture). A trained phlebotomist will collect approximately 10 mL of blood into two EDTA (Lavender Top) tubes. The procedure typically takes 5–10 minutes. Mild discomfort or bruising at the puncture site may occur. Free home sample collection is available across India for online bookings.
3
After the Test:After sample collection, you may resume normal activities immediately. The blood sample is transported refrigerated to the laboratory for DNA extraction, library preparation, and Next-Generation Sequencing. Results are typically available within 40 working days. A genetic counseling session will be arranged to discuss your results, their implications, and recommended next steps including family screening if applicable.

About This Test

Who Should Get This Test

The primary purpose of the Nx Gen Sequencing: Adrenoleukodystrophy Test is to identify pathogenic or likely pathogenic mutations in the ABCD1 gene that cause X-linked Adrenoleukodystrophy. This test is used for confirming clinical diagnosis, presymptomatic detection in at-risk family members, carrier identification in females, and informed genetic counseling for family planning. It may also guide treatment decisions such as initiation of adrenal hormone replacement therapy or evaluation for hematopoietic stem cell transplantation in patients with cerebral ALD.

How to Prepare

  • Collect 10 mL (5 mL minimum) whole blood from 2 Lavender Top (EDTA) tubes
  • Gently invert tubes 8–10 times after collection
  • Ship the sample refrigerated (2–8°C). DO NOT FREEZE
  • Submit the duly filled Whole Exome Sequencing Consent Form (Form 37) with the sample
  • Free home sample collection is available for online bookings across India
  • Sample must be received daily by 9 AM for same-day processing initiation

Doctor's Notes

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

"Adrenoleukodystrophy is a progressive and potentially life-threatening condition. Early genetic diagnosis through ABCD1 gene sequencing allows timely intervention including adrenal hormone replacement, hematopoietic stem cell transplantation in cerebral ALD, and genetic counseling for family planning. I recommend this test for any male patient presenting with unexplained adrenal insufficiency, progressive neurological deterioration, or a confirmed family history of ALD."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeWhole Blood
Sample Volume10 mL (5 mL minimum)
Container2 Lavender Top (EDTA) tubes
Collection MethodVenipuncture

Sample Stability

Room Temperature (25°C)
Refrigerated (2–8°C)
Frozen (-20°C or below)
Sample Rejection Criteria:
  • Sample received without the mandatory Whole Exome Sequencing Consent Form (Form 37)
  • Sample collected in non-EDTA tubes (e.g., heparin, citrate)
  • Hemolyzed, clotted, or insufficient volume sample
  • Sample received frozen
  • Sample received after 72 hours of collection at refrigerated temperature
  • Mislabeled or unlabeled sample tubes

Understanding Your Results

The Nx Gen Sequencing: Adrenoleukodystrophy Test report will indicate whether pathogenic or likely pathogenic mutations in the ABCD1 gene were identified. Results must be interpreted in conjunction with clinical findings, family history, and biochemical markers such as VLCFA levels. Genetic counseling is recommended for all patients and families to understand the implications of results for the patient's health and for at-risk family members.
📊

No Pathogenic Variant Detected

No disease-causing mutation was identified in the ABCD1 gene. This reduces the likelihood of X-ALD but does not completely exclude it, especially if clinical suspicion is high. Further biochemical testing (VLCFA levels) and clinical correlation may be warranted.

📊

Pathogenic or Likely Pathogenic Variant Detected

A known disease-causing mutation in the ABCD1 gene was identified, confirming the diagnosis of X-linked Adrenoleukodystrophy in affected males or carrier status in females. Treatment planning, adrenal function monitoring, neurological surveillance, and cascade testing of family members should be initiated.

📊

Variant of Uncertain Significance (VUS)

A genetic variant in the ABCD1 gene was identified, but current evidence is insufficient to classify it as pathogenic or benign. Clinical correlation, family segregation studies, and VLCFA testing are recommended. The variant may be reclassified as more data becomes available.

📊

Carrier Status (Females)

A heterozygous pathogenic variant in the ABCD1 gene was detected. The female individual is a carrier of X-ALD. Carriers may develop mild symptoms later in life (adrenomyeloneuropathy in approximately 65% of carriers over age 60). Genetic counseling regarding family planning and offspring risk is recommended.

⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if your test result detects a pathogenic variant in the ABCD1 gene, if a Variant of Uncertain Significance (VUS) is identified, if you have a family history of ALD and wish to discuss your results, or if you are a female carrier seeking guidance on family planning and long-term monitoring. Immediate medical consultation is also recommended if you or your child develop symptoms such as progressive vision loss, behavioral changes, difficulty walking, adrenal crisis, or unexplained seizures.

Limitations

  • ⚠This test detects mutations only in the ABCD1 gene; other genetic causes of leukodystrophy or adrenal insufficiency are not covered
  • ⚠Large genomic rearrangements, copy number variations, or deep intronic variants may not be fully detected by standard NGS and Sanger sequencing
  • ⚠A negative result does not completely exclude ALD if symptoms are strongly suggestive — additional biochemical testing such as VLCFA levels may be warranted
  • ⚠Variants of uncertain significance (VUS) may be identified, requiring further clinical correlation and family studies
  • ⚠This test is not designed for prenatal diagnosis; separate prenatal testing methods are available upon request
  • ⚠Mosaicism at low levels may not be detected

Risks & Considerations

  • ●Minor bruising or pain at the venipuncture site
  • ●Fainting or dizziness during blood draw (rare)
  • ●Minimal risk of infection at the puncture site
  • ●Emotional or psychological impact of genetic test results, particularly for carrier status or presymptomatic detection — genetic counseling is provided to mitigate this
  • ●Potential identification of Variants of Uncertain Significance (VUS) which may cause anxiety without a definitive conclusion

Interfering Factors

  • ●Recent blood transfusion within the past 30 days may affect DNA quality and interpretation
  • ●Degraded or insufficient DNA due to improper sample handling or storage
  • ●Failure to submit the mandatory Whole Exome Sequencing Consent Form (Form 37) may delay processing
  • ●Contamination of the sample during collection or transport
  • ●Heparin-based anticoagulants can interfere with downstream molecular assays; EDTA tubes are required

Compare With Similar Tests

TestNx Gen Sequencing: Adrenoleukodystrophy TestVery Long-Chain Fatty Acids (VLCFA) TestACTH Stimulation TestBrain MRIWhole Exome Sequencing (WES)
ComparisonNx Gen Sequencing: Adrenoleukodystrophy TestVLCFA is a biochemical screening test that measures elevated levels of C26:0 and C26:0/C22:0 ratio in plasma. It is a first-line screening tool but is not specific to ALD and requires molecular confirmation via ABCD1 gene sequencing. VLCFA testing is faster (days) but less definitive than genetic sequencing.This test evaluates adrenal gland function and can detect adrenal insufficiency, which occurs in approximately 70% of male X-ALD patients. It does not identify the genetic cause and is complementary to genetic testing for comprehensive disease assessment.MRI can detect characteristic patterns of cerebral demyelination and white matter changes in ALD patients. It is useful for staging disease severity and monitoring progression but cannot identify the underlying genetic mutation.WES analyzes all protein-coding genes and may identify ABCD1 mutations as part of a broader evaluation. The targeted Nx Gen Sequencing for ALD provides focused, in-depth analysis of the ABCD1 gene with potentially higher coverage and accuracy for this specific condition.

Frequently Asked Questions

What is Adrenoleukodystrophy (ALD)?
Adrenoleukodystrophy (ALD) is a rare X-linked genetic disorder caused by mutations in the ABCD1 gene. It leads to the accumulation of very long-chain fatty acids (VLCFAs) in the brain, spinal cord, and adrenal glands, resulting in progressive neurological deterioration, adrenal insufficiency, and demyelination. It primarily affects males, though female carriers can also develop milder symptoms.
What does the Nx Gen Sequencing for ALD test detect?
This test uses Next-Generation Sequencing (NGS) with confirmatory Sanger sequencing to identify mutations in the ABCD1 gene. It can detect point mutations, small insertions, deletions, and splice-site variants responsible for X-linked Adrenoleukodystrophy. The test provides variant classification following ACMG guidelines.
Who should get this test?
This test is recommended for males presenting with symptoms such as progressive neurological decline, unexplained adrenal insufficiency, behavioral changes, vision or hearing loss, or spastic paraplegia. It is also recommended for females with a family history of ALD to determine carrier status, and for presymptomatic screening of at-risk family members.
What sample is required for the ALD genetic test?
The test requires 10 mL (5 mL minimum) of whole blood collected in 2 Lavender Top (EDTA) tubes. The sample must be shipped refrigerated and should not be frozen. A duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory with every sample submission.
How long does it take to get the results?
Results are typically available within 40 working days from the date the sample is received at the laboratory. Reports can be accessed via the online portal, email, or WhatsApp.
What is the cost of the Nx Gen Sequencing ALD test?
The cost of the Nx Gen Sequencing: Adrenoleukodystrophy Test at DNA Labs India is INR ?23,400. This includes sample collection, NGS and Sanger sequencing analysis, report generation, and genetic counseling. Free home sample collection is available for online bookings across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for the Nx Gen Sequencing ALD test when booked online. Our trained phlebotomists will visit your home to collect the blood sample. This service is available in over 400 cities across India including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, and many more.
Can female carriers of ALD develop symptoms?
Yes, although X-ALD primarily affects males, female carriers can develop symptoms later in life. Approximately 65% of female carriers over the age of 60 may develop adrenomyeloneuropathy (AMN), characterized by progressive stiffness, weakness in the legs, and bladder dysfunction. Carrier testing and long-term monitoring are therefore important.
What is the difference between ALD and adrenomyeloneuropathy (AMN)?
ALD (cerebral form) involves rapid inflammatory demyelination of the brain, typically affecting boys between ages 4–10, and can be fatal without treatment. AMN is a milder, slowly progressive form that typically affects adult males and involves spinal cord degeneration leading to spastic paraplegia and peripheral neuropathy. Both are caused by ABCD1 gene mutations.
What happens if my test result shows a Variant of Uncertain Significance (VUS)?
A VUS means a genetic change was found in the ABCD1 gene, but there is currently insufficient evidence to classify it as disease-causing or benign. Your geneticist will recommend clinical correlation, VLCFA biochemical testing, and family segregation studies. The variant may be reclassified over time as more scientific evidence becomes available.
Is a negative genetic test result definitive?
A negative result means no pathogenic variant was identified in the ABCD1 gene, which significantly reduces the likelihood of X-ALD. However, it does not completely exclude the condition, as some large rearrangements or deep intronic variants may not be detected. If clinical suspicion remains high, VLCFA testing and further clinical evaluation are recommended.
What treatment options are available if ALD is diagnosed?
Treatment depends on the disease type and severity. Adrenal insufficiency is managed with lifelong corticosteroid replacement therapy. For cerebral ALD in its early stages, hematopoietic stem cell transplantation (HSCT) or gene therapy (Lenti-D/elivaldogene autotemcel) may halt disease progression. Lorenzo's oil and dietary VLCFA restriction may help slow progression in some cases. Regular neurological monitoring and supportive care including physical therapy, occupational therapy, and seizure management are also important components of 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.

Related Tests

Angelman Syndrome Test

₹10,000

Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test

₹14,000

Episodic Ataxia Type 1 Hotspot Test

₹11,500

Episodic Ataxia Comprehensive Profile Hotspot Test

₹16,000

Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test

₹7,500

Analyzer 18 SMA 18 Test Panel

₹1,755
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.