PLXNB3 Gene Adrenoleukodystrophy, X-Linked NGS Genetic Test
Short Name: PLXNB3 ALD NGS Test
Also known as: PLXNB3 Gene ALD Test, X-Linked ALD Genetic Test, Adrenoleukodystrophy NGS Panel, PLXNB3 Mutation Analysis, X-ALD DNA Test
PLXNB3 Gene Adrenoleukodystrophy, X-Linked NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Targeted Gene Panel Sequencing, Bioinformatic Analysis, Sanger Confirmation (if required) on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in 3 to 4 Weeks from sample receipt at the laboratory. 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 the PLXNB3 Gene Adrenoleukodystrophy X-Linked NGS Genetic Test is to identify pathogenic mutations in the PLXNB3 gene responsible for X-linked adrenoleukodystrophy. This test serves to confirm clinical diagnosis in symptomatic patients, detect carrier status in at-risk family members, guide treatment decisions including transplant eligibility assessment, and facilitate informed family planning through carrier screening and genetic counselling.
- Test Code
- 1498
- CPT Code
- 81405
- ICD Code
- E71.3
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks from sample receipt at the laboratory
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Targeted Gene Panel Sequencing, Bioinformatic Analysis, Sanger Confirmation (if required)
Sample Collection
No special preparation such as fasting is required. Ensure the patient or guardian has provided informed consent. A genetic counselling session is recommended prior to sample collection to obtain a detailed pedigree chart of family members affected with adrenoleukodystrophy-related symptoms. Clinical history of the patient including neurological examination findings, neuroimaging reports, and VLCFA results should be documented.
Method: Venipuncture
Laboratory Analysis
A venous blood sample of 3-5 mL will be drawn into an EDTA (lavender top) tube by a trained phlebotomist. Alternatively, a single drop of blood on an FTA card may be collected. The sample will be labelled with the patient's details and stored at ambient room temperature for transport.
Report Delivery
The sample will be transported to our NABL-accredited molecular genetics laboratory under controlled conditions. DNA extraction, library preparation, and NGS sequencing will be performed. Results will be available within 3 to 4 weeks and delivered via online portal, email, and WhatsApp.
Timeline: 3 to 4 Weeks from sample receipt at the laboratory
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the PLXNB3 Gene Adrenoleukodystrophy X-Linked NGS Genetic Test is to identify pathogenic mutations in the PLXNB3 gene responsible for X-linked adrenoleukodystrophy. This test serves to confirm clinical diagnosis in symptomatic patients, detect carrier status in at-risk family members, guide treatment decisions including transplant eligibility assessment, and facilitate informed family planning through carrier screening and genetic counselling.
How to Prepare
- Collect 3-5 mL of venous blood in an EDTA (Lavender Top) tube
- Alternatively, a single drop of blood can be collected on an FTA card
- Gently invert the tube 8-10 times to mix anticoagulant with blood
- Label the sample with patient's full name, date of birth, and unique ID
- Store and transport at ambient room temperature (15-25°C)
- Ensure the sample reaches the laboratory within 48 hours of collection
- Do not freeze the blood sample
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"X-linked adrenoleukodystrophy is a progressive neurological condition that requires early molecular confirmation for timely intervention. NGS-based testing of the PLXNB3 gene offers a comprehensive approach to identify causative mutations. I recommend this test for any patient presenting with unexplained progressive neurological decline, adrenal insufficiency, or a known family history of ALD. Early diagnosis allows for better management planning, including consideration of hematopoietic stem cell transplantation in suitable candidates and genetic counselling for at-risk family members."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or haemolysed blood sample
- Sample collected in incorrect tube type (e.g., heparin tube)
- Insufficient sample volume
- Unlabelled or mislabelled samples
- Samples received after 72 hours of collection without prior arrangement
- Leaking or damaged sample containers
Understanding Your Results
Confirms the genetic diagnosis of X-linked adrenoleukodystrophy. In males, this is consistent with affected status. In females, a heterozygous variant indicates carrier status with a 50% chance of passing the mutation to each offspring. Refer for genetic counselling and consider family cascade testing.
A variant was identified but current evidence is insufficient to classify it as pathogenic or benign. Clinical correlation with biochemical markers (VLCFA levels), neuroimaging, and family segregation studies is recommended. Re-analysis may be warranted as genetic databases are updated.
No disease-causing mutation was identified in the PLXNB3 gene. This does not completely exclude adrenoleukodystrophy if clinical suspicion remains high. Additional testing including VLCFA analysis, MLPA for large deletions, or evaluation of other candidate genes may be considered.
A heterozygous pathogenic variant in the PLXNB3 gene has been identified. The individual is a carrier of X-linked adrenoleukodystrophy. Genetic counselling regarding reproductive risks and recommendation for family cascade testing is advised.
Consult your neurologist or genetic specialist if you or your child experience progressive vision loss, hearing difficulty, unexplained seizures, behavioural changes, coordination problems, or signs of adrenal insufficiency such as fatigue, weight loss, or skin darkening. Individuals with a known family history of ALD should seek genetic counselling before and after testing.
Limitations
- ⚠This test targets the PLXNB3 gene only and does not screen for mutations in other genes associated with peroxisomal or demyelinating disorders
- ⚠Deep intronic mutations and regulatory region variants outside the coding and flanking regions may not be detected
- ⚠A negative result does not completely exclude the possibility of ALD if caused by other genetic or epigenetic mechanisms
- ⚠Variants of uncertain significance (VUS) may be identified and require longitudinal reclassification as more data becomes available
- ⚠Balanced structural rearrangements such as translocations may not be detected by standard NGS protocols
Risks & Considerations
- ●Minor bruising or discomfort at the venipuncture site, which typically resolves within 1-2 days
- ●Very small risk of infection at the needle insertion site
- ●Psychological impact of results — genetic counselling is provided before and after testing to support emotional well-being
- ●Possibility of identifying variants of uncertain significance that may cause anxiety pending further classification
Interfering Factors
- ●Degraded or insufficient DNA quality from the sample may affect sequencing accuracy
- ●Recent blood transfusion within the past 4 weeks may lead to mixed DNA profiles
- ●Sample contamination during collection or transport may compromise results
- ●Presence of haematological malignancies with somatic mutations may produce confounding variants
Compare With Similar Tests
| Test | PLXNB3 Gene Adrenoleukodystrophy, X-Linked NGS Genetic Test | ABCD1 Gene Sequencing | VLCFA (Very Long Chain Fatty Acids) Test | Whole Exome Sequencing (WES) | Peroxisomal Disorder Panel |
|---|---|---|---|---|---|
| Comparison | PLXNB3 Gene Adrenoleukodystrophy, X-Linked NGS Genetic Test | ABCD1 is the primary gene associated with X-linked ALD. PLXNB3 testing may be performed as part of a comprehensive panel or when ABCD1 results are inconclusive. | VLCFA is a biochemical screening test that measures fatty acid levels. It is often the first-line investigation but requires genetic confirmation for definitive diagnosis. | WES analyses all protein-coding genes and may be considered when targeted PLXNB3 testing is negative but clinical suspicion remains high. | A broader panel that includes genes for multiple peroxisomal disorders including ALD. Useful when the differential diagnosis is wide. |
Frequently Asked Questions
What is the PLXNB3 Gene Adrenoleukodystrophy X-Linked NGS Genetic Test?
What is adrenoleukodystrophy and how does it affect the body?
Who should consider getting this genetic test?
What sample is required for the PLXNB3 NGS Genetic Test?
How much does the PLXNB3 Gene Adrenoleukodystrophy NGS Genetic Test cost in India?
How long does it take to get the results?
Is home sample collection available for this test?
What makes DNA Labs India different from other labs for this test?
Is fasting required before this test?
Can this test identify female carriers of adrenoleukodystrophy?
What should I do if the test result is positive?
Is a pre-test genetic counselling session required?
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