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LMNB1 Gene Leukodystrophy demyelinating adult-onset, autosomal dominant NGS Genetic Test

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LMNB1 Gene Leukodystrophy demyelinating adult-onset, autosomal dominant NGS Genetic Test

Short Name: LMNB1 NGS Test

Also known as: Adult-onset autosomal dominant leukodystrophy (ADLD), LMNB1-associated leukodystrophy, Demyelinating adult-onset ADLD

LMNB1 Gene Leukodystrophy demyelinating adult-onset, autosomal dominant NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are available within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAdult🏠 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 purpose of this test is to confirm or rule out a molecular diagnosis of LMNB1-related adult-onset demyelinating leukodystrophy. It may also be used for predictive testing in at-risk family members after appropriate genetic counseling, and for reproductive decision-making.

Test Code
4194
CPT Code
N/A
ICD Code
N/A
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are available within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A genetic counseling session is recommended before testing to review clinical history and construct a three-generation pedigree. The referring physician will confirm that the test is appropriate for the patient.

Method: Peripheral blood draw; dried blood spot; extracted DNA

Step 2

Laboratory Analysis

A qualified phlebotomist will draw a peripheral blood sample using a sterile EDTA vacutainer. If an FTA card is used, a few drops of blood will be applied to the provided card. For previously extracted DNA, the sample will be transferred to an appropriately labeled DNA vial.

Step 3

Report Delivery

No special precautions are required after sample collection. The patient may resume normal activities immediately.

Timeline: Reports are available within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:No fasting is required. A genetic counseling session is recommended before testing to review clinical history and construct a three-generation pedigree.
2
During the Test:A blood sample or FTA card sample is collected by a trained professional. For extracted DNA samples, the sample is transferred to a DNA vial.
3
After the Test:No specific precautions are required. Results are typically available in 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to confirm or rule out a molecular diagnosis of LMNB1-related adult-onset demyelinating leukodystrophy. It may also be used for predictive testing in at-risk family members after appropriate genetic counseling, and for reproductive decision-making.

How to Prepare

  • Blood should be collected in an EDTA (purple top) vacutainer. Do not use heparin.
  • FTA card specimens should be air-dried at room temperature.
  • Extracted DNA should be at a concentration suitable for NGS and stored at -20°C.
  • Samples must be clearly labeled with patient name, date of birth, and collection date.

Doctor's Notes

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

"LMNB1 NGS genetic testing should be interpreted in the context of clinical, radiological, and family history. Genetic counseling is essential for all at-risk families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml blood or equivalent extracted DNA
ContainerEDTA vacutainer / FTA card / DNA vial
Collection MethodPeripheral blood draw; dried blood spot; extracted DNA

Sample Stability

Whole blood in EDTA: 24-48 hours at room temperature or 7 days at 2-8°C.
FTA card dried blood spot: stable for several weeks at room temperature.
Extracted DNA in nuclease-free tube: stable for months at -20°C.
Sample Rejection Criteria:
  • Clotted or hemolyzed blood sample
  • Sample in inappropriate anticoagulant such as heparin
  • Visible contamination or degraded DNA
  • Inadequate sample volume without prior approval
  • Unlabeled or mislabeled sample

Understanding Your Results

This test is interpreted in the context of clinical signs, imaging findings, and family history. The result should be reviewed with a geneticist or referring physician.
📊

Negative / No pathogenic variant detected

No disease-causing variant was identified in the LMNB1 gene. This reduces the likelihood of LMNB1-related leukodystrophy, although a genetic cause in another gene may still be possible.

Action: Correlate with MRI findings; consider broader leukodystrophy gene panel if suspicion remains high.

📊

Heterozygous pathogenic or likely pathogenic variant detected

The result is consistent with a molecular diagnosis of autosomal dominant adult-onset demyelinating leukodystrophy.

Action: Provide genetic counseling; discuss symptom surveillance and family testing.

📊

Variant of uncertain significance (VUS) detected

A variant was found but its clinical significance is currently unknown.

Action: Further segregation studies in family members may be needed to clarify pathogenicity.

📊

Unusual or unexpected genotype

Homozygous or compound heterozygous variants are not expected for typical autosomal dominant ADLD and may indicate alternative inheritance or another gene.

Action: Confirmatory analysis and clinical correlation are required.

⚠️ When to Consult a Doctor:

Consult a neurologist or geneticist if you or a family member develop unexplained progressive neurological symptoms, abnormal MRI white matter changes, or have a known family history of adult-onset leukodystrophy.

Limitations

  • ⚠NGS may not reliably detect all large duplications, structural rearrangements, or variants in deep intronic regions.
  • ⚠Large LMNB1 duplications, which are a known cause of adult-onset autosomal dominant leukodystrophy, may require additional methods such as MLPA or qPCR.
  • ⚠A negative result does not exclude a leukodystrophy caused by genes other than LMNB1.
  • ⚠Variant interpretation may change over time as new scientific data become available.

Risks & Considerations

  • ●Minimal discomfort during blood collection
  • ●Bruising or pain at venipuncture site
  • ●Dizziness or lightheadedness
  • ●Psychological stress in response to predictive test results

Interfering Factors

  • ●Poor DNA quality or low DNA concentration
  • ●Extensive hemolysis or clotted blood sample
  • ●Sample contamination from another individual
  • ●Incorrect sample labeling or mixed samples
  • ●Variant of uncertain clinical significance

Compare With Similar Tests

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Frequently Asked Questions

What is LMNB1 gene leukodystrophy?
LMNB1 gene leukodystrophy, also called adult-onset autosomal dominant demyelinating leukodystrophy (ADLD), is a rare inherited condition that damages the myelin sheath in the brain. It is caused by pathogenic variants or duplications in the LMNB1 gene and usually begins in adulthood with progressive neurological symptoms.
What are the first symptoms?
Early symptoms often include weakness in the legs, difficulty with balance and walking, tremors, bladder and bowel dysfunction, and changes in cognition or mood. Symptoms progress slowly over time.
How is the diagnosis confirmed?
Diagnosis is confirmed by combining clinical examination, brain MRI showing white matter abnormalities, and genetic testing. NGS-based testing helps identify pathogenic variants in the LMNB1 gene.
What is the cost of the LMNB1 NGS genetic test at DNA Labs India?
The special all-India price is Rs 20000.0. This includes free home sample collection in most cities and a full clinical report.
What sample is needed for the test?
The test can be performed on blood in an EDTA tube, dried blood spot on an FTA card, or extracted DNA. The laboratory must receive an appropriately labeled sample.
Is fasting required before sample collection?
No, fasting is not required for this NGS genetic test. You can eat and drink normally before collection.
How long will the report take?
Reports are typically issued within 3 to 4 weeks after the sample reaches the laboratory.
Will I receive raw data files?
Yes. DNA Labs India provides the conclusive clinical report along with raw data files, including FASTQ and VCF, for transparency and secondary analysis if needed.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in many cities across India. A trained phlebotomist will visit on the scheduled date.
Can this test be done for an asymptomatic person with a family history?
Yes, predictive testing for at-risk family members may be done after structured genetic counseling. It is essential to understand the potential implications of the result before testing.
What does a negative result mean?
A negative result means no pathogenic or likely pathogenic variant was found in the LMNB1 gene using this NGS assay. However, the test may not detect large duplications or mutations in other leukodystrophy genes; correlation with clinical and MRI findings is necessary.
If a pathogenic variant is found, what should the family do?
If a pathogenic variant is detected, a medical geneticist should explain the autosomal dominant inheritance pattern and recurrence risks. Testing of symptomatic and at-risk relatives may be recommended after specialized counseling.
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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