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TUBB4A Gene Leukodystrophy hypomyelinating type 6 NGS Genetic Test

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TUBB4A Gene Leukodystrophy hypomyelinating type 6 NGS Genetic Test

Short Name: TUBB4A NGS Genetic Test

Also known as: Leukodystrophy Hypomyelinating Type 6 Genetic Test, TUBB4A Gene Mutation Analysis, HLD6 NGS Test

TUBB4A Gene Leukodystrophy hypomyelinating type 6 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 released within 3 to 4 weeks after the sample reaches the lab.. 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 confirm the diagnosis of hypomyelinating leukodystrophy type 6 by identifying pathogenic variants in the TUBB4A gene using next-generation sequencing.

Test Code
4196
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are released within 3 to 4 weeks after the sample reaches the lab.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A genetic counselling session is recommended to draw a pedigree chart of family members affected with TUBB4A gene leukodystrophy. The patient should provide complete clinical history and prior MRI reports if available.

Method: Venipuncture / Finger prick (FTA card)

Step 2

Laboratory Analysis

Blood sample is collected by a trained phlebotomist using a sterile technique. For FTA card, a finger prick is done to place one drop of blood on the card.

Step 3

Report Delivery

No special precautions are required. You can resume normal activities immediately.

Timeline: Reports are released within 3 to 4 weeks after the sample reaches the lab.

Patient Instructions

1
Before the Test:During a pre-test genetic counselling, the healthcare professional will review your family history, explain the test procedure and possible outcomes, and obtain informed consent.
2
During the Test:A sample of blood (or FTA card) will be collected. The procedure is quick and painless.
3
After the Test:No restrictions. You will be notified when the report is ready.

About This Test

Who Should Get This Test

To confirm the diagnosis of hypomyelinating leukodystrophy type 6 by identifying pathogenic variants in the TUBB4A gene using next-generation sequencing.

How to Prepare

  • For blood sample: Collect in an EDTA vacutainer and label with patient details.
  • For FTA card: Apply one drop of blood onto the card, air dry, and store in a protective pouch.
  • Make sure the sample is dispatched to the laboratory within 48 hours.

Doctor's Notes

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

"Genetic testing provides critical information for reproductive planning and early intervention in affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA vacutainer / FTA card
Collection MethodVenipuncture / Finger prick (FTA card)

Sample Stability

Whole blood in EDTA: 7 days at room temperature, 14 days at 2-8°C.
Extracted DNA: 1 month at -20°C.
FTA card: Stable for months at room temperature.
Sample Rejection Criteria:
  • Clotted or hemolyzed blood sample.
  • Insufficient sample volume.
  • Unlabeled or improperly labeled sample.
  • Sample transported at extreme temperatures.

Understanding Your Results

The results of this NGS genetic test should be interpreted by a clinical geneticist. A positive result for a pathogenic mutation confirms the diagnosis of hypomyelinating leukodystrophy type 6. A negative result does not entirely exclude the condition, especially if clinical suspicion is high.
📊

Pathogenic variant detected

Confirms the diagnosis of HLD6 and enables genetic counselling.

📊

No pathogenic variant detected

Does not rule out HLD6; consider other genetic causes or clinical reassessment.

⚠️ When to Consult a Doctor:

If you observe any symptoms of hypomyelinating leukodystrophy type 6, such as delayed milestones, muscle weakness, seizures, speech difficulties, or vision problems, consult a neurologist for clinical evaluation and genetic counseling.

Limitations

  • ⚠NGS may not detect large deletions, duplications, or repeats in all cases.
  • ⚠Results should be interpreted in the context of clinical history and neuroimaging findings.

Risks & Considerations

  • ●No significant risks. A small chance of hematoma or infection at the blood collection site is possible but rare.

Interfering Factors

  • ●Poor sample quality, DNA degradation, or insufficient DNA quantity may affect results.
  • ●Mutations in other genes with similar phenotypes may not be detected by this single gene test.

Frequently Asked Questions

What is the TUBB4A gene?
The TUBB4A gene provides instructions for making a protein that is essential for the structure of microtubules. Mutations in this gene are associated with hypomyelinating leukodystrophy type 6.
What is hypomyelinating leukodystrophy type 6?
It is a genetic disorder that affects the white matter of the brain, causing a lack of myelin production. This leads to neurological and motor function deterioration.
What are the main symptoms?
Symptoms typically appear in early childhood and include delayed motor development, difficulty with coordination, muscle weakness, seizures, intellectual disability, speech difficulties, and vision problems.
How is this condition diagnosed?
Diagnosis involves clinical evaluation, neurological examination, MRI showing white matter changes, and confirmation by genetic testing identifying a mutation in the TUBB4A gene.
Why use NGS instead of other methods?
NGS analyzes the entire TUBB4A gene in a single test, allowing detection of various mutations including single nucleotide variants and small insertions/deletions. It is more comprehensive than traditional sequencing methods.
What sample is needed?
The test requires a blood sample (2-3ml), or extracted DNA, or one drop of blood on an FTA card.
Do I need to fast before the test?
No, fasting is not required for this genetic test.
How should I prepare for the test?
You need to provide your clinical history and undergo a genetic counselling session to draw a pedigree chart of family members affected by the condition.
When will I get the reports?
The reports are typically available within 3 to 4 weeks after samples are received.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India, with free home sample collection available across India.
Can this genetic test help with family planning?
Yes, a confirmed genetic diagnosis can help in genetic counselling and provide important information for reproductive planning, such as prenatal testing or preimplantation genetic diagnosis.
Why do I need the raw data files?
DNA Labs India is transparent and provides raw data files including FASTQ and VCF, which allow for independent bioinformatics analysis and further research.
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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