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TUBB4A Gene DYT4 NGS Genetic Test

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TUBB4A Gene DYT4 NGS Genetic Test

Short Name: TUBB4A DYT4 NGS

Also known as: TUBB4A Gene DYT4 Test, DYT4 Dystonia Genetic Test, TUBB4A Mutation Analysis

TUBB4A Gene DYT4 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 The results are typically available within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS 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 purpose of this test is to confirm or rule out a clinical diagnosis of DYT4 dystonia by identifying pathogenic variants in the TUBB4A gene. It aids clinicians in providing precise genetic counseling, prognosis, and treatment planning for patients with symptoms suggestive of TUBB4A-related movement disorders.

Test Code
4022
Price
₹20,000
Sample Type
Blood or Extracted DNA or one drop Blood on FTA Card
Result Time
The results are typically 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 the test to draw a pedigree chart and assess family history. The patient's clinical history and symptoms should be provided to the referring physician.

Method: Venipuncture or FTA card blood spot

Step 2

Laboratory Analysis

A blood sample is collected via venipuncture or a single drop of blood on an FTA card, depending on patient convenience. The procedure is quick and minimally invasive.

Step 3

Report Delivery

The sample is sent to the laboratory at ambient temperature. The patient may resume normal activities immediately. Results will be available in 3-4 weeks and shared on the online portal, email, and WhatsApp.

Timeline: The results are typically available within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:Please provide the clinician with your complete medical and family history. No special preparation is needed.
2
During the Test:The sample collection process takes only a few minutes. You may feel a slight pinch during blood draw.
3
After the Test:You can leave immediately after sample collection. The laboratory will notify you when results are ready.

About This Test

Who Should Get This Test

The purpose of this test is to confirm or rule out a clinical diagnosis of DYT4 dystonia by identifying pathogenic variants in the TUBB4A gene. It aids clinicians in providing precise genetic counseling, prognosis, and treatment planning for patients with symptoms suggestive of TUBB4A-related movement disorders.

How to Prepare

  • No fasting is required.
  • The patient should carry valid ID and prescription if applicable.
  • For FTA card, a drop of blood is applied to the designated spot.
  • Ensure sample is labeled correctly.

Doctor's Notes

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

"This NGS-based genetic test plays a crucial role in the precise diagnosis of DYT4 dystonia, enabling appropriate genetic counseling and management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or one drop Blood on FTA Card
Collection MethodVenipuncture or FTA card blood spot

Sample Stability

Whole blood sample: 24-48 hours at room temperature
Extracted DNA: Stable for several months at -20°C
FTA card: Stable for years at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Received beyond acceptable time without proper storage
  • Insufficient sample quantity
  • Mismatched labeling or documentation

Understanding Your Results

The genetic test results should be interpreted by a qualified clinician in the context of the patient's symptoms and family history.
📊

Pathogenic variant identified

Confirms the clinical diagnosis of TUBB4A-related DYT4 dystonia. Genetic counseling is recommended for the patient and family members.

📊

Variant of unknown significance (VUS)

Clinical significance is uncertain. Additional testing or segregation analysis may be needed to clarify pathogenicity.

📊

No pathogenic variant detected

Reduces the likelihood of TUBB4A-associated disease. Other genetic or non-genetic causes should be explored.

⚠️ When to Consult a Doctor:

If you or a family member experience symptoms such as involuntary muscle contractions, abnormal postures, tremors, or difficulty with movement, consult a neurologist or a genetic specialist for evaluation and possible genetic testing.

Limitations

  • ⚠This test detects mutations only in the TUBB4A gene; other dystonia genes are not analyzed.
  • ⚠A negative result does not completely exclude DYT4 dystonia if clinical suspicion remains high.
  • ⚠Variant classification may require further investigation and familial segregation studies.
  • ⚠Only standard samples are accepted; sample degradation may affect performance.

Risks & Considerations

  • ●Minimal risk of bruising, pain, or bleeding at the puncture site
  • ●Very low risk of infection with sterile equipment

Interfering Factors

  • ●Inadequate DNA quantity or quality
  • ●Contamination during sample collection
  • ●Low sequencing coverage for specific exons
  • ●Presence of variants of unknown significance

Compare With Similar Tests

TestTUBB4A Gene DYT4 NGS Genetic TestTargeted Sanger SequencingDystonia NGS PanelWhole Exome Sequencing
ComparisonTUBB4A Gene DYT4 NGS Genetic Test

Frequently Asked Questions

What is the TUBB4A Gene DYT4 NGS Genetic Test?
It is a Next Generation Sequencing (NGS) based test that screens the TUBB4A gene for mutations associated with DYT4 dystonia, a rare inherited movement disorder.
What is DYT4 dystonia?
DYT4 dystonia is a genetic neurological disorder characterized by involuntary muscle contractions, abnormal postures, and tremors. It is caused by mutations in the TUBB4A gene and typically begins in childhood or adolescence.
What are the symptoms of DYT4 dystonia?
Symptoms include involuntary muscle contractions and spasms, abnormal postures, tremors, difficulty with fine motor skills, difficulty walking and balancing, and muscle pain.
Who should get this genetic test?
This test is recommended for individuals with symptoms suggestive of dystonia, a family history of DYT4 dystonia, or those suspected to have a TUBB4A-related movement disorder after a neurological evaluation.
Is fasting required before the TUBB4A Gene DYT4 NGS Genetic Test?
No, fasting is not required for this test. You can eat and drink normally before sample collection.
What sample types are accepted?
The test can be performed on whole blood (EDTA), extracted DNA, or a single drop of blood on an FTA card.
How long does it take to get the results?
The reports are typically available within 3 to 4 weeks from the date the sample is received in the laboratory.
What is the cost of the TUBB4A Gene DYT4 NGS Genetic Test?
The test is priced at INR 20,000, which includes home sample collection (in eligible cities), NGS testing, clinical analysis, and a conclusive report.
Do I need a doctor’s prescription for this test?
Yes, it is advisable to have a healthcare provider's prescription or a referral, especially for genetic counseling and insurance purposes. A pre-test genetic counseling session is also recommended.
Will I receive raw data files along with the report?
Yes, DNA Labs India provides raw data files (FASTQ and VCF) along with the clinical report, ensuring full transparency.
How accurate is NGS for detecting TUBB4A mutations?
NGS is a highly accurate and reliable method for detecting mutations in the TUBB4A gene. It provides high-depth sequencing coverage and identifies pathogenic variants with confidence.
Can a negative result rule out DYT4 dystonia completely?
A negative result significantly reduces the likelihood of TUBB4A-associated dystonia, but it does not entirely rule out the condition if there is strong clinical suspicion. Other genetic causes may also need to be explored.
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.

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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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