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TAF1 Gene DYT3 NGS Genetic Test

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TAF1 Gene DYT3 NGS Genetic Test

Also known as: DYT3 Genetic Test, TAF1 Gene Mutation Analysis, X-linked Dystonia-Parkinsonism Genetic Test

TAF1 Gene DYT3 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 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 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 clinical diagnosis of DYT3 (TAF1-related dystonia-parkinsonism) by detecting pathogenic mutations in the TAF1 gene, thereby enabling appropriate management and genetic counseling.

Test Code
4028
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
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. The patient should provide a detailed clinical history and, if possible, a pedigree chart of family members affected with TAF1-related disease. Genetic counseling is recommended before the test.

Method: Venipuncture or FTA card blood spot

Step 2

Laboratory Analysis

A blood sample is drawn by a trained phlebotomist, or a few drops of blood are collected on an FTA card. The procedure is quick and minimally invasive.

Step 3

Report Delivery

No special precautions are needed. The patient can resume normal activities. The sample is sent to the laboratory for NGS analysis.

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

Patient Instructions

1
Before the Test:Before the test, individuals should undergo genetic counseling to understand the purpose, benefits, limitations, and implications of the test. A detailed medical and family history is documented.
2
During the Test:During the test, a blood sample is collected or an FTA card spot is taken. The sample is labeled and sent to the genetics laboratory for NGS analysis.
3
After the Test:After the test, results are reviewed by a molecular geneticist and reported. The healthcare provider explains the results and discusses next steps, including management, surveillance, and family counseling.

About This Test

Who Should Get This Test

To confirm the clinical diagnosis of DYT3 (TAF1-related dystonia-parkinsonism) by detecting pathogenic mutations in the TAF1 gene, thereby enabling appropriate management and genetic counseling.

How to Prepare

  • No fasting required.
  • Provide a valid ID and completed test requisition form.
  • For home collection, ensure availability at the scheduled time.
  • FTA card samples can be collected at home with the provided kit.

Doctor's Notes

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

"This genetic test plays a crucial role in confirming DYT3 and guiding family planning. Early diagnosis helps in management and genetic counseling of at-risk relatives."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per laboratory protocol
ContainerEDTA vacutainer / FTA card
Collection MethodVenipuncture or FTA card blood spot

Sample Stability

Whole blood EDTA: 24–48 hours at room temperature
Extracted DNA: up to 2 weeks at -20°C
FTA card: stable for several months at room temperature
Sample Rejection Criteria:
  • Hemolyzed sample
  • Mislabeled sample
  • Cliotted blood sample
  • Sample not reaching laboratory within 48 hours without proper storage

Understanding Your Results

This test identifies genetic variants in the TAF1 gene associated with DYT3 dystonia-parkinsonism. The results should be interpreted by a clinical geneticist or neurologist in the context of the patient's clinical presentation and family history.
📊

Pathogenic variant detected

Confirms the clinical diagnosis of DYT3. Genetic counseling is recommended for the patient and at-risk family members.

📊

Likely pathogenic variant detected

Highly suggestive of pathogenicity; requires correlation with clinical findings and possibly segregation analysis.

📊

No pathogenic variant detected

Does not exclude DYT3 if clinical suspicion is high; other genetic or non-genetic causes should be considered.

📊

Variant of uncertain significance (VUS)

Variant cannot be classified; additional testing, family studies, or functional studies may be helpful.

⚠️ When to Consult a Doctor:

If you have symptoms suggestive of DYT3 or a family history of X-linked dystonia-parkinsonism, consult a neurologist or clinical geneticist for evaluation and genetic testing.

Limitations

  • ⚠This NGS assay detects single-nucleotide variants and small insertions/deletions in the TAF1 gene. Large rearrangements and repetitive variants may not be detected.
  • ⚠Variants of uncertain significance (VUS) may be reported; additional testing or family studies may be required.
  • ⚠Clinical correlation and genetic counseling are essential for result interpretation.

Risks & Considerations

  • ●Minimal risk of bruising at the venipuncture site
  • ●Mild pain or discomfort during blood collection
  • ●Fainting in rare cases
  • ●Very small risk of infection at the puncture site

Interfering Factors

  • ●Poor DNA quality
  • ●Low sequencing coverage
  • ●Sample mix-up
  • ●Low-level mosaicism
  • ●Contaminants from heparin or EDTA (if extracted DNA)

Compare With Similar Tests

TestTAF1 Gene DYT3 NGS Genetic TestSanger Sequencing for TAF1Targeted Dystonia PanelWhole Exome Sequencing
ComparisonTAF1 Gene DYT3 NGS Genetic Test

Frequently Asked Questions

What is the TAF1 Gene DYT3 NGS Genetic Test?
It is a next-generation sequencing test that detects mutations in the TAF1 gene, which are responsible for DYT3, a form of X-linked dystonia-parkinsonism.
What is DYT3 dystonia?
DYT3, also called X-linked dystonia-parkinsonism, is a rare inherited movement disorder caused by mutations in the TAF1 gene. It leads to involuntary muscle contractions and can begin in childhood or adulthood.
Who should consider this genetic test?
Individuals with symptoms suggestive of DYT3, a family history of X-linked dystonia, or those with atypical parkinsonism/dystonia that responds poorly to treatment should consider testing.
What is the cost of the test in India?
The test is offered by DNA Labs India at INR 20,000. This includes home sample collection and genetic counseling in select cases.
What type of sample is required?
The test requires either a blood sample, extracted DNA, or a single drop of blood spotted on an FTA card.
Is fasting required before the test?
No, fasting is not required. The test can be done at any time of the day.
How is the NGS test performed?
The sample is sent to the laboratory, where DNA is extracted and the TAF1 gene is analyzed using next-generation sequencing to identify small mutations like single nucleotide changes and small insertions/deletions.
How long does it take to get the report?
Reports are generally available within 3 to 4 weeks from the date the sample reaches the laboratory.
What does a positive result mean?
A positive result means a pathogenic or likely pathogenic mutation in the TAF1 gene was detected, confirming the genetic diagnosis of DYT3. Genetic counseling is strongly recommended.
What does a negative result mean?
A negative result means no pathogenic variant was found in the TAF1 gene. It does not completely rule out DYT3 if clinical suspicion is very high; other genetic causes or testing methods may be considered.
Will this test detect all types of TAF1 mutations?
NGS primarily detects point mutations and small insertions/deletions. Large deletions, deep intronic variants, or complex rearrangements may not be detected. Your geneticist can advise if additional testing is needed.
Is genetic counseling recommended for this test?
Yes, genetic counseling is strongly recommended before and after the test to understand the inheritance pattern, implications for family members, and reproductive options.
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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