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COL6A3 Gene DYT27 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

COL6A3 Gene DYT27 NGS Genetic Test

Short Name: DYT27 NGS Test

Also known as: COL6A3 Dystonia Test, DYT27 Genetic Screening, Collagen VI Dystonia Test

COL6A3 Gene DYT27 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks from sample receipt. Free home collection in 300+ cities across India.

NGS Genetic TestPediatric to Adult🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of the COL6A3 Gene DYT27 NGS Genetic Test is to detect mutations in the COL6A3 gene associated with DYT27 dystonia. This aids in confirming diagnosis, understanding genetic causes, guiding treatment decisions, and informing family planning through genetic counseling.

Test Code
1587
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
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Genetic counseling is recommended prior to testing. Provide clinical and family history for accurate analysis.

Method: Phlebotomy

Step 2

Laboratory Analysis

A blood sample is drawn via phlebotomy, or saliva/FTA card sample collected by a trained professional.

Step 3

Report Delivery

Sample is processed in the lab for NGS analysis. Results are delivered in 3-4 weeks.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:Schedule a genetic counseling session to discuss implications and provide family history.
2
During the Test:Sample collection takes about 15-30 minutes with minimal discomfort.
3
After the Test:No special care needed; resume normal activities. Await results for follow-up.

About This Test

Who Should Get This Test

The purpose of the COL6A3 Gene DYT27 NGS Genetic Test is to detect mutations in the COL6A3 gene associated with DYT27 dystonia. This aids in confirming diagnosis, understanding genetic causes, guiding treatment decisions, and informing family planning through genetic counseling.

How to Prepare

  • Ensure sample is collected in a sterile environment
  • Follow instructions for FTA card blood spot collection
  • Label samples correctly with patient details
  • Transport sample at ambient room temperature

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Early genetic testing for DYT27 can guide personalized treatment plans, improving patient outcomes and quality of life."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodPhlebotomy

Sample Stability

Blood: 24 hours at room temperature
Extracted DNA: Stable for several weeks at 4°C
FTA Card: Stable for years at room temperature if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improperly labeled or contaminated samples
  • Sample older than stability period

Understanding Your Results

Results from the COL6A3 Gene DYT27 NGS Genetic Test indicate the presence or absence of pathogenic mutations in the COL6A3 gene. A positive result supports a diagnosis of DYT27, while a negative result suggests no detectable variants, though other causes may exist.
📊

Consistent with DYT27 diagnosis; genetic counseling and personalized treatment recommended.

📊

No mutation detected; consider clinical evaluation for other dystonia types or neurological disorders.

📊

Further testing or family studies may be needed; genetic counseling advised.

⚠️ When to Consult a Doctor:

Consult a neurologist or genetic counselor if symptoms persist after negative test results, for treatment planning after positive results, or for family genetic risk assessment.

Limitations

  • ⚠May not detect all types of genetic variants (e.g., large deletions)
  • ⚠Results require interpretation by a genetic counselor
  • ⚠Cannot predict disease severity or progression with certainty
  • ⚠Limited to COL6A3 gene; other dystonia causes not covered

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Potential psychological impact of genetic results
  • ●Privacy concerns with genetic data

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Insufficient sample volume
  • ●Hemolyzed blood sample
  • ●Technical errors in NGS sequencing

Compare With Similar Tests

TestCOL6A3 Gene DYT27 NGS Genetic Test
ComparisonCOL6A3 Gene DYT27 NGS Genetic Test

Frequently Asked Questions

What is DYT27?
DYT27 is a rare genetic dystonia caused by mutations in the COL6A3 gene, leading to involuntary muscle contractions and abnormal postures, often starting in childhood.
How is the COL6A3 Gene DYT27 NGS Genetic Test performed?
The test uses Next-Generation Sequencing (NGS) technology to analyze DNA from a blood or saliva sample for mutations in the COL6A3 gene.
Who should consider this genetic test?
Individuals with symptoms of dystonia, especially with childhood onset, or those with a family history of similar conditions, should consider this test after consultation with a healthcare provider.
What is the cost of the COL6A3 Gene DYT27 NGS Genetic Test in India?
The test costs INR 20,000, which includes sample collection, analysis, and reporting. Prices may vary slightly by location.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across many cities in India for online bookings of this test.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks from when the sample is received by the laboratory.
What do the test results mean?
A positive result indicates a pathogenic mutation in the COL6A3 gene, supporting a DYT27 diagnosis. A negative result means no such mutation was detected, but further evaluation may be needed.
Are there any risks associated with the test?
The test involves minimal risks, such as minor bruising from blood draw. Genetic results may have emotional implications, so genetic counseling is recommended.
How should I prepare for the test?
No special preparation is needed. Provide your clinical and family history to your doctor or genetic counselor before testing.
Can this test be used for prenatal diagnosis?
This test is not standard for prenatal diagnosis; consult a genetic counselor for appropriate prenatal testing options if there is a family history.
What treatments are available for DYT27?
Treatment may include medications to manage symptoms, physical therapy, or deep brain stimulation (DBS) in severe cases, personalized based on genetic findings.
How accurate is the NGS Genetic Test for DYT27?
NGS technology is highly accurate for detecting single-nucleotide variants, but it may not detect all types of mutations. Interpretation by a genetic expert is essential for accuracy.
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.

LIMS Integration

Your Data Privacy

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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