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PRKRA Gene DYT16 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

PRKRA Gene DYT16 NGS Genetic Test

Short Name: PRKRA Gene DYT16 NGS Test

Also known as: DYT16 Genetic Test, PRKRA Mutation Analysis, Dystonia 16 Genetic Test

PRKRA Gene DYT16 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. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to detect pathogenic mutations in the PRKRA gene to confirm a diagnosis of DYT16, differentiate it from other movement disorders, and inform personalized treatment strategies. It aids in genetic counseling for affected families and helps assess the risk of inheritance.

Test Code
1582
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

No specific preparation required. Ensure genetic counseling session is completed and family history is documented.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

A blood sample is drawn from a vein in the arm or collected via FTA card with a finger prick. The process is quick and minimally invasive.

Step 3

Report Delivery

Apply pressure to the collection site to prevent bleeding. Resume normal activities immediately. Store samples as directed for stability.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Complete a pre-test genetic counseling session. No fasting is required. Inform the lab of any medications or recent transfusions.
2
During the Test:Sample collection takes about 10-15 minutes. The lab processes the sample using NGS technology.
3
After the Test:Results are available in 3-4 weeks. Follow up with your physician for interpretation and next steps.

About This Test

Who Should Get This Test

The purpose of this test is to detect pathogenic mutations in the PRKRA gene to confirm a diagnosis of DYT16, differentiate it from other movement disorders, and inform personalized treatment strategies. It aids in genetic counseling for affected families and helps assess the risk of inheritance.

How to Prepare

  • Schedule a home collection or visit a lab center
  • Provide informed consent after genetic counseling
  • Ensure sample is labeled correctly with patient details
  • Transport sample at ambient room temperature

Doctor's Notes

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

"Genetic testing for DYT16 is crucial for accurate diagnosis and management, especially in families with a history of movement disorders."

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

Sample Stability

Blood samples: Stable for 48 hours at ambient temperature
Extracted DNA: Stable for months at -20°C
FTA card samples: Stable for years at room temperature
Sample Rejection Criteria:
  • Sample contaminated or hemolyzed
  • Incorrect labeling or missing patient information
  • Sample received beyond stability period
  • Inadequate sample volume for testing

Understanding Your Results

Results indicate the presence or absence of mutations in the PRKRA gene. A positive result confirms a diagnosis of DYT16, while a negative result suggests other etiologies may be considered. Genetic counseling is essential for understanding implications.
Positive Result: Pathogenic mutation detected – confirms DYT16, require genetic counseling and neurology referral
Negative Result: No pathogenic mutation – consider other genetic or non-genetic causes of symptoms
Variant of Uncertain Significance (VUS): Further testing or family studies may be needed
Carrier Status: Typically not applicable for autosomal dominant disorders like DYT16
⚠️ When to Consult a Doctor:

Consult a neurologist or geneticist immediately if symptoms worsen, for family planning advice, or to discuss treatment options such as physical therapy or medication.

Limitations

  • May not detect all possible genetic variants, including deep intronic mutations
  • Requires clinical correlation for diagnosis
  • Cannot predict disease severity or progression with certainty
  • Results should be interpreted by a qualified geneticist

Risks & Considerations

  • Minimal risk from blood draw: bruising, infection, or fainting
  • No significant risks from genetic testing itself

Interfering Factors

  • Contaminated or degraded DNA sample
  • Insufficient sample volume
  • Recent blood transfusion
  • Inadequate sample storage conditions

Frequently Asked Questions

What is the PRKRA Gene DYT16 NGS Genetic Test?
It is a next-generation sequencing test to detect mutations in the PRKRA gene, which causes DYT16, a rare genetic movement disorder.
What are the symptoms of DYT16?
Symptoms include involuntary movements, coordination difficulties, muscle stiffness, speech problems, and abnormal eye movements, typically starting in childhood or adolescence.
How is the test performed?
A blood sample is collected and analyzed using NGS technology to sequence the PRKRA gene for pathogenic variants.
What is the cost of the test?
The test costs INR 20000, which includes home sample collection across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is fasting required before the test?
No, fasting is not required for this genetic test.
What samples are accepted for testing?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted.
Can the test be done at home?
Yes, DNA Labs India offers free home sample collection for online bookings in multiple cities across India.
What does a positive result mean?
A positive result confirms mutations in the PRKRA gene, diagnosing DYT16 and guiding treatment and genetic counseling.
Is the test accurate?
Yes, NGS technology is highly accurate for detecting genetic variants, but results should be interpreted by a genetic specialist.
Are there any risks associated with the test?
Risks are minimal, primarily related to blood draw, such as bruising or infection. Genetic testing itself poses no physical risks.
What should I do after receiving the results?
Consult a neurologist or geneticist for interpretation, discuss management options, and consider genetic counseling for family members.
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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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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