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PNKD Gene Paroxysmal nonkinesigenic dyskinesia NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

PNKD Gene Paroxysmal nonkinesigenic dyskinesia NGS Genetic Test

Short Name: PNKD NGS Genetic Test

Also known as: PNKD Gene Sequencing, PNKD Gene Mutation Test, Paroxysmal Dyskinesia Genetic Test

PNKD Gene Paroxysmal nonkinesigenic dyskinesia 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 issued within 3 to 4 weeks after the sample is received at 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 detect pathogenic or likely pathogenic variants in the PNKD gene. In an individual with clinically suspected paroxysmal nonkinesigenic dyskinesia, identifying a disease-causing variant can support the diagnosis, help guide clinical management, and allow genetic counselling and testing for at-risk family members.

Test Code
4445
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are issued within 3 to 4 weeks after the sample is received at the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. The referring physician may request genetic counselling and a pedigree chart before testing. Please carry any previous records, clinical history, and the doctor's prescription.

Method: Venipuncture or FTA card spot collection

Step 2

Laboratory Analysis

A trained phlebotomist will collect blood in an EDTA tube or a few drops of blood on an FTA card, depending on the selected sample type.

Step 3

Report Delivery

No special precautions are needed. Your sample will be transported to the laboratory for NGS analysis.

Timeline: Reports are issued within 3 to 4 weeks after the sample is received at the laboratory.

Patient Instructions

1
Before the Test:No fasting is required. The clinician will review the patient's history, family pedigree, and previous neurological examination findings before recommending the test.
2
During the Test:A small blood sample is collected, or a few drops are placed on an FTA card. The procedure is quick and generally painless.
3
After the Test:There are no activity restrictions after sample collection. The report will be shared after the testing and interpretation process is complete.

About This Test

Who Should Get This Test

The purpose of this test is to detect pathogenic or likely pathogenic variants in the PNKD gene. In an individual with clinically suspected paroxysmal nonkinesigenic dyskinesia, identifying a disease-causing variant can support the diagnosis, help guide clinical management, and allow genetic counselling and testing for at-risk family members.

How to Prepare

  • Fasting is not required
  • Complete relevant clinical history and family pedigree
  • Ensure the sample tube or FTA card is labelled correctly
  • Book online to avail free home sample collection

Doctor's Notes

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

"In neurology practice, unexplained paroxysmal movement episodes with normal examination between attacks warrant genetic testing. PNKD gene NGS testing helps confirm the clinical diagnosis and enables accurate genetic counselling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required for DNA extraction
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card spot collection

Sample Stability

Blood in EDTA
Extracted DNA
FTA Card
Sample Rejection Criteria:
  • Incorrectly labelled or unlabelled sample
  • Visible haemolysis or clotted blood
  • Sample not received in appropriate DNA stabilisation or collection tube
  • Inadequate sample volume

Understanding Your Results

This molecular test is intended to support the clinical diagnosis of paroxysmal nonkinesigenic dyskinesia. Results must be interpreted in the context of symptoms, family history, and neurological examination.
📊

Negative / No pathogenic variant detected

No clinically significant PNKD gene variant was detected. A genetic cause due to another gene should still be considered.

📊

Positive / Pathogenic variant detected

A disease-causing variant is present. This confirms the genetic diagnosis in the appropriate clinical context and provides important information for family testing.

📊

Variant of uncertain significance (VUS)

A DNA change was found whose disease association is not yet established. Additional family studies and clinical correlation may be needed.

⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if you experience unexplained sudden involuntary movements that occur without an apparent trigger, especially if there is a family history of PNKD or paroxysmal dyskinesia.

Limitations

  • ⚠This test is focused on the PNKD gene and does not analyse the entire genome
  • ⚠A negative result does not exclude PNKD caused by mutations in other genes
  • ⚠Certain large deletions, duplications or regulatory variants may not be detected by standard NGS
  • ⚠Variant interpretation may require additional family testing

Risks & Considerations

  • ●No significant medical risks are associated with this genetic test
  • ●Blood collection may cause mild discomfort or bruising
  • ●FTA card sampling may cause a small prick sensation

Interfering Factors

  • ●Poor DNA quality or quantity may affect sequencing results
  • ●Contamination during sample collection or processing
  • ●Incorrect or incomplete clinical and family history may limit interpretation
  • ●Rare genetic variants not covered by the NGS panel may be missed

Compare With Similar Tests

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Frequently Asked Questions

What is the PNKD Gene NGS Genetic Test?
PNKD Gene NGS Genetic Test is a next generation sequencing test that looks for mutations in the PNKD gene. PNKD stands for paroxysmal nonkinesigenic dyskinesia, a rare movement disorder characterised by sudden involuntary movements that are not triggered by sudden movement or stress.
How much does the PNKD Gene NGS Genetic Test cost at DNA Labs India?
The test costs Rs 20000 at DNA Labs India. This includes NGS analysis of the PNKD gene, clinical interpretation, and the final report. Free home sample collection is available for online bookings at select locations.
What is paroxysmal nonkinesigenic dyskinesia?
It is a rare genetic neurological disorder that causes sudden, uncontrollable movements of the limbs, trunk, or face. Episodes may last from seconds to minutes, are not triggered by movement or stress, and movement and muscle tone are usually normal between episodes.
What type of sample is needed for this test?
The test can be performed on blood, extracted DNA, or one drop of blood on an FTA card. The sample type may be selected based on the patient's condition and the referring doctor's preference.
Is fasting required before the PNKD gene test?
No, fasting is not required for this genetic test. You can eat and drink normally before providing the sample.
How long does it take to get the report?
The report is generally available within 3 to 4 weeks after the sample is received at the laboratory.
Why is NGS used for PNKD genetic testing?
NGS allows multiple genes to be sequenced simultaneously in a single test. It is faster and more cost-effective than traditional Sanger sequencing when analysing genetic conditions such as PNKD and can help identify mutations with high accuracy.
What does a negative result mean?
A negative result means no clinically significant mutation was found in the PNKD gene. It does not completely rule out PNKD because a small number of cases may be caused by mutations in other genes or by variants not detected by this test.
Will I receive the raw data and VCF files with my report?
Yes, DNA Labs India provides raw data, FASTQ files, and VCF files along with the conclusive clinical test report. This ensures transparency and allows further bioinformatics analysis if needed.
Who should consider this test?
This test may be considered for individuals with sudden, involuntary movements that occur without an obvious trigger, especially if there is a family history of paroxysmal dyskinesia or if the diagnosis remains uncertain after neurological evaluation.
Do I need genetic counselling before the test?
DNA Labs India recommends genetic counselling sessions to draw a pedigree chart of affected family members before testing. A neurologist or geneticist may use this information to guide the appropriate genetic test and counselling.
Is home sample collection available?
Yes, free home sample collection is available for online bookings of this test across India. It is offered in cities such as Mumbai, Delhi, Bengaluru, Hyderabad, Chennai, Kolkata and many other locations.
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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