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PNKP Gene Ataxia-Oculomotor Apraxia Type 4 NGS Genetic Test

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PNKP Gene Ataxia-Oculomotor Apraxia Type 4 NGS Genetic Test

Short Name: PNKP Gene AOA4 NGS Test

Also known as: AOA4 Genetic Test, PNKP Gene Test, Ataxia with Oculomotor Apraxia Type 4 Test

PNKP Gene Ataxia-Oculomotor Apraxia Type 4 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 TestPediatric to Adolescent🏠 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 diagnose Ataxia-Oculomotor Apraxia Type 4 by identifying pathogenic mutations in the PNKP gene using NGS technology.

Test Code
1521
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

Provide clinical history of the patient and attend a genetic counseling session to draw a pedigree chart of affected family members.

Method: Venipuncture for blood sample

Step 2

Laboratory Analysis

Blood sample collection by a trained professional via venipuncture.

Step 3

Report Delivery

Sample is processed in the laboratory for DNA extraction and NGS analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Attend genetic counseling, provide clinical and family history, and ensure no fasting is required for this test.
2
During the Test:Blood sample collection; procedure is similar to standard blood draw.
3
After the Test:Wait for 3 to 4 weeks for results; follow up with genetic counseling to understand findings.

About This Test

Who Should Get This Test

To diagnose Ataxia-Oculomotor Apraxia Type 4 by identifying pathogenic mutations in the PNKP gene using NGS technology.

How to Prepare

  • Provide detailed clinical history and family pedigree during genetic counseling
  • Ensure blood sample is collected in a sterile environment by a qualified professional
  • Follow standard blood draw procedures to avoid hemolysis or contamination

Doctor's Notes

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

"Genetic testing for AOA4 is crucial for early diagnosis, family planning, and understanding disease progression, especially in families with a history of neurological disorders."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture for blood sample

Sample Stability

Blood samples should be stored at ambient temperature and processed within 24 hours for optimal results
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Incorrect sample type or labeling

Understanding Your Results

Results indicate the presence or absence of mutations in the PNKP gene associated with Ataxia-Oculomotor Apraxia Type 4.
Normal Result: No pathogenic variants detected in the PNKP gene, suggesting low risk for AOA4 based on this test
Abnormal Result: Pathogenic variant detected, indicative of AOA4, requiring further clinical evaluation and genetic counseling
Variant of Uncertain Significance (VUS): Genetic change found but not conclusively linked to AOA4, may need additional testing or family studies
⚠️ When to Consult a Doctor:

If symptoms such as ataxia, oculomotor apraxia, tremors, or speech difficulties are present, especially with a family history of similar conditions, consult a neurologist or geneticist.

Limitations

  • ⚠Symptoms may overlap with other neurological disorders, requiring comprehensive evaluation
  • ⚠Genetic counseling is essential for proper interpretation of results
  • ⚠Not all genetic variants may be detected due to technological limitations

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Rare risk of infection at puncture site
  • ●Emotional impact of test results, addressed through genetic counseling

Interfering Factors

  • ●Sample contamination
  • ●DNA degradation or insufficient sample quality
  • ●Technical errors during sequencing

Frequently Asked Questions

What is PNKP Gene Ataxia-Oculomotor Apraxia Type 4?
It is a rare genetic disorder caused by mutations in the PNKP gene, affecting the nervous system and leading to symptoms like coordination difficulties, eye movement issues, and speech problems.
What are the common symptoms of AOA4?
Symptoms include difficulty with coordination and balance, tremors, abnormal eye movements, speech difficulties, and progressive walking impairment, often starting in childhood or adolescence.
How is AOA4 diagnosed?
Diagnosis involves clinical evaluation, family history assessment, and genetic testing such as the PNKP Gene NGS Test to identify mutations in the PNKP gene.
What does the NGS genetic test involve?
The test uses Next-Generation Sequencing technology to analyze the PNKP gene for mutations, requiring a blood or DNA sample.
What is the cost of the PNKP Gene AOA4 NGS Genetic Test?
The test costs INR 20000 at DNA Labs India, which includes the test and genetic counseling.
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.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive test result mean?
A positive result indicates a pathogenic mutation in the PNKP gene, suggesting a diagnosis of AOA4, and should be interpreted with genetic counseling.
Can this test be used for family planning purposes?
Yes, genetic testing can help assess carrier status and risks for family members, aiding in informed family planning decisions.
What is included in the test price?
The price includes the NGS genetic test cost and genetic counseling sessions to help understand the results.
Are there any risks associated with the test?
Risks are minimal and include minor bruising from blood draw and emotional impacts, which are managed through genetic counseling.
How should I prepare for the test?
No fasting is required; provide clinical history and attend a genetic counseling session before sample collection.
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

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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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