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APTX Gene Ataxia-Oculomotor Apraxia Type 1 NGS Genetic Test

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APTX Gene Ataxia-Oculomotor Apraxia Type 1 NGS Genetic Test

Short Name: APTX Gene AOA1 NGS Test

Also known as: AOA1, Ataxia with Oculomotor Apraxia Type 1

APTX Gene Ataxia-Oculomotor Apraxia Type 1 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 3 to 4 weeks. Free home collection in 300+ cities across India.

NGS Genetic TestChildhood to Adulthood🏠 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 identify pathogenic mutations in the APTX gene to diagnose Ataxia-Oculomotor Apraxia Type 1, enabling accurate clinical management, prognostic assessment, and informed genetic counseling for patients and their families.

Test Code
1522
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation is required. Provide detailed clinical history and family pedigree as advised during the pre-test genetic counseling session.

Method: Venipuncture or Finger-prick for FTA card

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture, or a small blood drop can be placed on an FTA card. The process is quick and minimally invasive.

Step 3

Report Delivery

Apply gentle pressure to the puncture site to prevent bruising. Resume normal activities immediately after sample collection.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Undergo a genetic counseling session to discuss test implications, provide family history, and understand potential outcomes.
2
During the Test:The test involves Next-Generation Sequencing (NGS) of the APTX gene from a blood or DNA sample to identify mutations.
3
After the Test:Receive genetic counseling to interpret results, discuss management options, and consider family planning if applicable.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic mutations in the APTX gene to diagnose Ataxia-Oculomotor Apraxia Type 1, enabling accurate clinical management, prognostic assessment, and informed genetic counseling for patients and their families.

How to Prepare

  • Ensure proper patient identification and consent
  • Use sterile collection equipment
  • Label samples accurately with patient details
  • Handle FTA cards as per manufacturer guidelines

Doctor's Notes

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

"Genetic testing for APTX gene mutations is essential for confirming AOA1 diagnosis, enabling tailored management and genetic counseling for families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or Finger-prick for FTA card

Sample Stability

Blood samples: stable at 2-8°C for up to 48 hours
FTA card samples: stable at room temperature for several days if stored dry
Sample Rejection Criteria:
  • Clotted or hemolyzed blood sample
  • Insufficient sample volume
  • Improperly labeled or contaminated samples
  • Damaged FTA cards

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the APTX gene. A positive result confirms a diagnosis of AOA1, while a negative result does not entirely rule out the condition if clinical symptoms persist, as other genetic factors may be involved.
Positive: Pathogenic variants detected, confirming Ataxia-Oculomotor Apraxia Type 1
Negative: No pathogenic variants found; clinical correlation recommended
Variant of uncertain significance: Requires further analysis, family studies, or functional assays
⚠️ When to Consult a Doctor:

Consult a neurologist or geneticist if you experience symptoms such as coordination difficulties, tremors, slurred speech, or abnormal eye movements, especially with a family history of neurological disorders.

Limitations

  • ⚠May not detect all possible mutations in the APTX gene
  • ⚠Results require interpretation by a clinical geneticist
  • ⚠Cannot predict disease severity or exact age of onset
  • ⚠Does not assess for other genetic causes of ataxia

Risks & Considerations

  • ●Minimal risk from blood draw, such as slight pain, bruising, or rare infection

Interfering Factors

  • ●Sample contamination
  • ●Degraded or insufficient DNA
  • ●Technical errors in sequencing
  • ●Hemolyzed or clotted blood samples

Frequently Asked Questions

What is Ataxia-Oculomotor Apraxia Type 1 (AOA1)?
AOA1 is a rare genetic disorder that affects the nervous system, causing progressive issues with coordination, eye movements, and other neurological functions. It is inherited in an autosomal recessive pattern.
What causes AOA1?
AOA1 is caused by mutations in the APTX gene, which provides instructions for a protein involved in DNA repair. Inheritance requires both parents to carry a mutated gene.
What are the common symptoms of AOA1?
Symptoms typically begin in childhood or adolescence and include difficulty with balance and coordination, tremors, slurred speech, impaired fine motor skills, and abnormal eye movements (oculomotor apraxia).
How is AOA1 diagnosed?
Diagnosis involves genetic testing, specifically Next-Generation Sequencing (NGS) of the APTX gene, along with neurological exams and imaging tests to support findings.
What does the APTX gene do?
The APTX gene encodes a protein called aprataxin, which plays a role in repairing DNA damage, particularly in the nervous system.
What is the NGS genetic test for AOA1?
It is a Next-Generation Sequencing test that sequences the APTX gene to detect mutations with high accuracy, providing a definitive diagnosis for AOA1.
What is the cost of the AOA1 NGS genetic test in India?
The cost at DNA Labs India is INR 20000, which includes sample collection, genetic counseling, testing, and report delivery.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across numerous cities in India when booked online.
How long does it take to get the test results?
Results are typically delivered within 3 to 4 weeks after sample collection.
Can this test detect all mutations in the APTX gene?
While NGS is highly accurate, it may not detect all possible mutations, such as large deletions or complex variants. Interpretation by a geneticist is essential.
What should I do if the test result is positive?
A positive result confirms AOA1. Consult a neurologist or geneticist for management strategies, supportive care, and family genetic counseling.
Is genetic counseling provided with the test?
Yes, DNA Labs India includes a pre-test genetic counseling session to draw a family pedigree and a post-test session to interpret results and discuss implications.
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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