PIK3R5 Gene Ataxia-Oculomotor Apraxia Type 3 NGS Genetic Test
Short Name: PIK3R5 AOA3 NGS Test
Also known as: AOA3 Genetic Test, PIK3R5 Gene Sequencing
PIK3R5 Gene Ataxia-Oculomotor Apraxia Type 3 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.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to diagnose Ataxia-Oculomotor Apraxia Type 3 by detecting pathogenic mutations in the PIK3R5 gene using NGS technology. It also serves for carrier screening in individuals with a family history of AOA3, aiding in genetic counseling and reproductive planning.
- Test Code
- 1519
- 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
Sample Collection
Provide detailed clinical history of the patient and undergo a genetic counseling session to draw a pedigree chart of family members affected with AOA3.
Laboratory Analysis
Blood sample collection via venipuncture or use of extracted DNA or FTA card.
Report Delivery
Follow standard post-collection care; sample is sent to the laboratory for processing.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose Ataxia-Oculomotor Apraxia Type 3 by detecting pathogenic mutations in the PIK3R5 gene using NGS technology. It also serves for carrier screening in individuals with a family history of AOA3, aiding in genetic counseling and reproductive planning.
How to Prepare
- Provide complete clinical history of the patient
- Undergo a genetic counseling session for pedigree chart of affected family members
- Collect blood or DNA sample as specified
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic testing for AOA3 is crucial for accurate diagnosis, management, and informed family planning, especially in individuals with a family history or symptoms suggestive of the condition."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
- Hemolyzed or lipemic samples
- Insufficient sample volume
- Improperly labeled or contaminated samples
Understanding Your Results
Normal
No pathogenic variants detected in the PIK3R5 gene; low likelihood of AOA3 based on this gene.
Action: Consider other genetic or environmental causes if symptoms persist; consult with a neurologist or geneticist.
Carrier
One pathogenic variant detected; individual is a carrier for AOA3 but typically asymptomatic.
Action: Genetic counseling recommended for family planning and risk assessment for offspring.
Affected
Two pathogenic variants detected; consistent with diagnosis of AOA3.
Action: Initiate appropriate management, supportive care, and genetic counseling for the patient and family.
Consult a healthcare provider if symptoms of ataxia or oculomotor apraxia are present, for carrier screening in families with AOA3 history, or for genetic counseling and management guidance after test results.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or deep intronic variants
- ⚠Results require interpretation in conjunction with clinical findings and genetic counseling
- ⚠Does not rule out other genetic or non-genetic causes of ataxia
Risks & Considerations
- ●Minor bruising or pain at the puncture site
- ●Rare risk of infection or hematoma
Interfering Factors
- ●Poor sample quality or insufficient DNA
- ●Contamination during sample collection or processing
Frequently Asked Questions
What is Ataxia-Oculomotor Apraxia Type 3 (AOA3)?
How is AOA3 inherited?
What are the common symptoms of AOA3?
How is the PIK3R5 Gene AOA3 NGS Genetic Test performed?
What is the cost of this genetic test?
Is home sample collection available for this test?
How long does it take to receive the test results?
Can this test detect carriers of AOA3?
What should I do if the test results are positive?
Is genetic counseling provided with this test?
Are there other tests for diagnosing ataxia?
How can I book the PIK3R5 Gene AOA3 NGS Genetic Test?
Related Tests
Angelman Syndrome Test
₹10,000Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test
₹14,000Episodic Ataxia Type 1 Hotspot Test
₹11,500Episodic Ataxia Comprehensive Profile Hotspot Test
₹16,000Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test
₹7,500Analyzer 18 SMA 18 Test Panel
₹1,755Reference 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.
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.
Book Your Test
Enter your details and we'll connect you within 15 minutes.