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AARS2 Gene Combined oxidative phosphorylation deficiency type 8 NGS Genetic Test

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AARS2 Gene Combined oxidative phosphorylation deficiency type 8 NGS Genetic Test

Short Name: AARS2 Gene COXPD8 Test

Also known as: COXPD8 Genetic Test, AARS2 Mutation Analysis, Combined OXPHOS Deficiency Type 8 Test

AARS2 Gene Combined oxidative phosphorylation deficiency type 8 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS, Genetic Analysis on Blood samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To identify mutations in the AARS2 gene for the diagnosis of Combined Oxidative Phosphorylation Deficiency Type 8 (COXPD8) in individuals with suspected symptoms or family history.

Test Code
1948
Price
₹20,000
Sample Type
Blood
Result Time
3 to 4 weeks
Fasting Required
No
Method
NGS, Genetic Analysis
Step 1

Sample Collection

Genetic counseling session and review of clinical history and family pedigree recommended.

Step 2

Laboratory Analysis

Blood sample collected via venipuncture from a vein in the arm.

Step 3

Report Delivery

Sample transported to laboratory for NGS analysis under controlled conditions.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and informed consent are required to discuss test implications, benefits, and limitations.
2
During the Test:A blood sample is collected via standard venipuncture procedure, typically taking a few minutes.
3
After the Test:Sample is processed in the lab, and results are interpreted by geneticists. Reports include findings and recommendations.

About This Test

Who Should Get This Test

To identify mutations in the AARS2 gene for the diagnosis of Combined Oxidative Phosphorylation Deficiency Type 8 (COXPD8) in individuals with suspected symptoms or family history.

How to Prepare

  • No fasting required
  • Ensure proper labeling of sample with patient details
  • Follow instructions from home collection kit if applicable
  • Bring prescription and identification

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Early diagnosis of COXPD8 through genetic testing can guide management, family planning, and genetic counseling for at-risk families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood

Sample Stability

Blood sample stable at room temperature for up to 48 hours
Store at 2-8°C if there is a delay in processing
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Incorrectly labeled or unlabeled sample
  • Insufficient sample volume

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the AARS2 gene associated with COXPD8.
📊

Positive for pathogenic mutations

Diagnosis of COXPD8 confirmed. Recommend genetic counseling, specialist referral, and family screening.

📊

Negative for pathogenic mutations

COXPD8 unlikely based on genetic testing, but clinical correlation with symptoms is essential. Consider other differential diagnoses.

📊

Variant of uncertain significance (VUS)

Further testing, functional studies, or family studies may be required for clarification. Genetic counseling advised.

⚠️ When to Consult a Doctor:

Consult a geneticist or neurologist if symptoms suggestive of COXPD8 are present, or if there is a family history of similar conditions, for appropriate testing and management.

Limitations

  • ⚠May not detect all types of genetic variants
  • ⚠Variants of uncertain significance may be identified
  • ⚠Requires clinical correlation and genetic counseling for interpretation

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Potential psychological impact of genetic results
  • ●Risk of identifying variants of uncertain significance

Interfering Factors

  • ●Poor sample quality
  • ●Contamination during collection
  • ●Insufficient sample volume

Compare With Similar Tests

TestAARS2 Gene Combined oxidative phosphorylation deficiency type 8 NGS Genetic Test
ComparisonAARS2 Gene Combined oxidative phosphorylation deficiency type 8 NGS Genetic Test

Frequently Asked Questions

What is the AARS2 Gene COXPD8 NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the AARS2 gene, which cause Combined Oxidative Phosphorylation Deficiency Type 8 (COXPD8), a rare mitochondrial disorder.
What are the symptoms of COXPD8?
Symptoms include developmental delay, muscle weakness, seizures, vision and hearing problems, respiratory difficulties, and intellectual disability.
How is the test performed?
A blood sample is collected and analyzed using NGS technology to sequence the AARS2 gene for mutations.
What is the cost of the test?
The test costs INR 20000, with free home sample collection available across India.
Is home sample collection available?
Yes, free home sample collection is offered in major cities across India for online bookings.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Who should get this test?
Individuals with symptoms of COXPD8 or a family history of the condition, as recommended by a healthcare provider.
What does a positive result mean?
A positive result indicates the presence of pathogenic AARS2 mutations, confirming a diagnosis of COXPD8, which requires genetic counseling and specialist management.
What does a negative result mean?
A negative result suggests no pathogenic mutations were detected, making COXPD8 unlikely, but clinical correlation is necessary.
Are there any risks to the test?
The test involves minimal risks from blood draw, such as bruising. There may be psychological impacts from results, and variants of uncertain significance can cause anxiety.
Is genetic counseling recommended?
Yes, genetic counseling before and after testing is strongly recommended to understand the implications, risks, and family planning options.
How accurate is the test?
NGS genetic testing is highly accurate for detecting known mutations in the AARS2 gene, but interpretation requires clinical expertise and may identify variants of uncertain significance.
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.

LIMS Integration

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.

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