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MRPL3 Gene Combined oxidative phosphorylation deficiency type 9 NGS Genetic Test

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MRPL3 Gene Combined oxidative phosphorylation deficiency type 9 NGS Genetic Test

Short Name: MRPL3 Gene COXPD9 NGS Test

Also known as: COXPD9 Genetic Test, MRPL3 Mutation Analysis, Mitochondrial Ribosomal Protein L3 Test

MRPL3 Gene Combined oxidative phosphorylation deficiency type 9 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 Test🏠 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 the MRPL3 Gene COXPD9 NGS Genetic Test is to detect pathogenic mutations in the MRPL3 gene responsible for Combined Oxidative Phosphorylation Deficiency Type 9. This test aids in confirming diagnosis, guiding treatment strategies, and providing genetic counseling for affected individuals and their families.

Test Code
1949
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 and undergo genetic counseling to draw a pedigree chart of affected family members.

Method: Venipuncture or Fingerstick for FTA card

Step 2

Laboratory Analysis

Standard blood draw or fingerstick procedure for sample collection.

Step 3

Report Delivery

Apply pressure to puncture site and follow lab instructions for sample handling.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling.
2
During the Test:Sample collection via blood draw or fingerstick.
3
After the Test:Sample sent to laboratory for NGS analysis.

About This Test

Who Should Get This Test

The purpose of the MRPL3 Gene COXPD9 NGS Genetic Test is to detect pathogenic mutations in the MRPL3 gene responsible for Combined Oxidative Phosphorylation Deficiency Type 9. This test aids in confirming diagnosis, guiding treatment strategies, and providing genetic counseling for affected individuals and their families.

How to Prepare

  • Provide detailed clinical history
  • Attend genetic counseling session if recommended
  • Ensure sample is collected in appropriate container

Doctor's Notes

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

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood samples stable at room temperature for up to 7 days
Extracted DNA stable at 4°C for longer periods
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient volume
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of mutations in the MRPL3 gene associated with COXPD9.
Normal: No pathogenic variants detected in the MRPL3 gene
Abnormal: Pathogenic variant identified, confirming COXPD9 diagnosis
Variant of Uncertain Significance (VUS): Further testing or clinical correlation needed
⚠️ When to Consult a Doctor:

If symptoms such as developmental delay, muscle weakness, or seizures are present, consult a doctor for evaluation and genetic testing.

Limitations

  • ⚠May not detect all types of genetic mutations
  • ⚠Requires clinical correlation
  • ⚠Results should be interpreted by a qualified geneticist

Risks & Considerations

  • ●Slight pain or bruising at puncture site
  • ●Minimal risk of infection
  • ●No significant long-term risks

Interfering Factors

  • ●Degraded DNA sample
  • ●Insufficient sample volume
  • ●Contamination

Frequently Asked Questions

What is the MRPL3 Gene Combined Oxidative Phosphorylation Deficiency Type 9 NGS Genetic Test?
This test uses Next-Generation Sequencing to identify mutations in the MRPL3 gene, which causes COXPD9, a rare disorder affecting cellular energy production.
What are the symptoms of COXPD9?
Common symptoms include developmental delay, muscle weakness, difficulty feeding, low muscle tone, seizures, intellectual disability, and visual impairment.
How is COXPD9 diagnosed?
Diagnosis involves clinical evaluation, medical history review, and genetic testing such as the MRPL3 NGS test to detect gene mutations.
What is the cost of the test at DNA Labs India?
The test costs INR 20000, which includes sample collection, transportation, and laboratory analysis.
Why choose DNA Labs India for genetic testing?
DNA Labs India offers accurate, reliable results with state-of-the-art technology, experienced geneticists, and affordable pricing with home collection across India.
How is the sample collected for this test?
Sample collection involves a blood draw or fingerstick for a small blood sample on an FTA card, with home collection available.
What is the turnaround time for results?
Results are typically delivered in 3 to 4 weeks via online portal, email, or WhatsApp.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across many cities in India.
What should I do before getting the test?
Provide clinical history and undergo genetic counseling to draw a pedigree chart of affected family members.
How are the results interpreted?
Results indicate normal sequence or pathogenic variants in the MRPL3 gene. Abnormal results confirm COXPD9, requiring genetic counseling.
Is this test covered by insurance?
Coverage varies by insurance provider and scheme. Check with your insurer for details.
What other tests are related to COXPD9?
Related tests include other mitochondrial gene tests such as NDUFS1 or MT-ND5 sequencing, and respiratory chain enzyme assays.
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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