PNPT1 Gene Combined oxidative phosphorylation deficiency type 13 NGS Genetic Test
Short Name: PNPT1 Gene COXPD13 NGS Test
Also known as: PNPT1 Gene NGS Test, COXPD13 Genetic Test, PNPT1 Mutation Analysis, Combined Oxidative Phosphorylation Deficiency Type 13 DNA Test, Mitochondrial Disorder Genetic Panel - PNPT1
PNPT1 Gene Combined oxidative phosphorylation deficiency type 13 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 from sample receipt at the laboratory. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the PNPT1 Gene COXPD13 NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the PNPT1 gene that cause combined oxidative phosphorylation deficiency type 13. This test aids in confirming a clinical diagnosis of COXPD13, differentiating it from other mitochondrial or metabolic disorders, guiding appropriate clinical management, enabling genetic counseling for affected families, and informing recurrence risk assessment for future pregnancies.
- Test Code
- 1935
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks from sample receipt at the laboratory
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No specific preparation such as fasting is required. Patients should bring a referral from their healthcare provider and relevant clinical history documentation.
Method: Venipuncture
Laboratory Analysis
A blood sample of 3-5 mL is collected via venipuncture into an EDTA vacutainer tube. Alternatively, one drop of blood on an FTA card or extracted DNA may be submitted. The procedure takes approximately 5-10 minutes.
Report Delivery
Apply pressure to the puncture site with a cotton ball for a few minutes. There are no activity restrictions post blood draw. Reports will be available in 3 to 4 weeks.
Timeline: 3 to 4 Weeks from sample receipt at the laboratory
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the PNPT1 Gene COXPD13 NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the PNPT1 gene that cause combined oxidative phosphorylation deficiency type 13. This test aids in confirming a clinical diagnosis of COXPD13, differentiating it from other mitochondrial or metabolic disorders, guiding appropriate clinical management, enabling genetic counseling for affected families, and informing recurrence risk assessment for future pregnancies.
How to Prepare
- No fasting is required before sample collection.
- Bring a valid photo ID and the healthcare provider's referral or prescription.
- Inform the phlebotomist of any blood-thinning medication use.
- EDTA (Lavender Top) vacutainer is the preferred collection tube.
- Avoid heparin-based anticoagulants as they can interfere with downstream molecular analysis.
- If using an FTA card, ensure proper drying before packaging.
- Sample should be stored and transported at ambient room temperature.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"PNPT1 gene mutations causing COXPD13 are rare but clinically significant, particularly when there is a family history of mitochondrial dysfunction. Early genetic diagnosis through NGS allows families to understand recurrence risks and access supportive care. I recommend this test for any patient presenting with unexplained multisystem mitochondrial symptoms and a suspected genetic basis. Genetic counseling before and after testing is strongly advised."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Heparinized blood sample
- Clotted or hemolyzed blood sample
- Insufficient sample volume
- Sample without proper labeling or identification
- Contaminated or degraded DNA sample
Understanding Your Results
Pathogenic Variant(s) Detected
One or more pathogenic or likely pathogenic mutations in the PNPT1 gene were identified. This result supports a molecular diagnosis of COXPD13. Clinical correlation and genetic counseling are recommended.
Action: Consult with a geneticist or genetic counselor for clinical management and family risk assessment.
No Pathogenic Variants Detected
No pathogenic or likely pathogenic variants were identified in the PNPT1 gene. This result reduces the likelihood of COXPD13 but does not exclude other genetic causes of the patient's symptoms.
Action: Discuss with the referring physician whether additional genetic testing is indicated.
Variant of Uncertain Significance (VUS) Identified
A variant of uncertain significance was detected in the PNPT1 gene. The clinical relevance of this variant cannot be determined with current evidence.
Action: Clinical correlation, family segregation studies, and periodic re-evaluation of variant classification are recommended.
Consult your healthcare provider or geneticist if you or your child experience unexplained developmental delay, chronic weakness and fatigue, difficulty breathing, muscle stiffness, heart problems, or abnormal liver function that may be suggestive of a mitochondrial disorder. If you have a family history of combined oxidative phosphorylation deficiency or other mitochondrial diseases, genetic counseling and testing should be discussed with your doctor.
Limitations
- ⚠This test does not detect large genomic rearrangements or copy number variations (CNVs) unless specifically included in the analysis pipeline.
- ⚠Variants of Uncertain Significance (VUS) may be reported and may require further evaluation.
- ⚠This test is specific to the PNPT1 gene and does not screen for other mitochondrial disease-associated genes.
- ⚠A negative result does not completely exclude a genetic cause for the patient's symptoms if mutations lie in regulatory or deep intronic regions not covered by NGS.
Risks & Considerations
- ●Minor bruising or discomfort at the venipuncture site
- ●Rare risk of infection at the puncture site
- ●Emotional impact of genetic test results; genetic counseling is recommended to address psychological concerns
Interfering Factors
- ●Degraded or low-quality DNA extracted from improperly stored samples
- ●Heparin contamination in the blood sample (EDTA is preferred)
- ●Sample mix-up or incorrect patient identification
- ●Presence of somatic mosaicism may limit detection sensitivity
Compare With Similar Tests
| Test | PNPT1 Gene Combined oxidative phosphorylation deficiency type 13 NGS Genetic Test | Whole Mitochondrial Genome Sequencing | Whole Exome Sequencing (WES) | Respiratory Chain Enzyme Assay |
|---|---|---|---|---|
| Comparison | PNPT1 Gene Combined oxidative phosphorylation deficiency type 13 NGS Genetic Test |
Frequently Asked Questions
What is the PNPT1 Gene Combined Oxidative Phosphorylation Deficiency Type 13 NGS Genetic Test?
What is COXPD13 and how does it affect the body?
What are the common symptoms of COXPD13?
How is COXPD13 diagnosed?
What sample type is required for the PNPT1 Gene NGS Test?
How much does the PNPT1 Gene NGS Test cost in India?
How long does it take to receive the test results?
Is home sample collection available for this test?
Do I need to fast before this genetic test?
Who should consider getting this genetic test?
What is the role of the PNPT1 gene in the body?
Is genetic counseling recommended before taking this test?
Related Tests
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.
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.