PET100 Gene Mitochondrial complex IV deficiency NGS Genetic Test
Short Name: PET100 Gene NGS Test
Also known as: Cytochrome c Oxidase Deficiency PET100 Gene Test, COX Deficiency NGS Genetic Test, Mitochondrial Complex IV PET100 Gene Sequencing, PET100 Mutation Analysis Test
PET100 Gene Mitochondrial complex IV deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation (if required) on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in 3 to 4 Weeks from sample receipt at 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 PET100 Gene Mitochondrial Complex IV Deficiency NGS Genetic Test is to identify pathogenic or likely pathogenic genetic variants in the PET100 gene responsible for mitochondrial complex IV (cytochrome c oxidase) deficiency. This test serves as a confirmatory diagnostic tool for patients with suspected mitochondrial disease, guides clinical management decisions, facilitates genetic counseling for affected families, enables carrier detection, supports prenatal or preimplantation genetic diagnosis planning, and contributes to understanding the genotype-phenotype correlation in mitochondrial disorders.
- Test Code
- 1722
- CPT Code
- 81479
- ICD Code
- E88.40
- 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 laboratory
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Confirmation (if required)
Sample Collection
No special preparation such as fasting is required. A pre-test genetic counseling session is recommended to review the patient's clinical history and draw a pedigree chart of family members affected with mitochondrial complex IV deficiency. Inform the laboratory about any recent blood transfusions, anticoagulant therapy, or ongoing medications.
Method: Venipuncture / FTA Card Finger Prick
Laboratory Analysis
A peripheral venous blood sample (3-5 mL) is collected in an EDTA (lavender-top) vacutainer under aseptic conditions. Alternatively, one drop of blood can be collected on an FTA card. The collection procedure is minimally invasive and typically completed within a few minutes. Home sample collection is available across India for online bookings.
Report Delivery
The blood sample is labeled and transported to DNA Labs India's laboratory under controlled ambient room temperature conditions. DNA extraction is performed followed by next-generation sequencing. Results are typically available within 3 to 4 weeks. Genetic counseling and clinical interpretation of results are provided along with the report.
Timeline: 3 to 4 Weeks from sample receipt at laboratory
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the PET100 Gene Mitochondrial Complex IV Deficiency NGS Genetic Test is to identify pathogenic or likely pathogenic genetic variants in the PET100 gene responsible for mitochondrial complex IV (cytochrome c oxidase) deficiency. This test serves as a confirmatory diagnostic tool for patients with suspected mitochondrial disease, guides clinical management decisions, facilitates genetic counseling for affected families, enables carrier detection, supports prenatal or preimplantation genetic diagnosis planning, and contributes to understanding the genotype-phenotype correlation in mitochondrial disorders.
How to Prepare
- Collect 3-5 mL of peripheral venous blood in an EDTA (lavender-top) vacutainer
- Alternatively, apply one drop of blood on an FTA collection card and allow it to dry completely
- Label the sample container clearly with patient name, date of birth, and unique identification number
- Ensure the sample is collected under aseptic technique to prevent contamination
- Do not freeze the blood sample; store and transport at ambient room temperature (15-30°C)
- Transport the sample to the laboratory within 48 hours of collection for optimal DNA quality
- Provide the patient's clinical history and family pedigree information with the sample
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Mitochondrial complex IV deficiency caused by PET100 gene mutations can present with a broad spectrum of neurological manifestations including progressive encephalopathy, seizures, hypotonia, and developmental regression. Early genetic diagnosis through NGS-based testing is essential for accurate clinical management, prognostic counseling, and informed family planning. I recommend this test for patients with unexplained lactic acidosis, multisystem mitochondrial disease features, or abnormal respiratory chain enzyme activity on muscle biopsy."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume (less than 2 mL of blood)
- Improperly labeled or unlabeled sample container
- Sample collected in anticoagulant other than EDTA (e.g., heparin, citrate) without prior approval
- Sample received without clinical history or requisition form
- Severely degraded DNA upon extraction with A260/A280 ratio outside 1.7-2.0 range
Understanding Your Results
Pathogenic or Likely Pathogenic variant(s) detected
One or more disease-causing variants were identified in the PET100 gene consistent with a diagnosis of mitochondrial complex IV deficiency. Genetic counseling is strongly recommended for the patient and family members. Carrier testing and prenatal planning should be discussed.
Action: Consult with a clinical geneticist or neurologist for clinical correlation, management plan, and family screening.
Variant of Uncertain Significance (VUS) detected
A genetic variant was identified in the PET100 gene whose clinical significance is currently unknown based on available evidence. This variant may or may not be disease-causing.
Action: Follow-up with periodic reassessment, family segregation analysis, functional studies if available, and correlation with clinical and biochemical findings.
No Pathogenic or Likely Pathogenic variant detected
No disease-causing variants were identified in the PET100 gene. This result does not completely exclude mitochondrial complex IV deficiency as mutations in other genes may be responsible.
Action: Consider further genetic evaluation including mitochondrial genome sequencing, whole exome sequencing, or a broader mitochondrial disease gene panel. Clinical correlation and follow-up are recommended.
Carrier status identified
A single pathogenic or likely pathogenic variant was detected in the PET100 gene in a heterozygous state. For autosomal recessive PET100-related conditions, the individual is a carrier and typically unaffected but may pass the variant to offspring.
Action: Genetic counseling recommended. Partner testing should be considered for reproductive planning.
Consult a clinical geneticist, neurologist, or metabolic disease specialist if the test result identifies a pathogenic or likely pathogenic variant in the PET100 gene, if the patient presents with symptoms of mitochondrial complex IV deficiency (progressive muscle weakness, seizures, developmental delay, lactic acidosis, multisystem involvement), or if a variant of uncertain significance is detected and further clinical correlation is needed. Early consultation is recommended for families with a known history of mitochondrial disorders to discuss management options, family screening, and reproductive planning.
Limitations
- ⚠This test analyzes only the PET100 gene and does not screen for mutations in other nuclear or mitochondrial genes associated with mitochondrial complex IV deficiency
- ⚠Large genomic rearrangements, deep intronic variants, or repeat expansions may not be fully detected by this NGS-based test
- ⚠The clinical significance of some detected variants may remain uncertain (VUS) and may require further investigation or segregation analysis
- ⚠Mosaicism at low levels may not be reliably detected depending on sequencing depth
- ⚠Negative results do not completely exclude mitochondrial complex IV deficiency as mutations in other genes may be causative
Risks & Considerations
- ●Minor bruising or discomfort at the venipuncture site (common with any blood draw, resolves within 1-2 days)
- ●Emotional or psychological impact of genetic results, particularly if pathogenic variants are identified
- ●Risk of incidental findings of uncertain clinical significance (VUS) that may cause anxiety
Interfering Factors
- ●Hemolyzed blood samples may affect DNA extraction quality and downstream sequencing
- ●Recent blood transfusion (within 120 days) may lead to mixed DNA profiles and affect variant detection
- ●Concurrent use of anticoagulants other than EDTA may impact sample integrity
- ●Highly degraded DNA due to improper storage or prolonged transit time may compromise sequencing results
Compare With Similar Tests
| Test | PET100 Gene Mitochondrial complex IV deficiency NGS Genetic Test | Whole Mitochondrial Genome Sequencing | Mitochondrial Disease NGS Gene Panel | Respiratory Chain Enzyme Complex Activity Assay | Leigh Syndrome NGS Panel |
|---|---|---|---|---|---|
| Comparison | PET100 Gene Mitochondrial complex IV deficiency NGS Genetic Test |
Frequently Asked Questions
What is the PET100 Gene Mitochondrial Complex IV Deficiency NGS Genetic Test?
What sample is required for the PET100 Gene test?
How long does it take to get the results of the PET100 Gene NGS Genetic Test?
What is the cost of the PET100 Gene Mitochondrial Complex IV Deficiency NGS Genetic Test?
What is mitochondrial complex IV deficiency?
Is genetic counseling included with the PET100 Gene test?
Who should consider getting the PET100 Gene test?
What does a positive (pathogenic variant detected) result mean?
Does this test detect all possible mutations in the PET100 gene?
Is the PET100 Gene NGS Genetic Test covered by insurance?
Does DNA Labs India provide raw data files with the test report?
How accurate is the PET100 Gene NGS Genetic Test?
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