MTO1 Gene Combined oxidative phosphorylation deficiency type 10 NGS Genetic Test
Short Name: MTO1 Gene COXPD10 NGS Test
Also known as: COXPD10 Genetic Test, MTO1 Gene Sequencing Test, MTO1 Mutation Analysis, Mitochondrial Translation Optimization 1 Gene Test, Combined OXPHOS Deficiency Type 10 NGS Test
MTO1 Gene Combined oxidative phosphorylation deficiency type 10 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Sequencing Confirmation (if required), Bioinformatic Variant Analysis on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from the date of 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 MTO1 Gene COXPD10 NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the MTO1 gene that are responsible for Combined Oxidative Phosphorylation Deficiency Type 10. This test is used to confirm a clinical diagnosis of COXPD10, differentiate it from other mitochondrial and metabolic disorders, enable accurate genetic counseling for affected families, guide clinical management decisions, and facilitate carrier testing and prenatal diagnosis for at-risk family members.
- Test Code
- 1941
- CPT Code
- 81479
- ICD Code
- E88.49
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Sequencing Confirmation (if required), Bioinformatic Variant Analysis
Sample Collection
A pre-test genetic counseling session is strongly recommended to evaluate the clinical history, draw a detailed pedigree chart of family members affected with COXPD10 or related metabolic disorders, and discuss the implications of testing. Clinical history of the patient, including family history, consanguinity, previous test results, and current symptoms, should be documented prior to sample collection.
Method: Venipuncture or finger-prick (FTA card)
Laboratory Analysis
A trained phlebotomist will collect 3-5 mL of peripheral venous blood in an EDTA (lavender-top) tube under aseptic conditions. Alternatively, a finger-prick blood sample can be collected on an FTA card. For DNA samples, the extracted DNA should be provided in a sterile tube with proper labeling. Home sample collection is available at no additional cost across India.
Report Delivery
After blood collection, gentle pressure should be applied to the venipuncture site with a cotton ball or gauze for 3-5 minutes to prevent bruising. The sample is transported to the DNA Labs India laboratory under controlled ambient temperature conditions. The DNA is extracted, and the MTO1 gene is sequenced using NGS technology. Results are typically available within 3 to 4 weeks and are delivered via the online portal, email, or WhatsApp.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the MTO1 Gene COXPD10 NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the MTO1 gene that are responsible for Combined Oxidative Phosphorylation Deficiency Type 10. This test is used to confirm a clinical diagnosis of COXPD10, differentiate it from other mitochondrial and metabolic disorders, enable accurate genetic counseling for affected families, guide clinical management decisions, and facilitate carrier testing and prenatal diagnosis for at-risk family members.
How to Prepare
- Ensure the patient's clinical history and family pedigree are documented before sample collection
- Collect 3-5 mL peripheral venous blood in an EDTA (lavender-top) vacutainer tube
- Alternatively, collect one drop of blood on an FTA card following manufacturer instructions
- For extracted DNA, provide a minimum of 1 microgram of high-quality DNA at a concentration of 50 ng/uL or higher
- Label the sample correctly with the patient's full name, date of birth, sample date, and unique identifier
- Transport the sample at ambient room temperature (15-30 degrees Celsius) to the laboratory
- Avoid freezing whole blood samples
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"MTO1 gene-related COXPD10 is a severe autosomal recessive mitochondrial disorder that may be identified prenatally or in early infancy. Couples with a family history of mitochondrial disease or consanguineous unions should consider carrier screening and genetic counseling. Early identification through NGS testing enables informed reproductive planning and timely clinical intervention for affected newborns."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed, clotted, or improperly anticoagulated blood samples
- Samples with insufficient volume or inadequate DNA quantity
- Improperly labeled or unlabeled samples
- Samples received without accompanying clinical information or test requisition form
- Samples that exceed stability time limits
- Contaminated samples or samples with visible microbial growth
Understanding Your Results
No Pathogenic Variant Detected
No pathogenic or likely pathogenic variants were identified in the MTO1 gene. This result reduces the likelihood of COXPD10 but does not completely exclude it. Clinical correlation and further testing may be warranted.
Action: Discuss with the referring physician. Consider whole exome sequencing or mitochondrial genome sequencing if clinical suspicion remains high.
Pathogenic Variant Detected – Homozygous
Two copies of a pathogenic variant were identified in the MTO1 gene, confirming a diagnosis of COXPD10 in the context of compatible clinical features.
Action: Refer for genetic counseling. Discuss inheritance pattern, recurrence risk, and management options. Consider carrier testing for family members.
Pathogenic Variant Detected – Compound Heterozygous
Two different pathogenic or likely pathogenic variants were identified in the MTO1 gene (one on each allele), consistent with a diagnosis of COXPD10.
Action: Refer for genetic counseling. Parental testing is recommended to confirm that variants are in trans configuration. Discuss management and family planning.
Variant of Uncertain Significance (VUS) Detected
A variant in the MTO1 gene was identified whose clinical significance is currently unknown. This variant cannot be used to confirm or exclude a diagnosis of COXPD10.
Action: Refer for genetic counseling. Family segregation studies, functional analysis, and periodic re-evaluation of the variant may be helpful.
Carrier Status Identified
A single pathogenic variant was detected in the MTO1 gene, indicating the individual is a carrier of COXPD10. Carriers are typically unaffected but can pass the variant to offspring.
Action: Genetic counseling recommended. Offer carrier testing to the partner for recurrence risk assessment.
Consult a physician or genetic specialist if you or your child are experiencing unexplained developmental delay, muscle weakness, recurrent seizures, lactic acidosis, respiratory difficulties, or regression of acquired developmental milestones. A family history of mitochondrial disorders or consanguinity should also prompt consideration of genetic testing. Early diagnosis enables appropriate clinical management and informed family planning.
Limitations
- ⚠This test targets only the MTO1 gene and does not screen for mutations in other genes associated with oxidative phosphorylation defects or mitochondrial disorders
- ⚠Large genomic rearrangements, copy number variations, or deep intronic mutations may not be detected by standard NGS sequencing
- ⚠Variants of uncertain significance (VUS) may be identified and may require further family studies or functional analysis
- ⚠Somatic mosaicism at low levels may not be reliably detected
- ⚠This test does not detect mitochondrial DNA (mtDNA) mutations
- ⚠A negative result does not completely exclude a genetic basis for the patient's condition
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Slight risk of infection at the puncture site (rare)
- ●Possibility of identifying variants of uncertain significance, which may cause anxiety
- ●Psychological impact of a positive diagnosis on the patient and family members
Interfering Factors
- ●Heavily hemolyzed or degraded blood samples may affect DNA quality
- ●Recent blood transfusion (within 3 months) may lead to mixed DNA population and inaccurate results
- ●Contamination of the sample during collection or transport
- ●Insufficient sample volume resulting in low DNA yield
Compare With Similar Tests
| Test | MTO1 Gene Combined oxidative phosphorylation deficiency type 10 NGS Genetic Test | Whole Exome Sequencing (WES) | Mitochondrial DNA Sequencing | Metabolic Panel (Lactate, Pyruvate, Amino Acids) |
|---|---|---|---|---|
| Comparison | MTO1 Gene Combined oxidative phosphorylation deficiency type 10 NGS Genetic Test | WES analyzes all protein-coding genes in the genome, whereas the MTO1 test targets only the MTO1 gene. WES is broader but more expensive and may identify incidental findings. | Mitochondrial DNA sequencing detects mutations in the mitochondrial genome, while the MTO1 test targets a nuclear gene. COXPD10 is caused by nuclear gene mutations, making the MTO1 test more specific. | Metabolic panels detect biochemical abnormalities associated with mitochondrial dysfunction but cannot identify the specific genetic cause. The MTO1 test provides a definitive molecular diagnosis. |
Frequently Asked Questions
What is the MTO1 Gene COXPD10 NGS Genetic Test?
What is Combined Oxidative Phosphorylation Deficiency Type 10 (COXPD10)?
What are the symptoms of COXPD10?
How is COXPD10 diagnosed?
What sample is required for the MTO1 Gene COXPD10 test?
How long does it take to get the results of the MTO1 Gene COXPD10 test?
What is the cost of the MTO1 Gene COXPD10 NGS Genetic Test at DNA Labs India?
Is genetic counseling required before the MTO1 Gene test?
What does a positive (pathogenic variant detected) result mean?
Can the MTO1 Gene COXPD10 test be used for carrier testing or prenatal diagnosis?
Is home sample collection available for the MTO1 Gene COXPD10 test?
Who should consider getting tested for MTO1 gene mutations?
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.