RMND1 Gene Combined oxidative phosphorylation deficiency type 11 NGS Genetic Test
Short Name: RMND1 Gene COXPHD Type 11 NGS Test
Also known as: RMND1 Gene COXPHD11 NGS Test, RMND1 Mitochondrial Disorder Genetic Test, Combined OXPHOS Deficiency Type 11 Gene Test, RMND1 Mutation Analysis NGS Test, RMND1 Related Mitochondrial Disease Genetic Test
RMND1 Gene Combined oxidative phosphorylation deficiency type 11 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 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 RMND1 Gene Combined Oxidative Phosphorylation Deficiency Type 11 NGS Genetic Test is to identify pathogenic mutations in the RMND1 gene responsible for combined oxidative phosphorylation deficiency type 11. This test enables confirmatory diagnosis of the condition in symptomatic individuals, supports carrier identification in family members, facilitates genetic counselling for affected families, and informs reproductive planning including prenatal and preimplantation genetic testing options.
- Test Code
- 1930
- CPT Code
- 81479
- ICD Code
- E88.89
- 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)
Sample Collection
A Genetic Counselling session is required before sample collection to draw a complete pedigree chart of family members affected with Combined Oxidative Phosphorylation Deficiency Type 11. Clinical history of the patient must be documented, including onset of symptoms, family history of metabolic or mitochondrial disorders, prior investigations, and current medications.
Method: Venipuncture / FTA Card Blood Spot
Laboratory Analysis
A trained phlebotomist will collect 3-5 mL of venous blood in an EDTA (lavender top) tube under sterile conditions. Alternatively, one drop of blood may be spotted on an FTA card. Proper labeling with patient details and sample identification is ensured. Home collection is available at no additional cost.
Report Delivery
The collected sample is transported to the laboratory under controlled ambient temperature conditions. DNA is extracted and prepared for Next Generation Sequencing. The genetic analysis report is generated within 3 to 4 weeks. A post-test genetic counselling session may be scheduled to discuss findings and clinical implications.
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 RMND1 Gene Combined Oxidative Phosphorylation Deficiency Type 11 NGS Genetic Test is to identify pathogenic mutations in the RMND1 gene responsible for combined oxidative phosphorylation deficiency type 11. This test enables confirmatory diagnosis of the condition in symptomatic individuals, supports carrier identification in family members, facilitates genetic counselling for affected families, and informs reproductive planning including prenatal and preimplantation genetic testing options.
How to Prepare
- No fasting is required prior to sample collection.
- Ensure the patient's clinical history and family pedigree are available at the time of collection.
- Blood should be collected in an EDTA (lavender top) tube.
- One drop of blood on an FTA card is also acceptable as an alternative sample type.
- Properly label the sample with patient name, date of birth, and unique identification number.
- Transport the sample at ambient room temperature to the laboratory.
- Avoid hemolyzed samples; ensure gentle venipuncture technique.
- If the patient has had a recent blood transfusion, inform the laboratory at the time of sample submission.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"As an obstetrician and gynecologist, I frequently encounter couples with a family history of mitochondrial disorders such as Combined Oxidative Phosphorylation Deficiency Type 11. Early genetic testing through NGS technology allows for accurate identification of RMND1 gene mutations, enabling informed family planning, prenatal counselling, and preimplantation genetic testing options. I recommend this test to any family with a history of unexplained infantile metabolic crises, developmental regression, or multisystem involvement suggestive of mitochondrial disease. Timely diagnosis empowers families to make proactive healthcare decisions and access supportive interventions for affected children."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Heavily hemolyzed or clotted blood sample
- Sample collected in incorrect tube type (non-EDTA anticoagulant)
- Insufficient sample volume for DNA extraction
- Improperly labeled or unlabeled sample
- Sample received beyond stability window without prior notification
Understanding Your Results
One or more pathogenic variants in the RMND1 gene have been identified. In the presence of two pathogenic variants (homozygous or compound heterozygous), a diagnosis of Combined Oxidative Phosphorylation Deficiency Type 11 is confirmed. Clinical correlation and genetic counselling are recommended.
Result type: Pathogenic Variant Detected
Likely pathogenic variants in the RMND1 gene have been found. These variants have strong evidence of pathogenicity but may require additional functional studies or family segregation analysis for definitive classification. Clinical correlation is advised.
Result type: Likely Pathogenic Variant Detected
A variant of uncertain significance has been identified in the RMND1 gene. Current evidence is insufficient to classify this variant as pathogenic or benign. Family studies and clinical follow-up are recommended. Results should be re-evaluated periodically as new data becomes available.
Result type: Variant of Uncertain Significance (VUS)
No pathogenic or likely pathogenic variants were identified in the RMND1 gene. This result does not completely exclude RMND1-related disease if caused by variants in non-coding regions or large rearrangements not covered by this test. Clinical correlation and further evaluation with complementary testing may be warranted.
Result type: No Pathogenic Variant Detected
A single heterozygous pathogenic variant in the RMND1 gene has been identified. The individual is a carrier of Combined Oxidative Phosphorylation Deficiency Type 11 and is typically unaffected. Genetic counselling is recommended for reproductive planning.
Result type: Carrier Detected
Consult a clinical geneticist or metabolic specialist if your test results indicate pathogenic or likely pathogenic variants in the RMND1 gene, if a variant of uncertain significance is detected, or if clinical symptoms persist despite a negative result. Genetic counselling is strongly recommended for all result types to understand implications for the patient and family members, reproductive planning, and available supportive treatment options.
Limitations
- ⚠This test does not detect large genomic rearrangements or copy number variations in the RMND1 gene unless specifically included in the analysis pipeline.
- ⚠Deep intronic variants and regulatory region mutations outside the targeted regions may not be identified.
- ⚠A negative result does not completely rule out RMND1-related disease if caused by variants in non-coding regions.
- ⚠Variants of uncertain significance (VUS) may be reported and require clinical correlation and family studies.
- ⚠This test does not screen for mutations in other mitochondrial or nuclear genes associated with oxidative phosphorylation defects.
Risks & Considerations
- ●Minor bruising or discomfort at the venipuncture site
- ●Rare risk of infection at the blood draw site
- ●Emotional impact of genetic test results on the patient and family
- ●Possibility of receiving a variant of uncertain significance requiring further investigation
Interfering Factors
- ●Heavily hemolyzed blood samples may affect DNA extraction quality
- ●Recent blood transfusion within the past 4 weeks may interfere with results
- ●Concurrent use of anticoagulants other than EDTA may impact sample integrity
- ●Insufficient sample volume may lead to inadequate DNA yield for NGS analysis
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Frequently Asked Questions
What is RMND1 Gene Combined Oxidative Phosphorylation Deficiency Type 11?
What causes Combined Oxidative Phosphorylation Deficiency Type 11?
What are the symptoms of RMND1 Gene COXPHD Type 11?
How is RMND1 Gene COXPHD Type 11 diagnosed?
What sample is required for the RMND1 Gene NGS Genetic Test?
How long does it take to get the results of the RMND1 Gene NGS Test?
What is the cost of the RMND1 Gene Combined Oxidative Phosphorylation Deficiency Type 11 NGS Genetic Test?
Is home sample collection available for this test?
Is there a cure for RMND1 Gene Combined Oxidative Phosphorylation Deficiency Type 11?
Is Combined Oxidative Phosphorylation Deficiency Type 11 an inherited condition?
Who should consider getting the RMND1 Gene NGS Genetic Test?
What should I do if my test results are positive for RMND1 gene mutations?
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