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COX10 Gene Encephalopathy mitochondrial with proximal renal tubulopathy due to cytochrome c oxidase deficiency NGS Genetic Test

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COX10 Gene Encephalopathy mitochondrial with proximal renal tubulopathy due to cytochrome c oxidase deficiency NGS Genetic Test

Short Name: COX10 Gene NGS Test

Also known as: COX10 Gene Mutation Analysis, COX10 Gene Sequencing, Cytochrome C Oxidase Deficiency Genetic Test, Mitochondrial Encephalopathy NGS Panel, COX10 Next-Generation Sequencing

COX10 Gene Encephalopathy mitochondrial with proximal renal tubulopathy due to cytochrome c oxidase deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood, extracted DNA, or one drop of blood on FTA card samples. Results in Reports are delivered within 3 to 4 weeks after the sample is received by the laboratory. The report will be available online and sent via email/WhatsApp.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 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 primary purpose of this NGS genetic test is to identify pathogenic mutations in the COX10 gene, confirming the clinical diagnosis of mitochondrial encephalopathy with proximal renal tubulopathy due to cytochrome c oxidase deficiency. Early genetic confirmation enables symptom-based management, informed prognostication, and appropriate genetic counselling for the affected individual and family members.

Test Code
4069
Price
₹20,000
Sample Type
Blood, extracted DNA, or one drop of blood on FTA card
Result Time
Reports are delivered within 3 to 4 weeks after the sample is received by the laboratory. The report will be available online and sent via email/WhatsApp.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Once the test is booked, a genetic counselling session will be arranged to review clinical history and draw a pedigree chart of affected family members. No fasting or special preparation is required for this test.

Method: Peripheral venipuncture or FTA card blood spot

Step 2

Laboratory Analysis

A trained phlebotomist will collect a peripheral blood sample in an EDTA tube, or a few drops of blood will be placed on an FTA card. The procedure is quick and minimally invasive.

Step 3

Report Delivery

No specific precautions are required after sample collection. You may resume normal activities immediately. The sample will be transported to the laboratory at ambient temperature for processing.

Timeline: Reports are delivered within 3 to 4 weeks after the sample is received by the laboratory. The report will be available online and sent via email/WhatsApp.

Patient Instructions

1
Before the Test:A genetic counselling session is scheduled to confirm the clinical indication and to understand the inheritance pattern. No fasting is required. The patient or guardian must provide written informed consent for genetic testing.
2
During the Test:A blood sample is drawn by a phlebotomist or an FTA card blood spot is taken. The sample is securely packaged and shipped to the laboratory where DNA extraction and NGS analysis are performed.
3
After the Test:Once the results are ready, a clinical geneticist will review the report, and a follow-up genetic counselling session may be offered to explain the findings and their implications for the patient and family.

About This Test

Who Should Get This Test

The primary purpose of this NGS genetic test is to identify pathogenic mutations in the COX10 gene, confirming the clinical diagnosis of mitochondrial encephalopathy with proximal renal tubulopathy due to cytochrome c oxidase deficiency. Early genetic confirmation enables symptom-based management, informed prognostication, and appropriate genetic counselling for the affected individual and family members.

How to Prepare

  • Please carry a valid government-issued photo ID for verification.
  • Provide the lab with all relevant clinical details and family history.
  • If the sample is blood, use an EDTA vacutainer and mix gently by inverting 8-10 times.
  • If using an FTA card, ensure the blood spots are fully dried before placing in the provided pouch.
  • Samples should be sent to the laboratory within 48 hours of collection.

Doctor's Notes

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

"A gynaecologist may refer families with a history of COX10-related mitochondrial encephalopathy for preconception or prenatal genetic counselling. Carrier screening and understanding the autosomal recessive inheritance pattern are important for reproductive planning and informed family decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, extracted DNA, or one drop of blood on FTA card
Sample Volume2-3 ml blood or 1-3 FTA card spots
ContainerEDTA Vacutainer or FTA Card
Collection MethodPeripheral venipuncture or FTA card blood spot

Sample Stability

EDTA blood: Stable for up to 72 hours at 2-8°C
FTA card blood spots: Stable at room temperature for several weeks in a dry, sealed pouch
Extracted DNA: Stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Improperly labelled or unlabelled samples
  • Insufficient blood volume or insufficient FTA spots
  • Coagulated blood or haemolyzed sample
  • Sample received after prolonged storage or without appropriate cold chain

Understanding Your Results

The results of the COX10 gene NGS genetic test must be interpreted by a qualified clinical geneticist in the context of the patient's clinical presentation, biochemical findings, and family history. Genetic counselling is strongly recommended both before and after the test.
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This confirms the molecular diagnosis of COX10-related mitochondrial encephalopathy with proximal renal tubulopathy. The result is consistent with an autosomal recessive inheritance pattern. Genetic counselling and family member testing are recommended.

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The clinical significance of the detected variant is unclear. Further assessment via family segregation studies, functional studies, or other testing may be required to determine if it is disease-causing.

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A negative result does not rule out the clinical diagnosis. The condition may be caused by variants in other nuclear genes, mitochondrial DNA, or non-coding regions not covered by this test. Further genetic or biochemical evaluation may be warranted.

⚠️ When to Consult a Doctor:

You should consult a healthcare professional, preferably a neurologist or clinical geneticist, if you or your child experience unexplained developmental delay, seizures, hypotonia, muscle weakness, or renal tubular dysfunction. These symptoms may indicate a mitochondrial disorder that requires systematic evaluation and genetic testing.

Limitations

  • ⚠This test detects mutations in the COX10 gene coding region and exon-intron boundaries only.
  • ⚠Large genomic rearrangements, deep intronic variants, and variants in regulatory regions may not be detected.
  • ⚠A negative result does not exclude a mitochondrial disorder caused by mutations in other genes.
  • ⚠Variants of uncertain clinical significance may be reported; additional family studies may be required for interpretation.

Risks & Considerations

  • ●Minor discomfort or bruising at the blood collection site
  • ●Dizziness or light-headedness during blood draw
  • ●Rarely, local infection or prolonged bleeding
  • ●Psychological impact of genetic results; counselling is recommended

Interfering Factors

  • ●No interference from food, medications, or timing of sample collection is known for this genetic test.
  • ●Poor quality or degraded DNA may affect sequencing accuracy and may require redraw.

Compare With Similar Tests

TestCOX10 Gene Encephalopathy mitochondrial with proximal renal tubulopathy due to cytochrome c oxidase deficiency NGS Genetic TestCOX10 Gene NGS TestWhole Mitochondrial Genome SequencingWhole Exome Sequencing
ComparisonCOX10 Gene Encephalopathy mitochondrial with proximal renal tubulopathy due to cytochrome c oxidase deficiency NGS Genetic Test

Frequently Asked Questions

What is the COX10 gene?
The COX10 gene provides instructions for making an enzyme called heme A:farnesyltransferase, which is essential for the assembly of cytochrome c oxidase (Complex IV) of the mitochondrial respiratory chain. Mutations in this gene disrupt energy production in high-energy-demand tissues and cause a rare mitochondrial disorder.
What is cytochrome c oxidase deficiency?
Cytochrome c oxidase deficiency is a mitochondrial respiratory chain disorder characterized by reduced activity of Complex IV. This impairs ATP production, leading to symptoms affecting the brain, muscles, and kidneys. It can be caused by mutations in several nuclear genes, including COX10.
What are the symptoms of COX10-related mitochondrial encephalopathy with proximal renal tubulopathy?
Symptoms can vary widely and may include developmental delay, low muscle tone (hypotonia), muscle weakness, seizures, and kidney problems related to proximal tubular dysfunction. Some patients have a severe early-onset course, while others may have a milder presentation.
How is this condition diagnosed?
The diagnosis is based on a combination of clinical features, laboratory tests showing cytochrome c oxidase deficiency, and genetic testing. The NGS genetic test identifies mutations in the COX10 gene, confirming the clinical diagnosis.
What is an NGS genetic test?
Next-Generation Sequencing (NGS) is a high-throughput DNA sequencing technology that can rapidly and accurately sequence multiple genes or genomic regions. In this test, NGS is used to analyze the COX10 gene for disease-causing mutations.
Why is genetic counselling required before this test?
Genetic counselling is required to draw a pedigree chart of affected family members, explain the inheritance pattern and testing risks, obtain informed consent, and ensure the appropriate test is selected. Since COX10-related disorders are autosomal recessive, this is important for accurate interpretation and family planning.
What sample is required for the COX10 NGS test?
The test can be performed on 2-3 ml of blood in an EDTA vacutainer, 1-3 drops of blood spotted on an FTA card, or on extracted DNA. The sample can be collected conveniently at home through the free home sample collection service.
Is fasting required for this test?
No, fasting is not required for the COX10 gene NGS genetic test. You can eat and drink normally before sample collection.
How long does the test report take?
Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory. You will receive the result via the online portal, email, and WhatsApp.
What does a negative result mean?
A negative result indicates that no pathogenic or likely pathogenic variants were identified in the COX10 gene. It does not completely rule out the condition, as the disorder may be caused by mutations in other genes or in regions not covered by this test.
What does a positive result mean?
A positive result confirms the presence of a pathogenic or likely pathogenic variant in the COX10 gene, which supports the clinical diagnosis. Genetic counselling is strongly recommended to discuss the implications for the patient and family members.
Can this test be used for family planning?
Yes, once a pathogenic variant is identified in an affected individual, at-risk relatives can be offered carrier testing and prenatal diagnosis. Preconception consultation with a genetic counsellor and an obstetrician can help guide reproductive choices.
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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