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TMEM70 Gene Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 NGS Genetic Test

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TMEM70 Gene Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 NGS Genetic Test

Short Name: TMEM70 Gene NGS Test

Also known as: TMEM70-related mitochondrial complex V deficiency, ATP synthase deficiency nuclear type 2, Mitochondrial complex V deficiency NGS test

TMEM70 Gene Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 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 Reports are delivered within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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

To detect pathogenic variants in the TMEM70 gene associated with nuclear type 2 mitochondrial complex V (ATP synthase) deficiency, confirm the clinical diagnosis, and provide information for inheritance, genetic counselling, and medical management.

Test Code
4325
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are delivered within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation and no fasting are required. A pre-test genetic counselling session is recommended to review clinical history and draw a pedigree chart of family members.

Method: Peripheral blood draw / FTA card blood spot / submitted extracted DNA

Step 2

Laboratory Analysis

Blood or FTA card sample collection takes approximately 5 minutes. Ensure that the patient's details and sample label are correctly written.

Step 3

Report Delivery

There are no restrictions after sample collection. For FTA cards, allow the blood spot to dry completely before packaging.

Timeline: Reports are delivered within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:No fasting required. The referring doctor or genetic counsellor will explain the benefits, limitations, and possible implications of genetic testing. Informed consent is obtained before sample collection.
2
During the Test:Only a blood sample or FTA card spot is required for this NGS genetic test. The sample is then sent to the laboratory for DNA extraction, library preparation, sequencing, and bioinformatics analysis.
3
After the Test:The laboratory will process the sample and provide a clinical report in 3 to 4 weeks. The report should be discussed with the ordering physician or a genetic counsellor.

About This Test

Who Should Get This Test

To detect pathogenic variants in the TMEM70 gene associated with nuclear type 2 mitochondrial complex V (ATP synthase) deficiency, confirm the clinical diagnosis, and provide information for inheritance, genetic counselling, and medical management.

How to Prepare

  • Blood can be collected in an EDTA vacutainer or applied as one drop on an FTA card.
  • Extracted DNA samples must be accompanied by the relevant request form.
  • No fasting is needed for this genetic test.
  • Home sample collection is available for online bookings across India.

Doctor's Notes

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

"This test should be considered when there is unexplained hypotonia, developmental delay, lactic acidosis, cardiomyopathy, or family history suggestive of mitochondrial complex V deficiency."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 mL blood or 1 FTA blood spot or as required for extracted DNA
ContainerEDTA vacutainer / sterile DNA vial / FTA card
Collection MethodPeripheral blood draw / FTA card blood spot / submitted extracted DNA

Sample Stability

Blood: transport at room temperature and reach the laboratory within 24 hours
FTA card: store in a clean, dry container after the spot has air-dried
Extracted DNA: store at -20°C or as recommended by the laboratory
Sample Rejection Criteria:
  • Clotted or grossly haemolysed blood
  • Insufficient sample quantity
  • Incorrectly labelled sample
  • FTA card not dried or contaminated
  • Sample tube without accompanying clinical history or request form

Understanding Your Results

The result must be interpreted in the context of the patient's clinical presentation, biochemical findings, family history, and pre-test genetic counselling. The clinical report will include variant classification and an interpretative summary.
📊

A pathogenic or likely pathogenic variant in TMEM70 supports the diagnosis of mitochondrial complex V deficiency, nuclear type 2. Clinical correlation and genetic counselling are advised.

Result type: Positive - Pathogenic or Likely Pathogenic variant

📊

If one variant is found, the result should be interpreted according to the inheritance pattern and clinical context. A genetic counsellor should be consulted for family risk assessment.

Result type: Carrier or Heterozygous variant

📊

No pathogenic variants were detected in the TMEM70 gene. This does not exclude other mitochondrial or nuclear gene causes. Further testing may be considered.

Result type: Negative

📊

A variant of uncertain significance was identified. Additional family testing, segregation analysis, or functional studies may be needed to determine its clinical significance.

Result type: Variant of Uncertain Significance (VUS)

⚠️ When to Consult a Doctor:

Consult a clinical geneticist, neurologist, or metabolic physician if the patient has unexplained hypotonia, developmental delay, muscle weakness, cardiomyopathy, respiratory distress, or lactic acidosis. If a family member has a confirmed TMEM70 pathogenic variant, genetic testing should be discussed with a specialist.

Limitations

  • ⚠This targeted NGS test detects variants in the TMEM70 gene only and may not detect large deletions, duplications, deep intronic variants, or mitochondrial genome variants.
  • ⚠A negative result does not exclude mitochondrial disease caused by other nuclear or mitochondrial genes.
  • ⚠Variants of uncertain significance may require additional family segregation analysis or functional studies.
  • ⚠Results should be interpreted along with clinical findings and biochemical markers.

Risks & Considerations

  • ●Minimal risk of pain, bruising, or bleeding at the venipuncture site
  • ●No radiation exposure or significant medical risk from blood sample collection

Interfering Factors

  • ●Poor DNA quality or quantity
  • ●Sample contamination
  • ●Degraded nucleic acid due to improper transport or storage
  • ●Incorrect sample labelling

Compare With Similar Tests

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ComparisonTMEM70 Gene Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 NGS Genetic Test

Frequently Asked Questions

What is TMEM70 gene mitochondrial complex V deficiency?
TMEM70 gene mitochondrial complex V (ATP synthase) deficiency is a rare inherited mitochondrial disorder caused by mutations in the TMEM70 gene. This gene is needed for the proper assembly of mitochondrial complex V, which produces ATP, the main energy source of the body.
How is TMEM70-related mitochondrial complex V deficiency inherited?
Mutations in the TMEM70 gene are generally inherited in an autosomal recessive pattern, meaning a child must receive two altered copies of the gene, one from each parent, to develop the condition. Genetic counselling can help explain this in detail.
What are the symptoms of TMEM70 gene mitochondrial complex V deficiency?
Common symptoms include severe muscle weakness, poor muscle tone, developmental delays, intellectual disability, respiratory distress, heart problems, and lactic acidosis. The severity and age of onset can vary depending on the specific mutation.
How is TMEM70 gene mitochondrial complex V deficiency diagnosed?
Diagnosis usually involves clinical evaluation, biochemical tests to identify mitochondrial dysfunction, and genetic testing. NGS genetic testing of the TMEM70 gene can confirm the diagnosis by detecting disease-causing mutations.
Why is NGS used for TMEM70 gene testing?
NGS, or next-generation sequencing, allows the entire coding region and flanking splice sites of the TMEM70 gene to be analysed in one test. This improves diagnostic accuracy and turnaround time compared to older sequencing methods.
Who should consider this TMEM70 NGS genetic test?
This test may be considered for patients with clinical or biochemical features of mitochondrial disease, including unexplained hypotonia, developmental delay, lactic acidosis, cardiomyopathy, or respiratory distress. It is also appropriate for families with a known TMEM70 mutation.
What is the cost of the TMEM70 gene NGS genetic test at DNA Labs India?
The special discounted price for this test is INR 20,000. Free home sample collection is available for online bookings across India.
What sample is required for this genetic test?
The test accepts blood, extracted DNA, or one drop of blood on an FTA card. No fasting is required.
Does the TMEM70 gene NGS test require fasting?
No fasting or special preparation is required. However, a pre-test genetic counselling session is recommended to review clinical history and family pedigree.
What is the turnaround time for this test?
The test reports are delivered in 3 to 4 weeks after the sample reaches the laboratory.
Will I receive raw data files with the clinical report?
Yes. DNA Labs India provides the conclusive clinical report along with raw data files including FASTQ and VCF files for transparency.
How should the test result be interpreted?
The result should be interpreted by a doctor or genetic counsellor using the clinical presentation, biochemical findings, and family history. Positive, negative, and variant of uncertain significance results each have different implications.
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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