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MTFMT Gene Combined oxidative phosphorylation deficiency type 15 NGS Genetic Test

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MTFMT Gene Combined oxidative phosphorylation deficiency type 15 NGS Genetic Test

Short Name: MTFMT Gene COXPD15 NGS Test

Also known as: COXPD15, Combined oxidative phosphorylation deficiency 15

MTFMT Gene Combined oxidative phosphorylation deficiency type 15 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 3 to 4 Weeks. 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 diagnose Combined oxidative phosphorylation deficiency type 15 by detecting mutations in the MTFMT gene using Next Generation Sequencing technology, enabling early intervention and genetic counseling.

Test Code
1931
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

Inform the healthcare provider about any medications, recent blood transfusions, or medical history relevant to genetic testing.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard blood draw procedure using sterile equipment; alternatively, a drop of blood on an FTA card can be collected.

Step 3

Report Delivery

Apply gentle pressure to the puncture site to stop bleeding; keep the area clean and dry.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:A genetic counseling session is recommended to understand the implications, benefits, and limitations of the test.
2
During the Test:Blood sample is collected via venipuncture or alternative methods; DNA is extracted and sequenced using NGS technology.
3
After the Test:Results are interpreted by a genetic specialist and discussed with the patient or family. Follow-up counseling may be advised.

About This Test

Who Should Get This Test

To diagnose Combined oxidative phosphorylation deficiency type 15 by detecting mutations in the MTFMT gene using Next Generation Sequencing technology, enabling early intervention and genetic counseling.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection tubes or FTA cards
  • Label samples accurately with patient details
  • Transport samples at ambient room temperature

Doctor's Notes

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

"This test is crucial for early diagnosis of COXPD15, allowing for timely management, genetic counseling, and informed family planning decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture

Sample Stability

Blood samples are stable for up to 48 hours at room temperature
Extracted DNA samples can be stored longer under proper conditions
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Improperly labeled or contaminated samples
  • Insufficient sample volume

Understanding Your Results

Results from the MTFMT Gene NGS test indicate the presence or absence of mutations linked to Combined oxidative phosphorylation deficiency type 15.
Positive result: Pathogenic mutation detected, confirming diagnosis of COXPD15.
Negative result: No pathogenic mutation found, but clinical symptoms may require further testing.
Variant of uncertain significance (VUS): Additional family studies or functional assays may be needed.
⚠️ When to Consult a Doctor:

If symptoms such as developmental delay, muscle weakness, seizures, or respiratory issues are present, or if there is a family history of COXPD15 or metabolic disorders, consult a healthcare professional for evaluation and possible testing.

Limitations

  • ⚠May not detect all types of genetic variants
  • ⚠Results require interpretation by a genetic counselor or specialist
  • ⚠Does not rule out other genetic or metabolic disorders

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection at the puncture site
  • ●Emotional impact of genetic results; genetic counseling is advised

Interfering Factors

  • ●Hemolyzed blood samples
  • ●Insufficient DNA quantity
  • ●Recent blood transfusions

Compare With Similar Tests

TestMTFMT Gene Combined oxidative phosphorylation deficiency type 15 NGS Genetic TestSanger Sequencing for MTFMT GeneWhole Exome SequencingMitochondrial DNA SequencingMetabolic Panel Tests
ComparisonMTFMT Gene Combined oxidative phosphorylation deficiency type 15 NGS Genetic TestSanger sequencing is targeted but may miss large deletions; NGS offers comprehensive analysis.WES analyzes all genes but is more expensive; this test is focused and cost-effective for COXPD15.Mitochondrial tests focus on mitochondrial genes; this test targets nuclear MTFMT gene.Metabolic panels measure biomarkers; genetic tests provide definitive diagnosis.

Frequently Asked Questions

What is the MTFMT Gene COXPD15 NGS Genetic Test?
This test uses Next Generation Sequencing to detect mutations in the MTFMT gene, diagnosing Combined oxidative phosphorylation deficiency type 15, a rare genetic disorder affecting energy production.
What are the symptoms of Combined oxidative phosphorylation deficiency type 15?
Symptoms include developmental delay, low muscle tone, weakness, poor feeding, seizures, and difficulty breathing, often appearing in infancy.
How is the test performed?
A blood sample or extracted DNA is collected and analyzed using NGS technology to sequence the MTFMT gene.
What is the cost of the test?
The test costs INR 20000, with free home sample collection available across India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result confirms the presence of a pathogenic mutation in the MTFMT gene, diagnosing COXPD15 and guiding management and counseling.
Can this test be done for children?
Yes, the test can be performed on individuals of all ages, including infants and children, with symptoms or family history.
Is the test painful?
The test involves a standard blood draw, which may cause minor discomfort or bruising, but it is generally not painful.
What is the accuracy of the test?
NGS technology provides high accuracy in detecting genetic variants, but interpretation should be done by a qualified geneticist or healthcare provider.
Do I need a doctor's referral for the test?
While a referral is not mandatory, it is recommended to ensure proper clinical context and genetic counseling.
What happens after a diagnosis?
After diagnosis, a genetic counselor or specialist will discuss management options, support resources, and family planning 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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For Hospitals & Clinics

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.

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✓ 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.

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