NFU1 Gene Multiple mitochondrial dysfunctions syndrome type 1 NGS Genetic Test
Short Name: NFU1 MMDS1 NGS
Also known as: NFU1 Gene Mutation Test, Multiple Mitochondrial Dysfunctions Syndrome Type 1 Genetic Test, MMDS1 NGS Test
NFU1 Gene Multiple mitochondrial dysfunctions syndrome type 1 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.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of the NFU1 gene MMDS1 NGS genetic test is to detect pathogenic or likely pathogenic variants in the NFU1 gene to confirm or exclude the diagnosis of Multiple Mitochondrial Dysfunctions Syndrome Type 1, enabling timely medical management and informed reproductive counselling.
- Test Code
- 4338
- 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)
Sample Collection
Provide a complete clinical history of the patient, including neurological, respiratory, and cardiac symptoms. Attend a genetic counselling session to draw a pedigree chart and document affected family members. No fasting is required.
Method: Peripheral blood draw or dried blood spot
Laboratory Analysis
A trained phlebotomist will collect a blood sample in an EDTA tube. Alternatively, a few drops of blood can be placed on an FTA card for dried blood spot analysis. If extracted DNA is provided, it will be checked for quantity and quality.
Report Delivery
There are no activity restrictions after sample collection. For FTA cards, allow the spot to air dry before packaging. The sample should be sent to the laboratory as per the provided instructions.
Timeline: Reports are delivered within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the NFU1 gene MMDS1 NGS genetic test is to detect pathogenic or likely pathogenic variants in the NFU1 gene to confirm or exclude the diagnosis of Multiple Mitochondrial Dysfunctions Syndrome Type 1, enabling timely medical management and informed reproductive counselling.
How to Prepare
- Use an EDTA tube for blood sample collection
- Home collection is available with prior booking
- For FTA card, apply a few drops of blood onto the card and air dry
- Label the sample with patient name, date, and unique ID
- Ship the sample at ambient temperature
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Patients with a family history of unexplained infantile neurodegenerative disease should receive genetic counselling and NFU1 sequencing to clarify recurrence risks in future pregnancies."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Improperly labeled sample
- Incomplete patient documentation
- Insufficient DNA concentration
Understanding Your Results
Consult a pediatric neurologist or clinical geneticist if a child presents with unexplained developmental delay, hypotonia, seizures, respiratory difficulty, visual impairment, or cardiac abnormalities in the context of suspected mitochondrial disease.
Limitations
- ⚠NGS may not detect large deletions, duplications, or structural rearrangements
- ⚠Variants in non-captured regulatory regions are not analysed
- ⚠A negative result does not exclude mitochondrial disease caused by variants in other genes
- ⚠Variant of uncertain significance requires further family studies
Risks & Considerations
- ●Minor pain or bruising at the venipuncture site
- ●Dizziness or fainting during blood collection
- ●No serious health risks are associated with this genetic test
Interfering Factors
- ●Recent blood transfusion may dilute patient DNA
- ●Bone marrow transplantation can affect germline variant interpretation
- ●Poor quality or degraded DNA may reduce sequencing coverage
- ●Sample contamination can lead to false results
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Frequently Asked Questions
What is the cost of the NFU1 gene MMDS1 NGS genetic test at DNA Labs India?
What type of sample is required for this test?
Do I need to fast before giving a blood sample for this genetic test?
Which symptoms indicate the need for this NFU1 gene test?
How are the results delivered?
How long does it take to get the test report?
Is home sample collection available for this test?
Does the price include genetic counselling?
Can NGS detect all NFU1 gene mutations?
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