Skip to main content
DNA Labs India

FBXL4 Gene Mitochondrial DNA depletion syndrome type 13 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

FBXL4 Gene Mitochondrial DNA depletion syndrome type 13 NGS Genetic Test

Short Name: FBXL4 MTDPS13 Genetic Test

Also known as: MTDPS13 Genetic Test, FBXL4 Gene Test, Mitochondrial DNA Depletion Syndrome Type 13 Test

FBXL4 Gene Mitochondrial DNA depletion syndrome type 13 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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

The purpose of this test is to detect mutations in the FBXL4 gene that cause Mitochondrial DNA Depletion Syndrome Type 13, aiding in diagnosis, treatment planning, and genetic counseling for affected individuals and families.

Test Code
1734
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
NGS Technology
Step 1

Sample Collection

No special preparation required. Inform the healthcare provider of any medications or medical conditions.

Method: Venipuncture or blood drop on FTA card

Step 2

Laboratory Analysis

A blood sample will be collected by a trained phlebotomist using standard venipuncture or a blood drop on an FTA card.

Step 3

Report Delivery

Apply gentle pressure to the puncture site to prevent bruising. Resume normal activities unless advised otherwise.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Schedule a genetic counseling session to discuss the test, indications, and implications.
2
During the Test:The blood draw is a quick procedure, typically taking less than 10 minutes.
3
After the Test:Results will be available in 3-4 weeks. Follow up with a genetic counselor or physician for interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the FBXL4 gene that cause Mitochondrial DNA Depletion Syndrome Type 13, aiding in diagnosis, treatment planning, and genetic counseling for affected individuals and families.

How to Prepare

  • Ensure proper patient identification
  • Use aseptic technique for blood collection
  • Label samples correctly with patient details

Doctor's Notes

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

"This genetic test is essential for diagnosing mitochondrial disorders in patients with neurological symptoms, aiding in early intervention and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5-10 ml for blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or blood drop on FTA card

Sample Stability

Blood samples are stable at room temperature for up to 48 hours
FTA card samples can be stored at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Incorrect labeling or container

Understanding Your Results

Results from the FBXL4 Gene MTDPS13 NGS Genetic Test indicate the presence or absence of mutations in the FBXL4 gene. Positive findings may confirm a diagnosis of MTDPS13, while negative results do not entirely rule out the condition if clinical suspicion remains high.
Pathogenic mutations detected: Confirms diagnosis of MTDPS13
No pathogenic mutations: Suggests no genetic cause identified, but further testing may be needed
Variant of uncertain significance: Requires additional family studies or clinical correlation
⚠️ When to Consult a Doctor:

Consult a healthcare professional if symptoms such as developmental delays, muscle weakness, seizures, or sensory impairments are present, or if there is a family history of MTDPS13.

Limitations

  • ⚠May not detect all possible mutations in the FBXL4 gene
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Rare risk of infection or fainting
  • ●Emotional impact of genetic results

Interfering Factors

  • ●DNA sample degradation
  • ●Contamination during collection or processing
  • ●Improper sample storage

Compare With Similar Tests

TestFBXL4 Gene Mitochondrial DNA depletion syndrome type 13 NGS Genetic TestWhole Exome SequencingMitochondrial Genome Analysis
ComparisonFBXL4 Gene Mitochondrial DNA depletion syndrome type 13 NGS Genetic Test

Frequently Asked Questions

What is FBXL4 Gene Mitochondrial DNA Depletion Syndrome Type 13?
It is a rare genetic disorder caused by mutations in the FBXL4 gene, leading to mitochondrial dysfunction and neurological symptoms.
What are the common symptoms of MTDPS13?
Symptoms include developmental delays, muscle weakness, walking difficulties, seizures, optic atrophy, and hearing loss.
How is the FBXL4 Gene MTDPS13 NGS Genetic Test performed?
The test involves collecting a blood sample or DNA extract, which is analyzed using Next-Generation Sequencing (NGS) to identify mutations in the FBXL4 gene.
What is the cost of this genetic test?
The test costs INR 20,000, including home sample collection across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in multiple cities across India.
How long does it take to receive the results?
Results are typically available within 3 to 4 weeks after sample collection.
Who should consider undergoing this test?
Individuals with symptoms of MTDPS13, a family history of the condition, or those suspected of having mitochondrial disorders.
What do the results of this test indicate?
Positive results confirm mutations in the FBXL4 gene, aiding in diagnosis, while negative results may require further evaluation.
Is genetic counseling recommended before and after the test?
Yes, genetic counseling is advised to understand the test implications, interpret results, and discuss management options.
Are there any risks associated with the genetic test?
The test involves minimal risks, such as minor bruising from blood draw, but carries emotional considerations due to genetic findings.
Is this test covered by insurance schemes like PMJAY or CGHS?
Coverage varies; check with your insurance provider or scheme administrator for details.
How accurate is the NGS Genetic Test for MTDPS13?
The test is highly accurate for detecting known mutations in the FBXL4 gene, but it may not identify all possible genetic variations.
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.

Related Tests

Angelman Syndrome Test

₹10,000

Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test

₹14,000

Episodic Ataxia Type 1 Hotspot Test

₹11,500

Episodic Ataxia Comprehensive Profile Hotspot Test

₹16,000

Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test

₹7,500

Analyzer 18 SMA 18 Test Panel

₹1,755
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.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ 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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.