Skip to main content
DNA Labs India

DNM1L Gene Encephalopathy lethal, due to defective mitochondrial peroxisomal fission NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

DNM1L Gene Encephalopathy lethal, due to defective mitochondrial peroxisomal fission NGS Genetic Test

Short Name: DNM1L Gene NGS Test

Also known as: DNM1L Gene Sequencing, Mitochondrial Peroxisomal Fission Defect Genetic Test, Lethal Encephalopathy NGS Panel

DNM1L Gene Encephalopathy lethal, due to defective mitochondrial peroxisomal fission 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 issued 3 to 4 weeks after the sample is received at 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

The purpose of this test is to identify disease-causing variants in the DNM1L gene in individuals suspected of having lethal encephalopathy due to defective mitochondrial and peroxisomal fission. It provides a molecular confirmation for clinical diagnosis, helps in genetic counselling, and enables appropriate management and recurrence risk assessment.

Test Code
4053
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are issued 3 to 4 weeks after the sample is received at the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. Please provide complete clinical history and genetic counselling records. A genetic counselling session to draw a pedigree chart is recommended before the test.

Method: Venipuncture or Dried Blood Spot

Step 2

Laboratory Analysis

A standard venipuncture will be performed by a trained phlebotomist. If using FTA card, a single drop of blood is applied gently onto the marked circle and allowed to air dry.

Step 3

Report Delivery

There are no specific after-collection restrictions. The sample should be transported to the laboratory as per instructions. Normal activities can be resumed immediately.

Timeline: Reports are issued 3 to 4 weeks after the sample is received at the laboratory.

Patient Instructions

1
Before the Test:No specific preparation. Your doctor may advise genetic counselling to discuss the purpose, possible outcomes and implications of the test.
2
During the Test:During the blood collection, only a small amount of blood is drawn. The procedure is quick and generally painless.
3
After the Test:You can resume daily activities immediately after sample collection. Report will be shared once available, in 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to identify disease-causing variants in the DNM1L gene in individuals suspected of having lethal encephalopathy due to defective mitochondrial and peroxisomal fission. It provides a molecular confirmation for clinical diagnosis, helps in genetic counselling, and enables appropriate management and recurrence risk assessment.

How to Prepare

  • No fasting required. Patient can eat normally.
  • Carry any prior genetic reports or family pedigree documents, if available.
  • For FTA card, ensure the blood spot is completely dry before packing.
  • The sample should be properly labelled with patient name, date, and time of collection.

Doctor's Notes

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

"For a neonate or child presenting with unexplained encephalopathy, hypotonia, seizures, and ophthalmological signs, an early genetics evaluation can determine precise etiologies such as DNM1L-related disorders. This helps guide counselling regarding prognosis and recurrence risk."

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 whole blood in EDTA / 1 drop blood on FTA card / 2-3 µg extracted DNA
ContainerEDTA tube / FTA card / sterile DNA vial
Collection MethodVenipuncture or Dried Blood Spot

Sample Stability

Whole blood (EDTA): stable for 72 hours at 2-8°C
Dried blood spot (FTA card): stable for 6 months at room temperature
Extracted DNA: stable for 6 months at -20°C
Sample Rejection Criteria:
  • Clotted or haemolysed blood sample
  • Wrong anticoagulant tube
  • Incorrect or incomplete labelling
  • Sample mismatch due to improper documentation

Understanding Your Results

This test is diagnostic for DNM1L-related encephalopathy. The report should be interpreted by a clinical geneticist in the context of clinical features and family history.
📊

Pathogenic variant detected

Confirms the clinical diagnosis of DNM1L encephalopathy. Refer for genetic counselling.

📊

Likely pathogenic variant detected

Strong evidence for pathogenicity. Additional family testing is recommended to clarify.

📊

Variant of uncertain significance detected

Variant cannot be classified as pathogenic or benign. Parental segregation may aid interpretation.

📊

No pathogenic variant detected

A genetic cause in DNM1L is unlikely. Consider alternative diagnoses or expanded genetic testing.

⚠️ When to Consult a Doctor:

If you or your child has unexplained developmental delay, seizures, hypotonia, abnormal eye movements, or respiratory issues with suspicion of a mitochondrial/peroxisomal fission disorder, consult a paediatric neurologist or clinical geneticist.

Limitations

  • ⚠This NGS test analyses the coding region and intron-exon boundaries of DNM1L gene. It cannot detect deep intronic mutations, partial/whole gene deletions/duplications, or mitochondrial DNA defects.
  • ⚠Variants of uncertain significance may require parental segregation studies to clarify pathogenicity.
  • ⚠A negative result does not exclude other causes of encephalopathy; a broader gene panel or exome sequencing may be required.

Risks & Considerations

  • ●No significant risks associated with blood sample collection; minimal discomfort or bruising at the site.

Interfering Factors

  • ●Highly degraded DNA
  • ●Maternal blood contamination
  • ●Presence of DNM1L pseudogene sequence homology
  • ●Inadequate DNA quantity or quality

Compare With Similar Tests

TestDNM1L Gene Encephalopathy lethal, due to defective mitochondrial peroxisomal fission NGS Genetic Test
ComparisonDNM1L Gene Encephalopathy lethal, due to defective mitochondrial peroxisomal fission NGS Genetic Test

Frequently Asked Questions

What is DNM1L gene encephalopathy?
It is a rare inherited disorder caused by mutations in the DNM1L gene, leading to defective mitochondrial and peroxisomal fission. Symptoms appear early in life and include severe developmental delay, seizures, hypotonia, and respiratory failure.
What are the first symptoms in a child?
Usually begin in infancy with hypotonia, feeding difficulties, seizures, abnormal eye movements, and developmental regression.
How does NGS genetic testing help in diagnosis?
NGS sequencing detects mutations in the DNM1L gene, providing a molecular confirmation. It helps distinguish from other mitochondrial encephalopathies and guides recurrence risk counselling.
What sample is required for the DNM1L NGS test?
Blood (2-3 ml in EDTA), extracted DNA, or dried blood spot on FTA card can be used.
Is fasting required before the test?
No, fasting is not required.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across all major Indian cities for online bookings.
What is the turnaround time for this test?
The report is issued in 3 to 4 weeks from the date of sample receipt.
Can the test be done for prenatal diagnosis?
Prenatal testing is not offered directly in this panel; however, if the familial mutation is known, a targeted prenatal test can be arranged through a specialist. You must consult your clinical geneticist.
Does this test detect all types of DNM1L mutations?
NGS detects point mutations and small insertions/deletions in coding exons and splice sites. Large deletions/duplications or deep intronic mutations may require additional testing.
Is this test covered by insurance in India?
Coverage varies. Government schemes such as PMJAY/CGHS/ECHS do not routinely cover this test; private insurance may cover partial/full cost depending on the policy. Get a pre-authorization from the insurer.
What can patients expect from the report?
The report describes whether a pathogenic/likely pathogenic variant is detected in the DNM1L gene, variant classification (ACMG scoring), zygosity, and clinical interpretation with recommendations.
How early should this test be done?
As soon as a clinical suspicion is raised in an infant/child with unexplained encephalopathy or an affected family member. Early molecular diagnosis helps manage prognosis and family planning.
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.