DNM1L Gene Encephalopathy Lethal Due to Defective Mitochondrial Peroxisomal Fission NGS Genetic DNA Test
Comprehensive Genetic Testing for Severe Neurological Disorders
The DNM1L Gene Encephalopathy NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the DNM1L gene, which plays a critical role in mitochondrial and peroxisomal function. This specialized test provides essential insights into rare but devastating neurological conditions affecting infants and young children, enabling accurate diagnosis and informed medical decision-making.
What Does This Test Measure?
This advanced genetic analysis specifically targets the DNM1L gene, which encodes dynamin-1-like protein – a crucial component in mitochondrial and peroxisomal fission processes. The test utilizes Next Generation Sequencing (NGS) technology to:
- Identify pathogenic variants in the DNM1L gene
- Detect mutations affecting mitochondrial dynamics
- Analyze genetic abnormalities impacting peroxisomal function
- Provide comprehensive coverage of coding regions and splice sites
- Offer high-resolution detection of single nucleotide variants and small insertions/deletions
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with the following clinical features:
- Infants and children with progressive encephalopathy
- Patients exhibiting developmental regression or stagnation
- Individuals with refractory seizures or epileptic encephalopathy
- Cases of unexplained neurological deterioration
- Patients with suspected mitochondrial disorders
- Children with abnormal brain imaging findings
- Families with history of similar neurological conditions
- Cases where conventional diagnostic methods have been inconclusive
Clinical Benefits of DNM1L Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Provides definitive identification of DNM1L-related disorders
- Family Planning: Enables informed reproductive decisions for at-risk families
- Treatment Guidance: Helps direct appropriate therapeutic interventions
- Prognostic Information: Offers insights into disease progression and outcomes
- Genetic Counseling: Supports comprehensive family risk assessment
- Research Contribution: Advances understanding of rare neurological conditions
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your DNM1L test results:
- Positive Result: Indicates the presence of pathogenic DNM1L mutations, confirming the diagnosis of encephalopathy due to defective mitochondrial peroxisomal fission
- Negative Result: Suggests that DNM1L mutations are not detected, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
All results are accompanied by detailed genetic counseling to ensure proper understanding and appropriate next steps.
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We have comprehensive testing facilities across the United States, with branches in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network ensures convenient access to advanced genetic testing services regardless of your location.
Pre-Test Requirements
Before undergoing the DNM1L Gene Encephalopathy test, patients should provide:
- Complete clinical history of the patient
- Participation in a genetic counseling session
- Development of a detailed pedigree chart documenting family members affected with similar conditions
- Appropriate sample collection (Blood, Extracted DNA, or One drop Blood on FTA Card)
Turnaround Time: 3 to 4 Weeks
Take the Next Step Toward Diagnosis
If you or your loved one is experiencing symptoms suggestive of DNM1L-related encephalopathy, don’t delay in seeking accurate genetic diagnosis. Our team of genetic specialists and neurologists is ready to provide comprehensive testing and counseling services.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your appointment or book your test online. Early diagnosis can make a significant difference in management and family planning decisions.
