DNM1L Gene Encephalopathy Lethal Due To Defective Mitochondrial Peroxisomal Fission NGS Genetic DNA Test
Introduction to the DNM1L Gene Encephalopathy Test
The DNM1L Gene Encephalopathy Lethal Due To Defective Mitochondrial Peroxisomal Fission NGS Genetic DNA Test is a specialized diagnostic tool designed to identify genetic mutations associated with severe neurological disorders. This test leverages Next-Generation Sequencing (NGS) technology, enabling healthcare professionals to detect mutations in the DNM1L gene, which plays a crucial role in mitochondrial function. Understanding these genetic factors is vital for diagnosing conditions that can lead to debilitating symptoms or even life-threatening complications.
What the Test Measures
This genetic test specifically measures the presence of mutations in the DNM1L gene that may lead to encephalopathy due to defective mitochondrial peroxisomal fission. By analyzing the genetic material, clinicians can gain insights into the underlying causes of neurological disorders.
Who Should Consider This Test?
Individuals exhibiting symptoms of neurological disorders, particularly those with a family history of DNM1L-related conditions, should consider this test. Symptoms may include:
- Severe developmental delays
- Seizures
- Muscle weakness
- Neurological regression
Risk factors include a known family history of mitochondrial disorders or unexplained neurological symptoms that are difficult to diagnose.
Benefits of Taking the Test
- Early and accurate diagnosis of genetic conditions.
- Informed treatment options and management strategies.
- Guidance for family planning and genetic counseling.
- Access to specialized care and support for affected individuals.
Understanding Your Results
Results from the DNM1L Gene Encephalopathy test will be interpreted by a qualified geneticist or neurologist. A positive result indicates the presence of a mutation, which may necessitate further clinical evaluation and management. A negative result does not rule out the possibility of other genetic conditions, and ongoing consultation with healthcare providers is recommended.
Test Pricing
| Price Type | Amount (NGN) |
|---|---|
| Discount Price | 400000 NGN |
| Regular Price | 560000 NGN |
Book Your Test Today!
Taking the first step towards understanding your genetic health is crucial. To book the DNM1L Gene Encephalopathy Lethal Due To Defective Mitochondrial Peroxisomal Fission NGS Genetic DNA Test, please contact us at +2348077798758 or visit our website to schedule your appointment.
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
Pre-Test Instructions: A clinical history of the patient is required, along with a genetic counseling session to draw a pedigree chart of family members affected with DNM1L Gene Encephalopathy.
Specialties involved include Neurologists and Geneticists, ensuring comprehensive care and support for patients undergoing this important genetic testing.
