Megalencephalic Leukoencephalopathy With Subcortical Cysts Van Der Knaap And Nalband MLC Gene Hotspot Mutation Test
Introduction
The Megalencephalic Leukoencephalopathy With Subcortical Cysts Van Der Knaap And Nalband MLC Gene Hotspot Mutation Test is a specialized genetic test that plays a vital role in diagnosing a rare neurological disorder characterized by abnormal brain development. This test is essential for individuals who may be at risk for this condition, allowing for early detection and intervention.
What the Test Measures
This test specifically measures mutations in the MLC1 gene, which are associated with megalencephalic leukoencephalopathy. By analyzing the genetic material from a blood sample, this test can confirm the presence of these mutations, leading to a clearer understanding of the patient’s condition.
Who Should Consider This Test
Individuals who exhibit symptoms such as:
- Abnormal brain size (megalencephaly)
- Seizures
- Developmental delays
- Neurological deficits
Additionally, those with a family history of neurological disorders or genetic conditions should consider this test to assess their risk.
Benefits of Taking the Test
- Early diagnosis of potential neurological disorders.
- Informed decision-making regarding treatment options.
- Family planning and genetic counseling for at-risk families.
- Peace of mind through understanding genetic health risks.
Understanding Your Results
Results from the Megalencephalic Leukoencephalopathy With Subcortical Cysts Van Der Knaap And Nalband MLC Gene Hotspot Mutation Test will be reviewed by a qualified neurologist. Patients will receive comprehensive guidance on interpreting their results and the implications for their health and treatment options.
Test Pricing
| Test Name | Discount Price (NGN) | Regular Price (NGN) |
|---|---|---|
| Megalencephalic Leukoencephalopathy With Subcortical Cysts Van Der Knaap And Nalband MLC Gene Hotspot Mutation Test | 150,000 NGN | 240,000 NGN |
How to Book the Test
To book the Megalencephalic Leukoencephalopathy With Subcortical Cysts Van Der Knaap And Nalband MLC Gene Hotspot Mutation Test, please contact us at +2348077798758. Our team is ready to assist you with the booking process and answer any questions you may have.
Test Details
- Sample Type: 4 mL (2 mL min.) whole blood in 1 Lavender Top (EDTA) tube. Ship refrigerated. DO NOT FREEZE.
- Turnaround Time: Sample received by Monday 11 AM; report available by Friday.
- Pre-Test Instructions: Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
This test is performed in our Molecular Diagnostics department using advanced PCR and Sequencing methods, ensuring accurate and reliable results for disorders of the nervous system.
