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 diagnostic tool designed to detect mutations in the MLC1 gene. This test is crucial for patients suspected of having megalencephalic leukoencephalopathy, a rare neurological disorder characterized by abnormal brain development and function.
What the Test Measures
This test specifically measures the presence of mutations in the MLC1 gene, which is associated with various disorders of the nervous system, including megalencephalic leukoencephalopathy with subcortical cysts. The detection of these mutations can provide valuable insights into the underlying genetic causes of neurological symptoms.
Who Should Consider This Test
Individuals exhibiting symptoms such as:
- Enlarged head (macrocephaly)
- Developmental delays
- Neurological deficits
- Seizures
Patients with a family history of neurological disorders or those referred by a neurologist for further evaluation should consider this test.
Benefits of Taking the Test
- Accurate diagnosis of genetic causes of neurological disorders.
- Informed decision-making regarding treatment options.
- Better understanding of prognosis and disease progression.
- Potential for genetic counseling for affected families.
Understanding Your Results
Results from the Megalencephalic Leukoencephalopathy with Subcortical Cysts Van der Knaap and Nalband MLC Gene Hotspot Mutation Test will indicate whether any mutations were detected in the MLC1 gene. A positive result may suggest a genetic predisposition to neurological disorders, while a negative result may help rule out certain conditions. It is essential to discuss your results with a healthcare provider for comprehensive interpretation.
Test Pricing
| Discount Price | Regular Price |
|---|---|
| 15,000 KSh | 24,000 KSh |
Sample Collection and Test Instructions
Sample Type: 4 mL (2 mL min.) whole blood in 1 Lavender Top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. A duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory for the test.
Branches and Booking
We have branches across major cities in Kenya, providing easy access to our diagnostic services. To book the Megalencephalic Leukoencephalopathy with Subcortical Cysts Van der Knaap and Nalband MLC Gene Hotspot Mutation Test, please call or WhatsApp us at +254746849631.
