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Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test Cost

Original price was: 1,430 د.إ.Current price is: 1,290 د.إ.

-10%

Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC), also known as Van der Knaap disease, is a rare genetic disorder characterized by an abnormally large brain (megalencephaly) along with white matter abnormalities and the formation of cysts in the subcortical area of the brain. This condition leads to a variety of neurological symptoms, including motor function decline, epilepsy, and ataxia. The disease primarily affects children and is caused by mutations in the MLC1 or HEPACAM genes.

To accurately diagnose this condition, the Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test is utilized. This genetic test specifically targets the hotspot mutations within the MLC1 and HEPACAM genes that are commonly associated with the disease. The test is a crucial tool for confirming the diagnosis of MLC, enabling targeted management and therapy for affected individuals.

DNA Labs UAE offers this specialized genetic testing service. The test cost is set at 1290 AED, providing an accessible option for families seeking answers about this rare condition. By identifying the specific mutations causing MLC, this test facilitates a better understanding of the disease’s progression and potential interventions.

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  • This test is not intended for medical diagnosis or treatment
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MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS VAN DER KNAAP AND NALBAND MLC GENE HOTSPOT MUTATION Test

At DNA Labs UAE, we offer the MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS VAN DER KNAAP AND NALBAND MLC GENE HOTSPOT MUTATION Test to diagnose megalencephalic leukoencephalopathy with subcortical cysts (MLC). MLC is a rare genetic disorder characterized by abnormal brain development and the presence of cysts in the subcortical white matter.

The MLC gene hotspot mutation test specifically looks for mutations in the MLC1 gene, which is responsible for the production of a protein involved in the formation and maintenance of myelin, the protective covering of nerve fibers. Mutations in this gene disrupt the normal function of myelin, leading to the symptoms and characteristics of MLC.

The test is typically performed using a blood sample or a sample of DNA extracted from cells. It involves analyzing the DNA sequence of the MLC1 gene to identify any mutations or abnormalities. If a mutation in the MLC gene hotspot is found, it confirms the diagnosis of MLC.

Genetic testing for MLC can be helpful in confirming a suspected diagnosis, guiding treatment decisions, and providing information about the likelihood of passing on the condition to future generations. It can also assist in genetic counseling and family planning.

Please note that the MLC gene hotspot mutation test is specific to MLC and will not detect mutations in other genes associated with similar conditions. It is important to consult with a healthcare professional or genetic counselor to determine the most appropriate genetic test for an individual’s specific situation.

Test Details:

  • Test Name: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS VAN DER KNAAP AND NALBAND MLC GENE HOTSPOT MUTATION Test
  • Test Components: MLC1 Gene
  • Price: 1290.0 AED
  • Sample Condition: 4 mL (2 mL min.) whole blood in 1 Lavender Top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
  • Report Delivery: SampleMon by 11 am; Report Fri
  • Method: PCR, Sequencing
  • Test Type: Disorders of Nervous system
  • Doctor: Neurologist
  • Test Department: MOLECULAR DIAGNOSTICS
  • Pre Test Information: Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
Test Name MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS VAN DER KNAAP AND NALBAND MLC GENE HOTSPOT MUTATION Test
Components *MLC1 Gene
Price 1290.0 AED
Sample Condition 4 mL (2 mL min.) whole blood in 1 Lavender Top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
Report Delivery SampleMon by 11 am; Report Fri
Method PCR, Sequencing
Test type Disorders of Nervous system
Doctor Neurologist
Test Department: MOLECULAR DIAGNOSTICS
Pre Test Information Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
Test Details

The MLC gene hotspot mutation test is a genetic test used to diagnose megalencephalic leukoencephalopathy with subcortical cysts (MLC). MLC is a rare genetic disorder characterized by the abnormal development of the brain and the presence of cysts in the subcortical white matter.

The test specifically looks for mutations in the MLC gene, which is responsible for the production of a protein involved in the formation and maintenance of myelin, the protective covering of nerve fibers. Mutations in this gene disrupt the normal function of myelin, leading to the symptoms and characteristics of MLC.

The test is typically performed using a blood sample or a sample of DNA extracted from cells. It involves analyzing the DNA sequence of the MLC gene to identify any mutations or abnormalities. If a mutation in the MLC gene hotspot is found, it confirms the diagnosis of MLC.

Genetic testing for MLC can be helpful in confirming a suspected diagnosis, guiding treatment decisions, and providing information about the likelihood of passing on the condition to future generations. It can also help in genetic counseling and family planning.

It is important to note that the MLC gene hotspot mutation test is specific to MLC and will not detect mutations in other genes associated with similar conditions. Therefore, it is crucial to consult with a healthcare professional or genetic counselor to determine the most appropriate genetic test for an individual’s specific situation.

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