MLC1 Gene Mutation Analysis Agrawal Mutation Test
Welcome to DNA Labs UAE, where we offer the MLC1 Gene Mutation Analysis Agrawal Mutation Test. This test is designed to detect a specific mutation in the MLC1 gene that is associated with a rare genetic disorder called megalencephalic leukoencephalopathy with subcortical cysts (MLC).
Test Details
The MLC1 gene, also known as the megalencephalic leukoencephalopathy with subcortical cysts 1 gene, is associated with a rare genetic disorder called megalencephalic leukoencephalopathy with subcortical cysts (MLC). This disorder is characterized by abnormal enlargement of the brain (megalencephaly) and the presence of cysts in the white matter of the brain.
The Agrawal mutation refers to a specific mutation in the MLC1 gene that was first identified in a study by Agrawal et al. in 2003. This mutation is a deletion of a single nucleotide in the MLC1 gene, leading to a frameshift mutation. Frameshift mutations result in a change in the reading frame of the gene, causing a disruption in the normal protein production.
The Agrawal mutation has been found to be associated with a severe form of MLC, characterized by early onset of symptoms and rapid progression of the disease. Individuals with this mutation typically experience developmental delay, seizures, difficulty walking, and progressive loss of motor and cognitive function.
Test Components
- Sterile container
- Sterile Normal Saline Container
- EDTA Vacutainer (2ml)
Test Price
AED 1800.0
Sample Condition
Peripheral blood/Amniotic Fluid/Chorionic villi/Cord blood
Report Delivery
7-8 days
Test Method
Sanger Sequencing
Test Type
Genetics
Referring Doctor
Gynecologist
Test Department
Pre Test Information
MLC1 Gene Mutation Analysis (Agrawal Mutation) can be done with a doctor’s prescription. Prescription is not applicable for surgery and pregnancy cases or people planning to travel abroad.
Conclusion
Genetic testing can be performed to identify the Agrawal mutation in individuals suspected to have MLC. This can help confirm the diagnosis and provide important information for genetic counseling and family planning.
| Test Name | MLC1 Gene Mutation Analysis Agrawal Mutation Test |
|---|---|
| Components | Sterile container/ Sterile Normal Saline Container/ EDTA Vacutainer (2ml) |
| Price | 1800.0 AED |
| Sample Condition | Peripheral blood\/Amniotic Fluid\/ Chorionic villi\/ Cord blood |
| Report Delivery | 7-8 days |
| Method | Sanger Sequencing |
| Test type | Genetics |
| Doctor | Gynecologist |
| Test Department: | |
| Pre Test Information | MLC1 Gene Mutation Analysis (Agrawal Mutation) can be done with a Doctors prescription. Prescription is not applicable for surgery and pregnancy cases or people planing to travel abroad. |
| Test Details |
The MLC1 gene, also known as the megalencephalic leukoencephalopathy with subcortical cysts 1 gene, is associated with a rare genetic disorder called megalencephalic leukoencephalopathy with subcortical cysts (MLC). This disorder is characterized by abnormal enlargement of the brain (megalencephaly) and the presence of cysts in the white matter of the brain. The Agrawal mutation refers to a specific mutation in the MLC1 gene that was first identified in a study by Agrawal et al. in 2003. This mutation is a deletion of a single nucleotide in the MLC1 gene, leading to a frameshift mutation. Frameshift mutations result in a change in the reading frame of the gene, causing a disruption in the normal protein production. The Agrawal mutation has been found to be associated with a severe form of MLC, characterized by early onset of symptoms and rapid progression of the disease. Individuals with this mutation typically experience developmental delay, seizures, difficulty walking, and progressive loss of motor and cognitive function. Genetic testing can be performed to identify the Agrawal mutation in individuals suspected to have MLC. This can help confirm the diagnosis and provide important information for genetic counseling and family planning. |
