Short Description

NGS genetic DNA test detecets for variant and mutation detection in MLC1 gene for Megalencephalic leukoencephalopathy with subcortical cysts

PreTest Information

Clinical History of Patient who is going for MLC1 Gene Megalencephalic leukoencephalopathy with subcortical cysts NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with MLC1 Gene Megalencephalic leukoencephalopathy with subcortical cysts

Detail Description

MLC1 Gene: Megalencephalic Leukoencephalopathy with Subcortical Cysts NGS Genetic DNA Test

Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC) is a rare genetic disorder that affects the white matter of the brain. It is caused by a mutation in the MLC1 gene, which is responsible for producing a protein that helps maintain the structure of the brain.

MLC is characterized by an enlarged brain and the presence of fluid-filled cysts in the subcortical region of the brain. The symptoms of MLC can vary widely, but typically include delayed development, seizures, and difficulty with coordination and balance. In some cases, the disease can progress to the point where the individual is unable to walk or communicate.

Diagnosis

MLC is typically diagnosed through a combination of physical examination, medical history, and genetic testing. Genetic testing is the most accurate way to diagnose MLC and involves analyzing a sample of the patient's DNA to look for mutations in the MLC1 gene.

NGS (Next-Generation Sequencing) is a type of genetic testing that is particularly effective at identifying mutations in the MLC1 gene. NGS uses advanced technology to sequence large amounts of DNA quickly and accurately, making it an ideal choice for diagnosing rare genetic disorders like MLC.

Symptoms

The symptoms of MLC can vary widely depending on the severity of the disease and the age at which it first appears. Some common symptoms of MLC include:

• Delayed development (particularly in motor skills)
• Seizures
• Difficulty with coordination and balance
• Enlarged head (macrocephaly)
• Loss of previously acquired skills or abilities
• Difficulty with speech and communication

Cost of NGS Genetic DNA Test

The cost of an NGS genetic DNA test for MLC1 gene mutation is approximately INR 20,000. However, the exact cost may vary depending on the testing facility and any additional tests that may be required.

Conclusion

MLC is a rare genetic disorder that can be difficult to diagnose due to its wide range of symptoms. However, with the help of advanced genetic testing technologies like NGS, diagnosis is becoming easier and more accurate. If you suspect that you or a loved one may have MLC, it is important to seek medical attention as soon as possible to receive a proper diagnosis and begin appropriate treatment.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for MLC1 Gene Megalencephalic leukoencephalopathy with subcortical cysts NGS Genetic DNA Test