Short Description

Megaloencephalic Leukoencephalopathy with Subcortical cysts (MLC) is characterized by early-onset macrocephaly, often in combination with mild gross motor developmental delay and seizures gradual onset of ataxia, spasticity and sometimes extrapyramidal findings along with late onset of mild mental deterioration. MLC type 1 which accounts for 75% of cases is due to mutations in the MLC1 gene. The gene MLC1 codes for protein found in astroglial cells. Mutations in the HEPACAM gene cause MLC types 2A and 2B, together which account for 20% of all cases. The gene HEPACAM codes for a protein called GlialCAM which primarily functions in the brain, particularly in glial cells.

PreTest Information

Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.

Detail Description

Nx GEN SEQUENCING: MEGALOENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS Test cost INR:23400 symptoms diagnosis

Have you or a loved one been experiencing symptoms of Megaloencephalic Leukoencephalopathy with Subcortical Cysts? This rare genetic disorder affects the brain and spinal cord, causing symptoms such as seizures, developmental delays, and problems with movement and coordination.

At DNA Labs India, we offer Nx GEN SEQUENCING testing for Megaloencephalic Leukoencephalopathy with Subcortical Cysts. This advanced genetic test can help diagnose this rare disorder, giving patients and their families the answers they need to better manage their condition.

Symptoms of Megaloencephalic Leukoencephalopathy with Subcortical Cysts

The symptoms of Megaloencephalic Leukoencephalopathy with Subcortical Cysts can vary widely from patient to patient, but some common symptoms include:

• Seizures
• Developmental delays
• Problems with movement and coordination
• Speech and language problems
• Vision problems
• Behavioral problems
• Cognitive impairment
• Hydrocephalus (fluid buildup in the brain)

If you or a loved one is experiencing any of these symptoms, it's important to speak with a healthcare provider and consider genetic testing for Megaloencephalic Leukoencephalopathy with Subcortical Cysts.

Diagnosing Megaloencephalic Leukoencephalopathy with Subcortical Cysts

Diagnosing Megaloencephalic Leukoencephalopathy with Subcortical Cysts can be challenging, as the disorder is rare and the symptoms can be similar to other neurological conditions. However, genetic testing with Nx GEN SEQUENCING can help provide a definitive diagnosis.

Nx GEN SEQUENCING is a cutting-edge genetic test that uses next-generation sequencing technology to analyze a patient's DNA. This allows our team of genetic experts to identify any mutations or changes in the DNA that may be causing the patient's symptoms.

By identifying the specific genetic cause of Megaloencephalic Leukoencephalopathy with Subcortical Cysts, patients and their families can better understand their condition and access appropriate care and resources.

The Cost of Nx GEN SEQUENCING for Megaloencephalic Leukoencephalopathy with Subcortical Cysts

At DNA Labs India, we understand that cost can be a barrier to accessing genetic testing. That's why we offer Nx GEN SEQUENCING for Megaloencephalic Leukoencephalopathy with Subcortical Cysts at an affordable price of INR 23400.

This price includes the cost of the test itself, as well as genetic counseling and support from our team of experts. We also offer flexible payment options to help make testing more accessible.

Why Choose DNA Labs India for Nx GEN SEQUENCING?

At DNA Labs India, we are committed to providing high-quality genetic testing services at an affordable price. Our team of genetic experts has years of experience in diagnosing rare genetic disorders like Megaloencephalic Leukoencephalopathy with Subcortical Cysts, and we use the latest technology to provide accurate and reliable results.

In addition to our expertise and affordable pricing, we also offer personalized genetic counseling and support to help patients and their families navigate the testing process and understand their results.

If you or a loved one is experiencing symptoms of Megaloencephalic Leukoencephalopathy with Subcortical Cysts, contact DNA Labs India today to learn more about Nx GEN SEQUENCING and how we can help.

Megaloencephalic Leukoencephalopathy with Subcortical cysts (MLC) is characterized by early-onset macrocephaly, often in combination with mild gross motor developmental delay and seizures; gradual onset of ataxia, spasticity and sometimes extrapyramidal findings along with late onset of mild mental deterioration. MLC type 1 which accounts for 75% of cases is due to mutations in the MLC1 gene. The gene MLC1 codes for protein found in astroglial cells. Mutations in the HEPACAM gene cause MLC types 2A and 2B, together which account for 20% of all cases. The gene HEPACAM codes for a protein called GlialCAM which primarily functions in the brain, particularly in glial cells.