Short Description

NGS genetic DNA test detecets for variant and mutation detection in DNM1L gene for Encephalopathy lethal, due to defective mitochondrial peroxisomal fission

PreTest Information

Clinical History of Patient who is going for DNM1L Gene Encephalopathy lethal, due to defective mitochondrial peroxisomal fission NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with DNM1L Gene Encephalopathy lethal, due to defective mitochondrial peroxisomal fission

Detail Description

DNM1L Gene Encephalopathy Lethal: Symptoms, Diagnosis and NGS Genetic DNA Test Cost

DNM1L gene encephalopathy lethal is a rare genetic disorder caused by a defect in the mitochondrial peroxisomal fission process. The DNM1L gene provides instructions for making a protein that is essential for the proper division of mitochondria and peroxisomes. When this gene is mutated, it can lead to the abnormal fusion of these organelles, resulting in a range of severe neurological symptoms.

Symptoms of DNM1L Gene Encephalopathy Lethal

The symptoms of DNM1L gene encephalopathy lethal can vary widely depending on the severity and location of the mutations. Some of the most common symptoms include:

• Severe developmental delays
• Intellectual disability
• Seizures
• Weak muscle tone (hypotonia)
• Abnormal eye movements
• Difficulty swallowing (dysphagia)
• Respiratory problems

These symptoms typically appear in early infancy or childhood and can worsen over time. In some cases, the condition can be fatal.

Diagnosis of DNM1L Gene Encephalopathy Lethal

Diagnosis of DNM1L gene encephalopathy lethal typically involves a combination of clinical evaluation, genetic testing, and imaging studies. A doctor will first perform a physical exam to assess the patient's neurological function and look for any abnormalities. They may also order imaging studies, such as an MRI or CT scan, to look for structural abnormalities in the brain.

To confirm the diagnosis, genetic testing is necessary. Next-generation sequencing (NGS) genetic testing is the most effective way to identify mutations in the DNM1L gene. This test involves analyzing a patient's DNA to look for specific genetic changes that are known to be associated with DNM1L gene encephalopathy lethal. It is a highly accurate and reliable test that can provide a definitive diagnosis in most cases.

NGS Genetic DNA Test Cost for DNM1L Gene Encephalopathy Lethal

The cost of NGS genetic DNA testing for DNM1L gene encephalopathy lethal can vary depending on the laboratory and location. In India, the cost of this test typically ranges from INR 20,000 to INR 30,000. However, the cost may be covered by insurance in some cases. It is important to check with your healthcare provider or insurance company to determine the exact cost and coverage options.

Conclusion

DNM1L gene encephalopathy lethal is a rare and severe genetic disorder that can cause a range of neurological symptoms. Early diagnosis is essential for effective treatment and management of the condition. NGS genetic DNA testing is the most effective way to confirm a diagnosis of DNM1L gene encephalopathy lethal, and the cost of this test is typically around INR 20,000 to INR 30,000 in India. If you or a loved one is experiencing symptoms of this condition, it is important to speak with a healthcare provider to determine the best course of action.

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The DNM1L gene is associated with a rare condition known as encephalopathy lethal due to defective mitochondrial and peroxisomal fission. This disorder is characterized by severe neurological symptoms and is caused by mutations in the DNM1L gene, which plays a role in mitochondrial and peroxisomal fission, the process by which these organelles divide into smaller units.