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DNM1L Gene Encephalopathy lethal due to defective mitochondrial peroxisomal fission Genetic Test

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The DNM1L gene encephalopathy, lethal due to defective mitochondrial and peroxisomal fission, is a rare genetic disorder characterized by severe brain dysfunction (encephalopathy) that is fatal. The condition stems from mutations in the DNM1L gene, which plays a crucial role in the division (fission) of mitochondria and peroxisomes. These organelles are vital for energy production and the breakdown of fatty acids, respectively. Impaired fission leads to cellular dysfunction and affects brain development and function, among other systemic issues.

To diagnose this condition, genetic testing is essential. At DNA Labs UAE, a specific test targeting the DNM1L gene can be conducted. This test is pivotal for confirming the diagnosis, understanding the disease’s progression, and offering insights into potential management strategies for affected families. The cost of the test is 4400 AED. Early diagnosis through this genetic test can be critical in managing symptoms and improving the quality of life, although options may be limited due to the condition’s severity.

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DNM1L Gene Encephalopathy Lethal Due to Defective Mitochondrial Peroxisomal Fission Genetic Test

Are you concerned about a rare form of encephalopathy called lethal encephalopathy with defective mitochondrial peroxisomal fission (LEMPF)? DNA Labs UAE offers a comprehensive genetic test to diagnose this condition accurately.

Test Name: DNM1L Gene Encephalopathy Lethal Due to Defective Mitochondrial Peroxisomal Fission Genetic Test

  • Components: DNM1L gene analysis
  • Price: 4400.0 AED
  • Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
  • Report Delivery: 3 to 4 Weeks
  • Method: NGS Technology
  • Test Type: Neurological Disorders
  • Doctor: Neurologist
  • Test Department: Genetics

Pre Test Information

If you or your loved one is going for the DNM1L Gene Encephalopathy Lethal Due to Defective Mitochondrial Peroxisomal Fission Genetic Test, it is essential to provide the clinical history of the patient. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected by this condition.

Test Details

The DNM1L gene encodes for the dynamin-related protein 1 (DRP1), which plays a crucial role in mitochondrial fission. Mutations in the DNM1L gene have been linked to LEMPF. Our NGS genetic testing utilizes next-generation sequencing technology to analyze the DNA and identify any variations or mutations in the DNM1L gene. This comprehensive analysis allows for an accurate diagnosis of LEMPF and other conditions associated with DNM1L mutations.

Early diagnosis of LEMPF is crucial for guiding appropriate treatment and management strategies. Although there is currently no cure for LEMPF, supportive care, symptom management medications, and genetic counseling are available for affected individuals and their families.

Don’t wait, take the necessary steps towards understanding and managing LEMPF. Contact DNA Labs UAE today to schedule your DNM1L Gene Encephalopathy Lethal Due to Defective Mitochondrial Peroxisomal Fission Genetic Test.

Test Name DNM1L Gene Encephalopathy lethal due to defective mitochondrial peroxisomal fission Genetic Test
Components
Price 4400.0 AED
Sample Condition Blood or Extracted DNA or One drop Blood on FTA Card o
Report Delivery 3 to 4 Weeks
Method NGS Technology
Test type Neurological Disorders
Doctor Neurologist
Test Department: Genetics
Pre Test 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
Test Details

DNM1L gene encodes for the dynamin-related protein 1 (DRP1), which plays a crucial role in mitochondrial fission. Mutations in the DNM1L gene have been linked to a rare form of encephalopathy called lethal encephalopathy with a defective mitochondrial peroxisomal fission (LEMPF).

NGS genetic testing can be used to identify mutations in the DNM1L gene. This type of testing uses next-generation sequencing technology to analyze a person’s DNA and identify any variations or mutations that may be present. NGS genetic testing can provide a comprehensive analysis of the entire DNM1L gene, allowing for accurate diagnosis of LEMPF and other conditions associated with DNM1L mutations.

Early diagnosis of LEMPF is important as it can help guide appropriate treatment and management strategies. There is currently no cure for LEMPF, but treatment may include supportive care, medications to manage symptoms, and genetic counseling for affected individuals and their families.