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ETHE1 Gene Ethylmalonic encephalopathy Genetic Test

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

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Ethylmalonic Encephalopathy (EE) is a rare genetic disorder characterized by progressive neurological impairment, metabolic abnormalities, and, in many cases, early mortality. The condition is caused by mutations in the ETHE1 gene, which plays a crucial role in the metabolic process. The disorder manifests with a range of symptoms including developmental delay, seizures, chronic diarrhea, and orthostatic acrocyanosis, making early and accurate diagnosis vital for management and treatment planning.

The ETHE1 Gene Ethylmalonic Encephalopathy Genetic Test is a specialized diagnostic tool designed to detect mutations in the ETHE1 gene, confirming the diagnosis of EE. This test is critical for families with a history of the disorder or where EE is suspected based on clinical symptoms. Early diagnosis through genetic testing can facilitate timely intervention and potentially improve outcomes.

Performed at DNA Labs UAE, a leading facility in genetic diagnostics, the test offers a comprehensive analysis of the ETHE1 gene. DNA Labs UAE employs state-of-the-art technology and adheres to stringent quality control measures to ensure the accuracy and reliability of test results. The cost of the ETHE1 Gene Ethylmalonic Encephalopathy Genetic Test is 4400 AED, reflecting the advanced nature of the testing process and the specialized expertise required to interpret the results.

Families and individuals undergoing this test at DNA Labs UAE can expect professional guidance throughout the testing process, from sample collection to result interpretation. The facility’s genetic counselors are available to discuss the implications of test outcomes and support patients in making informed decisions about their health and management options.

Home  Sample collection service available

  • 100% accuaret Test Results
  • Ranked as Most trusted Genetic DNA Lab
  • This test is not intended for medical diagnosis or treatment
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ETHE1 Gene Ethylmalonic Encephalopathy Genetic Test

Cost: AED 4400.0

Introduction

Genetic disorders can have a significant impact on an individual’s health and well-being. One such disorder is Ethylmalonic Encephalopathy, which is caused by mutations in the ETHE1 gene. This blog will provide detailed information about the ETHE1 Gene Ethylmalonic Encephalopathy Genetic Test offered by DNA Labs UAE.

Test Components

  • Price: AED 4400.0
  • 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

Before undergoing the ETHE1 Gene Ethylmalonic Encephalopathy Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected by Ethylmalonic Encephalopathy.

Test Details

The ETHE1 gene is responsible for encoding a protein called ethylmalonic encephalopathy protein 1. This protein plays a crucial role in breaking down certain amino acids and fatty acids in the body. Mutations in the ETHE1 gene can lead to the development of Ethylmalonic Encephalopathy, a rare genetic disorder characterized by neurological and gastrointestinal symptoms.

Some of the common symptoms of Ethylmalonic Encephalopathy include:

  • Developmental delay
  • Seizures
  • Vomiting
  • Diarrhea

NGS genetic testing for ETHE1 mutations can help identify individuals who carry pathogenic variants in this gene. Early diagnosis and management of Ethylmalonic Encephalopathy are crucial in ensuring proper medical care and genetic counseling for affected individuals and their families.

The ETHE1 Gene Ethylmalonic Encephalopathy Genetic Test involves sequencing the entire ETHE1 gene to detect any changes or variations that may be associated with the disorder. The results of this test can provide valuable information for medical management and genetic counseling.

Conclusion

The ETHE1 Gene Ethylmalonic Encephalopathy Genetic Test offered by DNA Labs UAE is a valuable tool in diagnosing and managing Ethylmalonic Encephalopathy. By identifying individuals with pathogenic variants in the ETHE1 gene, early intervention and appropriate medical care can be provided. This test not only benefits the affected individuals but also their families, as it allows for genetic counseling and informed decision-making.

Test Name ETHE1 Gene Ethylmalonic encephalopathy 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 ETHE1 Gene Ethylmalonic encephalopathy NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ETHE1 Gene Ethylmalonic encephalopathy
Test Details

The ETHE1 gene encodes a protein called ethylmalonic encephalopathy protein 1, which is involved in the breakdown of certain amino acids and fatty acids in the body. Mutations in this gene can cause ethylmalonic encephalopathy, a rare genetic disorder characterized by neurological and gastrointestinal symptoms, such as developmental delay, seizures, vomiting, and diarrhea.

NGS genetic testing for ETHE1 mutations can identify individuals who carry pathogenic variants in this gene, allowing for early diagnosis and management of ethylmalonic encephalopathy. This testing involves sequencing the entire ETHE1 gene to detect any changes or variations that may be associated with the disorder. Results of the test can inform medical management and genetic counseling for affected individuals and their families.