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. |
