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MMACHC Gene Methylmalonic Aciduria CblC Type Genetic Test Cost

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

-21%

The MMACHC gene methylmalonic aciduria (cobalamin deficiency) cblC type genetic test is a specialized diagnostic tool used to identify mutations in the MMACHC gene, which are responsible for causing methylmalonic aciduria cblC type. This condition is an inherited metabolic disorder characterized by the body’s inability to process certain fats and proteins properly, leading to a buildup of toxic substances like methylmalonic acid in the body. Symptoms can include developmental delay, feeding difficulties, lethargy, and failure to thrive, among others. Early detection through genetic testing can be crucial in managing symptoms and preventing serious complications.

The test is conducted at DNA Labs UAE, a leading facility in genetic testing and analysis. The cost of the test is 4400 AED, reflecting the sophisticated technology and expertise required to accurately identify mutations in the MMACHC gene. By opting for this test at DNA Labs UAE, patients can expect comprehensive support, from initial consultation through to result interpretation and advice on management or treatment options. This test is a vital resource for families with a history of the condition or for individuals showing symptoms of methylmalonic aciduria cblC type, offering a pathway to better understanding and managing this genetic disorder.

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MMACHC Gene Methylmalonic aciduria CblC type Genetic Test

Genetic testing is an important tool in diagnosing and understanding various genetic disorders. At DNA Labs UAE, we offer the MMACHC Gene Methylmalonic aciduria CblC type Genetic Test for individuals who may be at risk for this rare inherited disorder.

Test Details

The MMACHC gene is responsible for producing a protein that plays a crucial role in the breakdown of certain amino acids and fatty acids in the body. Mutations in this gene can lead to a rare inherited disorder called methylmalonic aciduria CblC type. This condition is characterized by the inability of the body to properly process vitamin B12, leading to a buildup of toxic substances in the body.

Methylmalonic aciduria CblC type can cause a wide range of symptoms, including developmental delays, intellectual disability, neurological problems, and organ damage. It is important to diagnose this condition early in order to provide appropriate treatment and support.

Test Components

  • Test Name: MMACHC Gene Methylmalonic aciduria CblC type Genetic Test
  • 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: Metabolic Disorders
  • Doctor: General Physician
  • Test Department: Genetics

Pre Test Information

Before undergoing the MMACHC Gene Methylmalonic aciduria CblC type 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 with Methylmalonic aciduria CblC type. This information will help in the accurate interpretation of the test results and provide valuable insights for future family planning.

Method: NGS Technology

Next-Generation Sequencing (NGS) genetic testing is a cutting-edge technique used to analyze multiple genes simultaneously. In the case of methylmalonic aciduria CblC type, NGS genetic testing can be used to identify mutations in the MMACHC gene that may be responsible for the disorder. This type of genetic testing offers a comprehensive and accurate analysis of the patient’s genetic makeup.

Benefits of MMACHC Gene Methylmalonic aciduria CblC type Genetic Test

  • Diagnosis: The MMACHC Gene Methylmalonic aciduria CblC type Genetic Test can aid in the diagnosis of this rare inherited disorder.
  • Genetic Counseling: The test results can provide valuable information for genetic counseling and family planning.
  • Treatment Approaches: The test results can help in the development of targeted treatment approaches for individuals with methylmalonic aciduria CblC type.

Conclusion

The MMACHC Gene Methylmalonic aciduria CblC type Genetic Test offered at DNA Labs UAE is a valuable tool in diagnosing and understanding this rare inherited disorder. With the use of NGS technology, we can accurately analyze the patient’s genetic makeup and provide important insights for genetic counseling and family planning. Early diagnosis and appropriate treatment can greatly improve the quality of life for individuals with methylmalonic aciduria CblC type.

Test Name MMACHC Gene Methylmalonic aciduria CblC type Genetic Test
Components
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 Metabolic Disorders
Doctor General Physician
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for MMACHC Gene Methylmalonic aciduria CblC type NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Methylmalonic aciduria CblC type
Test Details

The MMACHC gene is responsible for producing a protein that plays a crucial role in the breakdown of certain amino acids and fatty acids in the body. Mutations in this gene can lead to a rare inherited disorder called methylmalonic aciduria CblC type.

Methylmalonic aciduria CblC type is characterized by the inability of the body to properly process vitamin B12, leading to a buildup of toxic substances in the body. This condition can cause a wide range of symptoms, including developmental delays, intellectual disability, neurological problems, and organ damage.

NGS (Next-Generation Sequencing) genetic testing is a technique used to analyze multiple genes simultaneously to identify any mutations or variations that may be present. In the case of methylmalonic aciduria CblC type, NGS genetic testing can be used to identify mutations in the MMACHC gene that may be responsible for the disorder.

This type of genetic testing can help in the diagnosis of methylmalonic aciduria CblC type, as well as provide valuable information for genetic counseling and family planning. It can also aid in the development of targeted treatment approaches for individuals with this condition.

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