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AMPD1 Gene Myopathy Due to Myoadenylate Deaminase Deficiency Genetic Test Cost

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

-21%

The AMPD1 gene is responsible for encoding an enzyme called myoadenylate deaminase, which plays a crucial role in muscle energy metabolism. A deficiency in this enzyme, due to mutations in the AMPD1 gene, leads to a condition known as myoadenylate deaminase deficiency (MADD). This condition can cause a range of symptoms, including muscle pain, cramps, and exercise intolerance.

To diagnose this genetic condition, a specific test is available that analyzes the AMPD1 gene for mutations known to cause myoadenylate deaminase deficiency. This test is particularly valuable for individuals experiencing unexplained muscle symptoms, as it can confirm a diagnosis of MADD, allowing for appropriate management and treatment strategies to be implemented.

In the United Arab Emirates, DNA Labs UAE offers this genetic test for the detection of AMPD1 gene mutations associated with myoadenylate deaminase deficiency. The test cost is 4400 AED, which reflects the specialized nature of the genetic analysis and the comprehensive insight it provides into the individual’s condition. By opting for this test at DNA Labs UAE, patients and healthcare providers can gain crucial information for the effective management of symptoms associated with myoadenylate deaminase deficiency.

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AMPD1 Gene Myopathy due to myoadenylate deaminase deficiency Genetic Test

At DNA Labs UAE, we offer the AMPD1 Gene Myopathy due to myoadenylate deaminase deficiency Genetic Test at a cost of AED 4400.0. This test is used to diagnose and identify the presence of mutations in the AMPD1 gene, which is responsible for myoadenylate deaminase deficiency.

Test Components and Price

  • Test Name: AMPD1 Gene Myopathy due to myoadenylate deaminase deficiency Genetic Test
  • Price: AED 4400.0

Sample Condition

The test can be conducted using either blood, extracted DNA, or one drop of blood on an FTA card.

Report Delivery

The test results will be delivered within 3 to 4 weeks.

Method

The AMPD1 Gene Myopathy due to myoadenylate deaminase deficiency Genetic Test utilizes NGS (Next-Generation Sequencing) technology.

Test Type

This test is classified under the category of Metabolic Disorders.

Doctor

The test can be requested by a General Physician.

Test Department

The AMPD1 Gene Myopathy due to myoadenylate deaminase deficiency Genetic Test falls under the Genetics department.

Pre Test Information

Prior to undergoing the AMPD1 Gene Myopathy due to myoadenylate deaminase deficiency Genetic Test, it is recommended to provide the clinical history of the patient. Additionally, a Genetic Counselling session may be conducted to draw a pedigree chart of family members affected by Myopathy due to myoadenylate deaminase deficiency.

Test Details

AMPD1 gene myopathy is a rare genetic disorder caused by mutations in the AMPD1 gene. This gene is responsible for producing an enzyme called myoadenylate deaminase, which plays a vital role in energy metabolism in skeletal muscles. A deficiency in myoadenylate deaminase results in the accumulation of adenosine monophosphate (AMP) in the muscles. This accumulation can impair muscle cell function, leading to muscle weakness, fatigue, and exercise intolerance.

NGS (Next-Generation Sequencing) genetic testing is a powerful tool used to identify genetic mutations and variations in an individual’s DNA. It allows for the simultaneous analysis of multiple genes, including the AMPD1 gene, in a single test. NGS can detect specific mutations or variations in the AMPD1 gene that may be responsible for myopathy in an individual.

The process of NGS genetic testing involves obtaining a DNA sample, typically through a blood sample or a saliva swab. The DNA is then sequenced using advanced technology to identify any mutations or variations in the AMPD1 gene. The results of the test can help confirm a diagnosis of AMPD1 gene myopathy and provide valuable information for genetic counseling and management of the condition.

It is important to note that genetic testing for AMPD1 gene myopathy may not be widely available and may require specialized testing facilities or genetic laboratories. Therefore, it is recommended to consult with a healthcare professional or genetic counselor for more information on the availability and appropriateness of NGS genetic testing for this condition.

Test Name AMPD1 Gene Myopathy due to myoadenylate deaminase deficiency 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 AMPD1 Gene Myopathy due to myoadenylate deaminase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Myopathy due to myoadenylate deaminase deficiency
Test Details

AMPD1 gene myopathy is a rare genetic disorder caused by mutations in the AMPD1 gene. This gene provides instructions for producing an enzyme called myoadenylate deaminase, which plays a crucial role in energy metabolism in skeletal muscles.

A deficiency in myoadenylate deaminase leads to the accumulation of a molecule called adenosine monophosphate (AMP) in the muscles. This accumulation can impair the normal function of muscle cells, leading to muscle weakness, fatigue, and exercise intolerance.

NGS (Next-Generation Sequencing) genetic testing is a powerful tool used to identify genetic mutations and variations in an individual’s DNA. It allows for the simultaneous analysis of multiple genes, including the AMPD1 gene, in a single test. NGS can detect specific mutations or variations in the AMPD1 gene that may be responsible for myopathy in an individual.

NGS genetic testing involves obtaining a DNA sample, typically through a blood sample or a saliva swab. The DNA is then sequenced using advanced technology to identify any mutations or variations in the AMPD1 gene. The results of the test can help confirm a diagnosis of AMPD1 gene myopathy and provide valuable information for genetic counseling and management of the condition.

It is important to note that genetic testing for AMPD1 gene myopathy may not be widely available and may require specialized testing facilities or genetic laboratories. A healthcare professional or genetic counselor can provide more information on the availability and appropriateness of NGS genetic testing for this condition.

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