AMPD3 Gene AMP Deaminase Deficiency Erythrocytic Genetic Test
At DNA Labs UAE, we offer the AMPD3 Gene AMP Deaminase Deficiency Erythrocytic Genetic Test. This test is designed to detect and diagnose AMP deaminase deficiency, a rare genetic disorder. Below, you will find detailed information about the test, including its components, price, sample condition, report delivery time, method, test type, and more.
Test Components
- AMPD3 Gene AMP Deaminase Deficiency Erythrocytic Genetic Test
Price
The cost of the AMPD3 Gene AMP Deaminase Deficiency Erythrocytic Genetic Test is 4400.0 AED.
Sample Condition
The test can be performed using blood or extracted DNA. Alternatively, a single drop of blood can be collected on an FTA card.
Report Delivery
The test results will be delivered within 3 to 4 weeks.
Method
The AMPD3 Gene AMP Deaminase Deficiency Erythrocytic Genetic Test utilizes NGS (Next-Generation Sequencing) technology.
Test Type
The AMPD3 Gene AMP Deaminase Deficiency Erythrocytic Genetic Test is classified as a metabolic disorders test.
Doctor
The test can be requested by a general physician.
Test Department
The AMPD3 Gene AMP Deaminase Deficiency Erythrocytic Genetic Test is conducted in our Genetics department.
Pre Test Information
Prior to undergoing the AMPD3 Gene AMP Deaminase Deficiency Erythrocytic Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to create a pedigree chart of family members affected by AMP deaminase deficiency, erythrocytic.
Test Details
The AMPD3 gene, also known as adenosine monophosphate deaminase 3, is responsible for the production of an enzyme called AMP deaminase. This enzyme plays a crucial role in the breakdown of adenosine monophosphate (AMP) into inosine monophosphate (IMP) and ammonia.
AMP deaminase deficiency is a rare genetic disorder characterized by reduced or absent activity of the AMP deaminase enzyme. Individuals with this deficiency may experience symptoms such as exercise intolerance, muscle pain, cramps, and myoglobinuria (presence of myoglobin in the urine). These symptoms are typically triggered by strenuous exercise or intense physical activity.
NGS genetic testing, also known as next-generation sequencing, is a diagnostic test that analyzes an individual’s DNA to identify genetic variations or mutations. In the case of AMPD3 gene AMP deaminase deficiency, NGS genetic testing can be used to detect specific mutations or variations in the AMPD3 gene associated with this condition.
NGS genetic testing for AMPD3 gene AMP deaminase deficiency can help confirm a diagnosis, especially in individuals with a suspected or confirmed family history of the disorder. It can also be used for carrier testing in individuals who have a family history of the condition and are planning to have children.
Overall, NGS genetic testing for AMPD3 gene AMP deaminase deficiency provides valuable information about an individual’s genetic makeup and can guide treatment and management strategies. It is important to consult with a healthcare professional or genetic counselor to understand the implications of the test results and discuss appropriate follow-up actions.
| Test Name | AMPD3 Gene AMP deaminase deficiency erythrocytic 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 AMPD3 Gene AMP deaminase deficiency, erythrocytic NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with AMP deaminase deficiency, erythrocytic |
| Test Details |
AMPD3 gene, also known as adenosine monophosphate deaminase 3, is responsible for the production of an enzyme called AMP deaminase. This enzyme plays a crucial role in the breakdown of adenosine monophosphate (AMP) into inosine monophosphate (IMP) and ammonia. AMP deaminase deficiency is a rare genetic disorder that results in reduced or absent activity of this enzyme. Individuals with AMP deaminase deficiency may experience symptoms such as exercise intolerance, muscle pain, cramps, and myoglobinuria (the presence of myoglobin in the urine). These symptoms are typically triggered by strenuous exercise or intense physical activity. NGS genetic testing, also known as next-generation sequencing, is a diagnostic test that analyzes an individual’s DNA to identify genetic variations or mutations. In the case of AMPD3 gene AMP deaminase deficiency, NGS genetic testing can be used to detect specific mutations or variations in the AMPD3 gene that are associated with this condition. NGS genetic testing for AMPD3 gene AMP deaminase deficiency can help confirm a diagnosis, especially in individuals with a suspected or confirmed family history of the disorder. It can also be used for carrier testing in individuals who have a family history of the condition and are planning to have children. Overall, NGS genetic testing for AMPD3 gene AMP deaminase deficiency can provide valuable information about an individual’s genetic makeup and help guide treatment and management strategies. It is important to consult with a healthcare professional or genetic counselor to understand the implications of the test results and discuss appropriate follow-up actions. |
