ADK Gene Hypermethioninemia due to Adenosine Kinase Deficiency Genetic Test
Are you or a family member suspected of having ADK Gene Hypermethioninemia due to adenosine kinase deficiency? DNA Labs UAE offers a comprehensive genetic test to confirm the diagnosis and provide appropriate management strategies.
Test Details
ADK gene hypermethioninemia is a rare genetic disorder caused by mutations in the ADK gene. This gene is responsible for producing an enzyme called adenosine kinase, which plays a crucial role in the metabolism of adenosine, a molecule involved in various cellular processes.
When mutations occur in the ADK gene, it leads to a deficiency of adenosine kinase. This deficiency causes an accumulation of adenosine and its metabolite, methionine, in the body. The excess methionine in the blood and urine results in a condition called hypermethioninemia.
To confirm a diagnosis of ADK gene hypermethioninemia, we offer Next-Generation Sequencing (NGS) genetic testing. NGS technology allows for the simultaneous analysis of multiple genes, including the ADK gene, to detect any variations or mutations.
Test Components and Price
- Test Name: ADK Gene Hypermethioninemia due to adenosine kinase deficiency Genetic Test
- Components: NGS Technology
- Price: 4400.0 AED
- Sample Condition: Blood
- Report Delivery: 3 to 4 Weeks
- Test Type: Dysmorphology
- Doctor: Pediatrics
- Test Department: Genetics
Pre Test Information
Before undergoing the ADK Gene Hypermethioninemia genetic test, it is important to provide the clinical history of the patient. Additionally, a Genetic Counselling session will be conducted to draw a pedigree chart of family members affected by ADK Gene Hypermethioninemia.
Treatment and Management
If diagnosed with ADK Gene Hypermethioninemia, early intervention and management are crucial. Treatment may involve dietary modifications, such as following a low-methionine diet, and the use of medications to help reduce methionine levels in the body.
It is essential to consult with a healthcare professional or genetic counselor to determine if NGS genetic testing is appropriate for you or your family members. They can provide further information on the potential benefits and limitations of the test.
Don’t wait, get the answers you need with the ADK Gene Hypermethioninemia Genetic Test at DNA Labs UAE.
| Test Name | ADK Gene Hypermethioninemia due to adenosine kinase deficiency Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood |
| Report Delivery | 3 to 4 Weeks |
| Method | NGS Technology |
| Test type | Dysmorphology |
| Doctor | Pediatrics |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for ADK Gene Hypermethioninemia due to adenosine kinase deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ADK Gene Hypermethioninemia due to adenosine kinase deficiency NGS Genetic DNA Test gene ADK |
| Test Details |
ADK gene hypermethioninemia is a rare genetic disorder caused by mutations in the ADK gene. This gene provides instructions for producing an enzyme called adenosine kinase, which is involved in the metabolism of adenosine, a molecule that plays a role in various cellular processes. Mutations in the ADK gene result in a deficiency of adenosine kinase, leading to the accumulation of adenosine and its metabolite, methionine, in the body. This buildup can cause a condition called hypermethioninemia, characterized by elevated levels of methionine in the blood and urine. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze an individual’s DNA sequence and identify genetic mutations or variations. In the case of ADK gene hypermethioninemia, NGS genetic testing can be used to detect mutations in the ADK gene, confirming a diagnosis of the condition. This genetic test involves obtaining a sample of the individual’s DNA, typically through a blood or saliva sample. The DNA is then sequenced using NGS technology, which allows for the simultaneous analysis of multiple genes. The sequencing data is compared to a reference genome to identify any variations or mutations in the ADK gene. NGS genetic testing for ADK gene hypermethioninemia can help provide a definitive diagnosis for individuals suspected of having the condition. It can also be used for carrier testing in individuals with a family history of the disorder or for prenatal testing in families at risk of having a child with the condition. Early diagnosis through NGS genetic testing can enable appropriate management and treatment strategies for individuals with ADK gene hypermethioninemia. Treatment may involve dietary modifications, such as a low-methionine diet, and the use of certain medications to help reduce methionine levels in the body. It is important to consult with a healthcare professional or genetic counselor to determine if NGS genetic testing is appropriate and to understand the potential benefits and limitations of the test. |
