DBT Gene Maple syrup urine disease type 2 Genetic Test
At DNA Labs UAE, we offer the DBT Gene Maple syrup urine disease type 2 Genetic Test. This test helps in diagnosing and managing Maple Syrup Urine Disease Type 2 (MSUD), a genetic disorder associated with the DBT gene.
Test Details
Test Name: DBT Gene Maple syrup urine disease type 2 Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
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 DBT Gene Maple syrup urine disease type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Maple syrup urine disease type 2.
About Maple Syrup Urine Disease Type 2
Maple Syrup Urine Disease Type 2 (MSUD) is an autosomal recessive disorder that affects the metabolism of branched-chain amino acids, including leucine, isoleucine, and valine. It is caused by mutations in the DBT gene (Dihydrolipoamide Branched Chain Transacylase E2).
NGS Technology and Genetic Testing
NGS (Next-Generation Sequencing) is a high-throughput DNA sequencing technology that allows for the simultaneous sequencing of multiple genes or the entire genome. In the context of genetic testing for MSUD, NGS can be used to analyze the DBT gene for any potential disease-causing mutations or variants.
Importance of Genetic Testing
A genetic test for DBT gene mutations using NGS can help identify individuals who are carriers of MSUD or those who have inherited the disease-causing mutations. This information is crucial for genetic counseling, family planning, and management of the condition.
It’s important to note that genetic testing should always be conducted and interpreted by qualified healthcare professionals, such as geneticists or genetic counselors, who can provide appropriate guidance and support based on the test results.
Test Name | DBT Gene Maple syrup urine disease type 2 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 DBT Gene Maple syrup urine disease type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Maple syrup urine disease type 2 |
Test Details |
DBT gene (Dihydrolipoamide Branched Chain Transacylase E2) is associated with a genetic disorder called Maple Syrup Urine Disease Type 2 (MSUD). MSUD is an autosomal recessive disorder that affects the metabolism of branched-chain amino acids (leucine, isoleucine, and valine). NGS (Next-Generation Sequencing) is a high-throughput DNA sequencing technology that allows for the simultaneous sequencing of multiple genes or the entire genome. In the context of genetic testing for MSUD, NGS can be used to analyze the DBT gene for any potential disease-causing mutations or variants. A genetic test for DBT gene mutations using NGS can help identify individuals who are carriers of MSUD or those who have inherited the disease-causing mutations. This information can be crucial for genetic counseling, family planning, and management of the condition. It’s important to note that genetic testing should always be conducted and interpreted by qualified healthcare professionals, such as geneticists or genetic counselors, who can provide appropriate guidance and support based on the test results. |