BCKDHA Gene Maple Syrup Urine Disease Type 1a Genetic Test
Introduction
The BCKDHA gene is associated with maple syrup urine disease type 1a (MSUD1A), a rare inherited disorder that affects the body’s ability to break down certain amino acids. This genetic test offered by DNA Labs UAE analyzes the BCKDHA gene using NGS (Next-Generation Sequencing) technology.
Symptoms and Diagnosis
MSUD1A is characterized by a sweet-smelling urine odor, poor feeding, vomiting, developmental delay, and neurological problems. If you suspect you or someone you know may have MSUD1A, a healthcare professional can order a genetic test to analyze the BCKDHA gene using NGS technology. The results of the test can help confirm a diagnosis and guide treatment options for managing the condition.
Test Details
- Test Name: BCKDHA Gene Maple Syrup Urine Disease Type 1a Genetic Test
- Components: Blood or Extracted DNA or One drop Blood on FTA Card
- Price: 4400.0 AED
- 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 BCKDHA Gene Maple Syrup Urine Disease Type 1a NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Maple Syrup Urine Disease Type 1a.
Cost
The cost of the BCKDHA Gene Maple Syrup Urine Disease Type 1a Genetic Test is 4400.0 AED.
Conclusion
NGS genetic testing of the BCKDHA gene can provide valuable information about an individual’s genetic makeup and help diagnose or predict the risk of developing MSUD1A. It is important to consult with a genetic counselor or medical professional to fully understand the implications and limitations of genetic testing.
Test Name | BCKDHA Gene Maple syrup urine disease type 1a 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 BCKDHA Gene Maple syrup urine disease type 1a NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Maple syrup urine disease type 1a |
Test Details |
The BCKDHA gene is associated with maple syrup urine disease type 1a (MSUD1A), a rare inherited disorder that affects the body’s ability to break down certain amino acids. MSUD1A is characterized by a sweet-smelling urine odor, poor feeding, vomiting, developmental delay, and neurological problems. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze a person’s DNA sequence. It can identify mutations or variations in genes, including the BCKDHA gene, that may be associated with certain genetic disorders like MSUD1A. This type of testing can provide valuable information about an individual’s genetic makeup and help diagnose or predict the risk of developing certain conditions. If you suspect you or someone you know may have MSUD1A, a healthcare professional can order a genetic test to analyze the BCKDHA gene using NGS technology. The results of the test can help confirm a diagnosis and guide treatment options for managing the condition. It is important to consult with a genetic counselor or medical professional to fully understand the implications and limitations of genetic testing. |