BCKDHB Gene Maple Syrup Urine Disease Type 1B NGS Genetic DNA Test
Introduction
The BCKDHB Gene Maple Syrup Urine Disease Type 1B NGS Genetic DNA Test is a pivotal diagnostic tool for identifying Maple Syrup Urine Disease (MSUD), a rare but serious metabolic disorder. MSUD is characterized by the inability to properly break down certain amino acids, leading to toxic buildup in the body. This test employs Next-Generation Sequencing (NGS) technology to analyze the BCKDHB gene, ensuring accurate detection of genetic mutations associated with MSUD.
What the Test Measures
This test specifically measures alterations in the BCKDHB gene, which encodes a vital enzyme necessary for the metabolism of branched-chain amino acids. By identifying these mutations, healthcare providers can confirm or rule out a diagnosis of Maple Syrup Urine Disease.
Who Should Consider This Test
Individuals who may benefit from this test include:
- Newborns exhibiting symptoms of metabolic disorders.
- Individuals with a family history of MSUD.
- Patients showing signs of unexplained neurological issues.
Benefits of Taking the Test
Taking the BCKDHB Gene Maple Syrup Urine Disease Type 1B NGS Genetic DNA Test offers several advantages:
- Early diagnosis of MSUD, which is crucial for effective management.
- Informed family planning and genetic counseling based on test results.
- Access to tailored treatment options and dietary management strategies.
Understanding Your Results
Results from the BCKDHB Gene test will indicate whether mutations are present in the BCKDHB gene. A positive result confirms the diagnosis of Maple Syrup Urine Disease, while a negative result suggests that the disorder is unlikely. It is essential to discuss the results with a healthcare provider for comprehensive understanding and guidance.
Test Details and Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| BCKDHB Gene Maple Syrup Urine Disease Type 1B NGS Genetic DNA Test | 400000 NGN | 560000 NGN |
How to Prepare for the Test
Before taking the BCKDHB Gene test, it is recommended to have a clinical history evaluation and undergo a genetic counseling session. This helps in creating a pedigree chart of family members affected by Maple Syrup Urine Disease Type 1B.
Book Your Test Today!
Don’t wait for symptoms to appear. Early diagnosis can change lives. Contact us at +2348077798758 to book the BCKDHB Gene Maple Syrup Urine Disease Type 1B NGS Genetic DNA Test today!
