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 an advanced diagnostic tool designed to identify mutations in the BCKDHB gene. This gene plays a critical role in the metabolism of branched-chain amino acids, and its dysfunction can lead to serious metabolic disorders. Early diagnosis through this test is vital for effective management and treatment.
What the Test Measures
This genetic test detects specific mutations in the BCKDHB gene, which are responsible for Maple Syrup Urine Disease (MSUD) Type 1b. It utilizes Next Generation Sequencing (NGS) technology to provide precise results, allowing for a comprehensive understanding of an individual’s genetic predisposition to this disorder.
Who Should Consider This Test?
Individuals with a family history of Maple Syrup Urine Disease or those presenting symptoms such as:
- Unusual sweet-smelling urine
- Neurological symptoms
- Developmental delays
are encouraged to consider this test. Additionally, newborns who fail the initial screening for metabolic disorders may also require this genetic testing.
Benefits of Taking the Test
- Early detection of metabolic disorders, allowing for timely intervention.
- Informed family planning and genetic counseling for affected families.
- Improved management of dietary and medical needs for individuals diagnosed with MSUD.
Understanding Your Results
Results from the BCKDHB Gene Maple Syrup Urine Disease Type 1b NGS Genetic DNA Test will indicate whether any mutations were detected. A genetic counselor can help interpret these results, providing guidance on the implications for health and potential treatment options.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| BCKDHB Gene Maple Syrup Urine Disease Type 1b NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Sample Collection and Turnaround Time
The test can be conducted using blood or extracted DNA, or even a single drop of blood on an FTA card. The turnaround time for results is approximately 3 to 4 weeks.
Book Your Test Today!
We have branches across Kenya, including Nairobi, Mombasa, and Kisumu, and offer home sample collection services. To book the BCKDHB Gene Maple Syrup Urine Disease Type 1b NGS Genetic DNA Test, please call or WhatsApp us at +254711564616.
