DLD Gene Maple Syrup Urine Disease Type 3 NGS Genetic DNA Test
Introduction to the Test
The DLD Gene Maple Syrup Urine Disease Type 3 NGS Genetic DNA Test is an advanced diagnostic tool designed to identify genetic mutations responsible for Maple Syrup Urine Disease (MSUD) type 3. This condition is a rare metabolic disorder that affects the body’s ability to break down certain amino acids, leading to serious health complications if left untreated. Early diagnosis through genetic testing is crucial for effective management and treatment.
What the Test Measures
This test utilizes Next Generation Sequencing (NGS) technology to analyze the DLD gene, which is responsible for encoding the enzyme necessary for amino acid metabolism. By detecting mutations in this gene, the test can confirm the presence of MSUD type 3.
Who Should Consider This Test
Individuals who may benefit from the DLD Gene Maple Syrup Urine Disease Type 3 NGS Genetic DNA Test include:
- Newborns showing symptoms of metabolic disorders.
- Individuals with a family history of Maple Syrup Urine Disease.
- Patients with unexplained neurological symptoms or developmental delays.
Benefits of Taking the Test
Taking the DLD Gene Maple Syrup Urine Disease Type 3 NGS Genetic DNA Test offers numerous benefits:
- Early detection of MSUD type 3 can significantly improve treatment outcomes.
- Allows for informed family planning through genetic counseling.
- Provides peace of mind to families with a history of metabolic disorders.
Understanding Your Results
Results from the DLD Gene Maple Syrup Urine Disease Type 3 NGS Genetic DNA Test will indicate whether any mutations were detected in the DLD gene. A positive result confirms the presence of the disorder, while a negative result suggests that the individual is not affected. It is essential to discuss your results with a healthcare professional to understand the implications fully.
Test Details and Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
DLD Gene Maple Syrup Urine Disease Type 3 NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Booking Information
We have branches across Kenya, including major cities like Nairobi, Mombasa, and Kisumu. Our team is ready to assist you in booking the DLD Gene Maple Syrup Urine Disease Type 3 NGS Genetic DNA Test. For more information or to schedule your test, please call or WhatsApp us at +254711564616.
Sample Collection and Instructions
Sample type: Blood or Extracted DNA or One drop Blood on FTA Card. Please ensure to provide a clinical history and consider attending a genetic counseling session to draw a pedigree chart of family members affected with Maple Syrup Urine Disease type 3.
Turnaround time for results is approximately 3 to 4 weeks.