BCKDHA Gene Maple Syrup Urine Disease Type 1A NGS Genetic DNA Test
The BCKDHA Gene Maple Syrup Urine Disease Type 1A NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify mutations in the BCKDHA gene, which are responsible for Maple Syrup Urine Disease (MSUD) Type 1A. This condition is a rare metabolic disorder that affects how the body processes certain amino acids. Early detection through this test is crucial for effective management and treatment, allowing individuals and families to make informed health decisions.
What the Test Measures
This genetic test specifically measures mutations in the BCKDHA gene, which encodes an enzyme that plays a vital role in the metabolism of branched-chain amino acids. By analyzing the DNA through Next Generation Sequencing (NGS) technology, the test can detect any abnormalities that may lead to MSUD.
Who Should Consider This Test
This test is recommended for individuals who:
- Exhibit symptoms of metabolic disorders, such as poor feeding, vomiting, and lethargy.
- Have a family history of Maple Syrup Urine Disease or other metabolic disorders.
- Are planning to conceive and wish to understand their genetic risks.
Benefits of Taking the Test
- Early diagnosis can lead to timely intervention and management of the disorder.
- Provides valuable information for family planning and genetic counseling.
- Helps in understanding the risk of passing the condition to future generations.
Understanding Your Results
Once the test is complete, results will be available within 3 to 4 weeks. A healthcare professional will guide you through the results, explaining any detected mutations and their implications for health and treatment options.
Test Pricing
| Price Type | Amount (NGN) |
|---|---|
| Discount Price | 400,000 NGN |
| Regular Price | 560,000 NGN |
Book the Test
To ensure your health and that of your family, book the BCKDHA Gene Maple Syrup Urine Disease Type 1A NGS Genetic DNA Test today. Contact us via phone or WhatsApp at +2348077798758 to schedule your appointment.
Pre-Test Instructions: A clinical history of the patient is required, along with a genetic counseling session to draw a pedigree chart of family members affected by Maple Syrup Urine Disease Type 1A. Please ensure you follow these guidelines to facilitate accurate testing.
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
Specialty: General Physician | Department: Genetics | Method: NGS Technology | Disease Type: Metabolic Disorders
