UPB1 Gene Betaureidopropionase Deficiency NGS Genetic DNA Test
Introduction
The UPB1 Gene Betaureidopropionase Deficiency NGS Genetic DNA Test is a specialized diagnostic tool designed to detect mutations in the UPB1 gene, which can lead to betaureidopropionase deficiency. This condition is characterized by a range of symptoms, including dysmorphology, which can significantly impact a patient’s health and quality of life. Understanding one’s genetic makeup is crucial for making informed healthcare decisions, particularly in pediatrics.
What the Test Measures
This test utilizes Next Generation Sequencing (NGS) technology to analyze the UPB1 gene for specific mutations. By identifying these genetic variations, healthcare providers can better understand the potential for betaureidopropionase deficiency in patients.
Who Should Consider This Test
Individuals who may benefit from the UPB1 Gene Betaureidopropionase Deficiency NGS Genetic DNA Test include:
- Patients exhibiting symptoms of dysmorphology.
- Individuals with a family history of genetic disorders related to the UPB1 gene.
- Patients requiring genetic counseling for informed decision-making regarding their health.
Benefits of Taking the Test
- Early detection of genetic disorders.
- Informed healthcare decisions based on genetic risks.
- Access to tailored treatment options and preventive measures.
- Enhanced understanding of family health history.
Understanding Your Results
Results from the UPB1 Gene Betaureidopropionase Deficiency NGS Genetic DNA Test will indicate whether any mutations were detected. A genetic counselor will assist in interpreting the results, providing guidance on the implications for the patient and their family.
Test Pricing
| Discount Price | Regular Price |
|---|---|
| 400,000 NGN | 560,000 NGN |
Booking Your Test
To ensure accurate results, please provide a clinical history prior to testing. A genetic counseling session is recommended to create a pedigree chart of family members affected by UPB1 gene mutations.
For inquiries or to book the UPB1 Gene Betaureidopropionase Deficiency NGS Genetic DNA Test, please call or WhatsApp us at +2348077798758.
Additional Information
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood or Extracted DNA or One Drop Blood on FTA Card
Pre-Test Instructions: Clinical History of the Patient and Genetic Counseling Session.
