PQBP1 Gene Renpenning Syndrome NGS Genetic DNA Test
Introduction
The PQBP1 Gene Renpenning Syndrome NGS Genetic DNA Test is a crucial diagnostic tool used to identify mutations in the PQBP1 gene, which are associated with Renpenning syndrome, a rare neurological disorder. Understanding the genetic basis of this condition is vital for effective management and treatment strategies. This test utilizes Next Generation Sequencing (NGS) technology to provide a comprehensive analysis of the genetic material.
What the Test Measures
This genetic test specifically measures the presence of mutations in the PQBP1 gene. These mutations can lead to various neurological symptoms, and identifying them is essential for confirming a diagnosis of Renpenning syndrome.
Who Should Consider This Test
Individuals who may benefit from the PQBP1 Gene Renpenning Syndrome NGS Genetic DNA Test include:
- Patients exhibiting symptoms of neurological disorders such as developmental delays, intellectual disability, and distinctive facial features.
- Family members of affected individuals seeking to understand their genetic risks.
- Individuals with a clinical history suggesting a potential genetic condition.
Benefits of Taking the Test
- Accurate diagnosis of Renpenning syndrome, allowing for tailored treatment plans.
- Informed family planning decisions through understanding genetic risks.
- Enhanced knowledge for healthcare providers regarding patient management.
Understanding Your Results
After the test, results will be provided detailing any identified mutations in the PQBP1 gene. It is important to consult with a healthcare professional or genetic counselor to interpret these results accurately and understand their implications for health and family.
Test Information and Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| PQBP1 Gene Renpenning Syndrome NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
How to Book the Test
To book the PQBP1 Gene Renpenning Syndrome NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with the booking process and provide any additional information you may need.
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
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 PQBP1 Gene Renpenning syndrome.
Specialty: Neurology
Department: Genetics
Method: NGS Technology
Disease Type: Neurological Disorders
