PHKG2 Gene Glycogen Storage Disease Type 9C NGS Genetic DNA Test
Introduction to the PHKG2 Gene Test
The PHKG2 Gene Glycogen Storage Disease Type 9C NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to detect mutations in the PHKG2 gene, which are responsible for Glycogen Storage Disease Type 9C (GSD9C). This condition is a rare metabolic disorder that affects the body’s ability to store and utilize glycogen, leading to various health complications. Understanding genetic predispositions through this test is crucial for early diagnosis and effective management.
What the Test Measures
This genetic test utilizes Next-Generation Sequencing (NGS) technology to identify specific mutations in the PHKG2 gene. By analyzing the DNA sample, the test provides insights into the genetic factors that may contribute to the development of metabolic disorders associated with GSD9C.
Who Should Consider This Test?
Individuals who may benefit from the PHKG2 Gene Glycogen Storage Disease Type 9C NGS Genetic DNA Test include:
- Those with a family history of Glycogen Storage Disease Type 9C.
- Patients presenting symptoms such as muscle weakness, low blood sugar, or liver enlargement.
- Individuals undergoing genetic counseling for metabolic disorders.
Benefits of Taking the Test
Taking the PHKG2 Gene test offers several benefits:
- Early diagnosis and intervention for Glycogen Storage Disease Type 9C.
- Informed decision-making regarding treatment options.
- Understanding of genetic risks for family members.
- Access to specialized care and support.
Understanding Your Results
Results from the PHKG2 Gene test can provide clarity on your genetic status concerning GSD9C. It is essential to discuss the findings with a healthcare professional who can guide you through the implications and potential next steps based on your results.
Test Details and Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| PHKG2 Gene Glycogen Storage Disease Type 9C NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Booking the Test
To book the PHKG2 Gene Glycogen Storage Disease Type 9C 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.
Pre-Test Instructions
Before undergoing the test, it is important to have a clinical history of the patient and to attend a genetic counseling session. This session will help in drawing a pedigree chart of family members affected by Glycogen Storage Disease Type 9C, which is crucial for accurate interpretation of the test results.
With a turnaround time of 3 to 4 weeks and the ability to provide samples via blood or extracted DNA, this test is accessible and efficient for patients in Nigeria.
