PGK1 Gene Phosphoglycerate Kinase 1 Deficiency NGS Genetic DNA Test
Introduction to the PGK1 Gene Test
The PGK1 Gene Phosphoglycerate Kinase 1 Deficiency NGS Genetic DNA Test is a vital diagnostic tool designed to identify mutations in the PGK1 gene, which plays a crucial role in energy metabolism within cells. Deficiencies in this gene can lead to various neurological disorders, making early detection and understanding of one’s genetic predisposition essential for effective management and treatment.
What the Test Measures
This test utilizes Next Generation Sequencing (NGS) technology to analyze the PGK1 gene for specific mutations. It detects changes in the DNA sequence that may be responsible for phosphoglycerate kinase 1 deficiency, which can lead to significant health issues.
Who Should Consider This Test?
Individuals who should consider the PGK1 Gene test include:
- Those with a family history of PGK1 deficiency.
- Patients exhibiting symptoms of neurological disorders such as muscle weakness, seizures, or developmental delays.
- Individuals with unexplained metabolic issues or neurological symptoms.
Benefits of Taking the Test
Taking the PGK1 Gene test offers several benefits:
- Early detection of genetic disorders, allowing for timely intervention and management.
- Informed family planning decisions based on genetic risks.
- Access to targeted therapies and management strategies for those diagnosed with PGK1 deficiency.
Understanding Your Results
Results from the PGK1 Gene test will provide insights into whether any mutations were detected. A genetic counseling session is recommended to help interpret the results and discuss potential next steps, including family planning and management options.
Test Details and Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
PGK1 Gene Phosphoglycerate Kinase 1 Deficiency NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Book Your Test Today!
Don’t wait to understand your genetic health. Book the PGK1 Gene Phosphoglycerate Kinase 1 Deficiency NGS Genetic DNA Test today. For inquiries or to schedule your 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: A clinical history of the patient is required, along with a genetic counseling session to draw a pedigree chart of family members affected with PGK1 Gene Phosphoglycerate Kinase 1 deficiency.
Specialty and Department
This test falls under the specialty of Neurology, within the Genetics department, utilizing NGS technology to diagnose neurological disorders.