PI4KA Gene Polymicrogyria Perisylvian with Cerebellar Hypoplasia and Arthrogryposis NGS Genetic DNA Test
Introduction
The PI4KA Gene Polymicrogyria Perisylvian with Cerebellar Hypoplasia and Arthrogryposis NGS Genetic DNA Test is an advanced diagnostic tool that leverages Next-Generation Sequencing (NGS) technology to uncover genetic mutations associated with significant developmental disorders. This test is essential for identifying the genetic basis of conditions such as polymicrogyria, cerebellar hypoplasia, and arthrogryposis, which can profoundly affect a child’s development and quality of life.
What the Test Measures
This genetic test specifically detects mutations in the PI4KA gene, which are linked to dysmorphology and developmental delays. By analyzing the genetic material, healthcare providers can gain insights into the underlying causes of these complex conditions.
Who Should Consider This Test
Parents or guardians of children exhibiting symptoms such as:
- Developmental delays
- Physical abnormalities
- Neurological symptoms
Additionally, individuals with a family history of genetic disorders related to the PI4KA gene should consider this test to assess their risk and understand potential health implications.
Benefits of Taking the Test
- Identifies genetic causes of developmental disorders.
- Guides treatment options and management strategies.
- Provides valuable information for family planning and genetic counseling.
- Helps in understanding the prognosis and expected outcomes.
Understanding Your Results
Results from the PI4KA Gene Polymicrogyria test will provide insights into whether a mutation is present. A genetic counselor or healthcare provider will help interpret these results, discussing their implications for the individual’s health and potential treatment pathways.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| PI4KA Gene Polymicrogyria Perisylvian with Cerebellar Hypoplasia and Arthrogryposis NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
How to Book the Test
To book the PI4KA Gene Polymicrogyria Perisylvian with Cerebellar Hypoplasia and Arthrogryposis NGS Genetic DNA Test, please contact us at +2348077798758 or visit our website to schedule an appointment. Our team is ready to assist you in understanding your genetic health needs.
Additional Information
Turnaround time for results is approximately 3 to 4 weeks. The test requires a sample type of blood or extracted DNA, or one drop of blood on an FTA card. Prior to testing, a clinical history of the patient and a genetic counseling session to draw a pedigree chart are recommended to assess family history related to the PI4KA gene.
