PIGW Gene Hyperphosphatasia with Mental Retardation Syndrome Type 5 NGS Genetic DNA Test
Introduction
The PIGW Gene Hyperphosphatasia with Mental Retardation Syndrome Type 5 NGS Genetic DNA Test is an advanced diagnostic tool designed to identify genetic mutations associated with hyperphosphatasia and related developmental disorders. This test employs Next Generation Sequencing (NGS) technology, allowing for a comprehensive analysis of the PIGW gene, which plays a crucial role in normal neurological and skeletal development.
What the Test Measures
This genetic test specifically detects mutations in the PIGW gene that can lead to hyperphosphatasia, characterized by elevated levels of alkaline phosphatase in the blood and associated with mental retardation syndrome type 5. By analyzing the genetic code, clinicians can determine the presence of pathogenic variants that may affect a patient’s health.
Who Should Consider This Test
Individuals who may benefit from this test include:
- Patients with symptoms of developmental delays or intellectual disabilities.
- Individuals exhibiting dysmorphological features.
- Those with a family history of hyperphosphatasia or related genetic disorders.
- Patients referred by pediatricians or geneticists for further evaluation.
Benefits of Taking the Test
- Accurate diagnosis of genetic conditions, facilitating timely intervention.
- Informed family planning and risk assessment for relatives.
- Guidance for personalized treatment options tailored to genetic findings.
- Access to genetic counseling for comprehensive understanding and support.
Understanding Your Results
Results from the PIGW Gene Hyperphosphatasia with Mental Retardation Syndrome Type 5 NGS Genetic DNA Test will provide insights into the presence or absence of mutations in the PIGW gene. A healthcare professional will interpret the results, offering guidance on the implications for health and management strategies.
Test Pricing
| Price Type | Amount (NGN) |
|---|---|
| Discount Price | 400,000 NGN |
| Regular Price | 560,000 NGN |
Booking Your Test
To schedule your PIGW Gene Hyperphosphatasia with Mental Retardation Syndrome Type 5 NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with any inquiries and guide you through the booking process.
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 create a pedigree chart of affected family members.
Specialty: Pediatrics
Department: Genetics
Method: NGS Technology
Disease Type: Dysmorphology
