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 a specialized genetic test that utilizes Next Generation Sequencing (NGS) technology to identify mutations in the PIGW gene. This test is vital for diagnosing hyperphosphatasia, a condition characterized by elevated levels of alkaline phosphatase in the blood, often associated with mental retardation and dysmorphology. Understanding the genetic underpinnings of this syndrome allows for more personalized treatment and management strategies.
What the Test Measures
This test measures specific genetic variations in the PIGW gene that are linked to hyperphosphatasia with mental retardation syndrome type 5. By detecting these mutations, healthcare providers can confirm a diagnosis and guide treatment decisions.
Who Should Consider This Test
Individuals who exhibit symptoms of dysmorphology or have a family history of hyperphosphatasia should consider this test. Symptoms may include:
- Developmental delays
- Physical abnormalities
- Intellectual disability
Additionally, individuals with clinical indications or risk factors for genetic disorders should consult their healthcare provider about undergoing this test.
Benefits of Taking the Test
- Accurate diagnosis of genetic conditions
- Informed decision-making regarding treatment options
- Identification of at-risk family members
- Access to genetic counseling and support
Understanding Your Results
Results from the PIGW Gene Hyperphosphatasia test will provide insight into the presence or absence of mutations in the PIGW gene. It is essential to discuss these results with a healthcare professional, who can explain their implications and recommend next steps based on the findings.
Test Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
PIGW Gene Hyperphosphatasia with Mental Retardation Syndrome Type 5 NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Additional Information
The turnaround time for this test is approximately 3 to 4 weeks. Samples can be collected via blood or extracted DNA, or even a drop of blood on an FTA card. Prior to testing, a genetic counseling session is recommended to gather the clinical history of the patient and to create a pedigree chart of family members affected by the condition.
Book Your Test Today!
We have branches across Kenya, and we also offer home sample collection services. Don’t wait to get the answers you need. Book the PIGW Gene Hyperphosphatasia with Mental Retardation Syndrome Type 5 NGS Genetic DNA Test today by calling or WhatsApping us at +254713408028!