PIGV Gene Hyperphosphatasia with Mental Retardation Syndrome Type 1 NGS Genetic DNA Test
Introduction
The PIGV Gene Hyperphosphatasia with Mental Retardation Syndrome Type 1 NGS Genetic DNA Test is an advanced genetic test that plays a critical role in diagnosing hyperphosphatasia, a condition characterized by elevated levels of alkaline phosphatase in the blood, often associated with cognitive and developmental challenges. This test utilizes Next Generation Sequencing (NGS) technology to detect mutations in the PIGV gene, which are pivotal for understanding the genetic basis of this syndrome.
What the Test Measures
This test specifically measures the presence of mutations in the PIGV gene. By analyzing the genetic material, healthcare providers can identify whether a patient has inherited the mutations responsible for hyperphosphatasia and related mental retardation syndrome.
Who Should Consider This Test
Individuals who should consider this test include:
- Patients with symptoms of developmental delays or cognitive impairments.
- Families with a history of hyperphosphatasia or related genetic disorders.
- Individuals seeking genetic counseling for family planning.
Benefits of Taking the Test
Taking the PIGV Gene Hyperphosphatasia test offers numerous benefits:
- Early identification of genetic disorders, leading to timely interventions.
- Informed family planning and risk assessment for future pregnancies.
- Access to specialized care and management strategies tailored to the condition.
- Peace of mind through understanding genetic health risks.
Understanding Your Results
Results from the PIGV Gene Hyperphosphatasia test will indicate whether mutations are present in the PIGV gene. A genetic counselor will assist in interpreting the results, explaining their implications, and discussing potential next steps for management and treatment.
Test Details and Pricing
| Test Name | Price (NGN) |
|---|---|
| PIGV Gene Hyperphosphatasia with Mental Retardation Syndrome Type 1 NGS Genetic DNA Test | Regular Price: 560000 NGN |
| Discount Price: 400000 NGN |
How to Book the Test
To book the PIGV Gene Hyperphosphatasia with Mental Retardation Syndrome Type 1 NGS Genetic DNA Test, please contact us at +2348077798758 via call or WhatsApp. Our team is ready to assist you with scheduling your appointment and answering any questions you may have.
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 affected family members.
Specialty: Pediatrics
Department: Genetics
Method: NGS Technology
Disease Type: Dysmorphology
