Plekhm1 Gene Osteopetrosis Autosomal Recessive Type 6 NGS Genetic DNA Test
Introduction
The Plekhm1 Gene Osteopetrosis Autosomal Recessive Type 6 NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify mutations in the PLEKHM1 gene, which are responsible for osteopetrosis, a rare bone disorder characterized by excessive accumulation of bone mass. This test employs Next-Generation Sequencing (NGS) technology to provide accurate and reliable results, essential for effective patient management and family planning.
What the Test Measures
This genetic test specifically detects mutations in the PLEKHM1 gene, which can lead to the autosomal recessive form of osteopetrosis. By analyzing the genetic material, healthcare providers can determine the presence of these mutations, aiding in diagnosis and treatment planning.
Who Should Consider This Test
Individuals with a family history of osteopetrosis or those exhibiting symptoms such as bone pain, fractures, or dental issues should consider this test. Additionally, patients with risk factors, including those with relatives diagnosed with the condition, may benefit from genetic counseling and testing.
Benefits of Taking the Test
- Accurate diagnosis of osteopetrosis, allowing for tailored treatment plans.
- Informed family planning for at-risk couples.
- Early detection of potential health issues, leading to timely interventions.
- Access to genetic counseling for better understanding and management of the condition.
Understanding Your Results
Results from the Plekhm1 Gene Osteopetrosis Autosomal Recessive Type 6 NGS Genetic DNA Test will be interpreted by qualified genetic counselors or medical professionals. They will explain the implications of the findings, including potential health risks and management options, ensuring that patients understand their genetic profile.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| Plekhm1 Gene Osteopetrosis Autosomal Recessive Type 6 NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
How to Book the Test
To schedule your Plekhm1 Gene Osteopetrosis Autosomal Recessive Type 6 NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you in the booking process and provide any additional information you may need.
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 by the PLEKHM1 gene.
For any inquiries or to learn more about the Plekhm1 Gene Osteopetrosis Autosomal Recessive Type 6 NGS Genetic DNA Test, do not hesitate to reach out to us!
