CLCN5 Gene Hypophosphatemic Rickets NGS Genetic DNA Test
Introduction
The CLCN5 Gene Hypophosphatemic Rickets NGS Genetic DNA Test is a specialized genetic test designed to identify mutations in the CLCN5 gene, which are responsible for causing hypophosphatemic rickets. This condition is characterized by low phosphate levels in the blood, leading to weak bones and other complications. Understanding the genetic basis of this disorder is crucial for effective management and treatment.
What the Test Measures
This test utilizes Next Generation Sequencing (NGS) technology to detect specific mutations in the CLCN5 gene. By analyzing the genetic material, physicians can ascertain whether a patient has inherited a genetic predisposition to hypophosphatemic rickets.
Who Should Consider This Test
Individuals who exhibit symptoms of hypophosphatemic rickets, such as bone deformities, growth retardation, or dental issues, should consider this test. Additionally, family members of patients diagnosed with CLCN5-related disorders may also benefit from genetic testing to understand their risk factors.
Benefits of Taking the Test
- Accurate diagnosis of genetic causes of rickets.
- Informed decision-making regarding treatment options.
- Ability to assess the risk for family members.
- Guidance for future pregnancies based on genetic counseling.
Understanding Your Results
Results from the CLCN5 Gene Hypophosphatemic Rickets NGS Genetic DNA Test will indicate whether any mutations are present. A genetic counselor or healthcare provider will help interpret these results, providing clarity on the implications for treatment and management.
Test Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
CLCN5 Gene Hypophosphatemic Rickets NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Sample Type and Turnaround Time
This test can be conducted using blood samples, extracted DNA, or even one drop of blood on an FTA card. The expected turnaround time for results is approximately 3 to 4 weeks.
Pre-Test Instructions
Before undergoing the CLCN5 Gene Hypophosphatemic Rickets NGS Genetic DNA Test, patients should prepare by providing a detailed clinical history. It is also recommended to have a genetic counseling session to create a pedigree chart of affected family members.
Branches and Booking
We have branches across all major cities in Kenya, including Nairobi, Mombasa, and Kisumu. For your convenience, we also offer home sample collection services. To book the CLCN5 Gene Hypophosphatemic Rickets NGS Genetic DNA Test, please call or WhatsApp us at +254711564616.