SMARCAL1 Gene Schimke Immunoosseous Dysplasia NGS Genetic DNA Test
Introduction
The SMARCAL1 Gene Schimke Immunoosseous Dysplasia NGS Genetic DNA Test is an advanced diagnostic tool that utilizes Next Generation Sequencing (NGS) technology to identify mutations in the SMARCAL1 gene. This genetic disorder is characterized by immunodeficiency and skeletal abnormalities, making early detection crucial for effective management and treatment.
What the Test Measures
This test specifically measures the presence of mutations in the SMARCAL1 gene, which are associated with Schimke immunoosseous dysplasia. By analyzing the genetic material from blood or extracted DNA, healthcare professionals can confirm a diagnosis and guide further treatment options.
Who Should Consider This Test
Individuals who may benefit from this test include:
- Those exhibiting symptoms of Schimke immunoosseous dysplasia, such as skeletal abnormalities or recurrent infections.
- Family members of diagnosed patients who may be at risk of inheriting the condition.
- Patients with a clinical history suggestive of genetic disorders.
Benefits of Taking the Test
Undergoing the SMARCAL1 Gene Schimke Immunoosseous Dysplasia NGS Genetic DNA Test offers several benefits:
- Accurate diagnosis of genetic conditions.
- Informed decision-making regarding treatment and management options.
- Understanding genetic risks for family members.
- Access to specialized care and genetic counseling.
Understanding Your Results
Upon completion of the test, results will be interpreted by a qualified genetic counselor or hematologist. It is important to understand that a positive result indicates the presence of a mutation, while a negative result does not guarantee the absence of the condition. Genetic counseling is recommended to discuss the implications of the results.
Test Information and Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| SMARCAL1 Gene Schimke Immunoosseous Dysplasia NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Book Your Test Today!
We have branches across all major cities in Kenya and offer home sample collection services. For inquiries or to book your test, please call or WhatsApp us at +254711564616.
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 and a genetic counseling session to draw a pedigree chart of family members affected with the SMARCAL1 gene are required.
Ensure you take the first step towards understanding your genetic health with the SMARCAL1 Gene Schimke Immunoosseous Dysplasia NGS Genetic DNA Test.
