JAK3 Gene SCID Autosomal Recessive T Negative B Positive Type NGS Genetic DNA Test
The JAK3 Gene SCID Autosomal Recessive T Negative B Positive Type NGS Genetic DNA Test is a cutting-edge diagnostic tool that plays a vital role in identifying severe combined immunodeficiency (SCID) resulting from mutations in the JAK3 gene. This genetic test utilizes Next-Generation Sequencing (NGS) technology to provide accurate and comprehensive results.
Importance of the Test
SCID is a life-threatening condition that affects the immune system, leading to increased vulnerability to infections. Early diagnosis is crucial for effective management and treatment. The JAK3 Gene SCID test helps in understanding the genetic basis of the disorder and facilitates timely interventions, such as bone marrow transplantation or gene therapy.
What the Test Measures
This test specifically detects mutations in the JAK3 gene, which are responsible for the autosomal recessive form of SCID. By analyzing the genetic material, healthcare providers can determine the presence of these mutations and assess the risk of developing SCID.
Who Should Consider This Test?
Individuals who should consider the JAK3 Gene SCID test include:
- Infants presenting with recurrent infections or failure to thrive.
- Family members of diagnosed SCID patients, especially if there is a known history of JAK3 mutations.
- Patients with symptoms indicative of immunodeficiency.
Benefits of Taking the Test
Taking the JAK3 Gene SCID test offers several benefits, including:
- Early identification of SCID, which can lead to prompt treatment.
- Informed family planning and genetic counseling for at-risk families.
- Improved understanding of the condition, allowing for tailored management strategies.
Understanding Your Results
Results from the JAK3 Gene SCID test will indicate whether mutations are present. A positive result suggests a higher risk for SCID, while a negative result may provide reassurance. It is essential to discuss results with a healthcare provider for proper interpretation and guidance.
Test Pricing
Discount Price | Regular Price |
---|---|
400000 NGN | 560000 NGN |
Booking the Test
To book the JAK3 Gene SCID Autosomal Recessive T Negative B Positive Type NGS Genetic DNA Test, please contact us at +2348077798758 or visit our website to schedule your appointment. Early detection saves lives!
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 JAK3 gene.
Specialty: Hematologist | Department: Genetics | Method: NGS Technology | Disease Type: Hematology