NHEJ1 Gene Severe Combined Immunodeficiency with Microcephaly Growth Retardation and Sensitivity to Ionizing Radiation NGS Genetic DNA Test
Introduction
The NHEJ1 Gene Severe Combined Immunodeficiency with Microcephaly Growth Retardation and Sensitivity to Ionizing Radiation NGS Genetic DNA Test is a cutting-edge diagnostic tool that plays a vital role in identifying genetic disorders in children. This test is particularly important for those exhibiting symptoms of severe combined immunodeficiency (SCID), which can result in significant health challenges if not diagnosed and treated early.
What the Test Measures
This test utilizes Next Generation Sequencing (NGS) technology to analyze the NHEJ1 gene, which is crucial for the body’s immune response. It detects mutations that may lead to SCID, microcephaly, growth retardation, and increased sensitivity to ionizing radiation.
Who Should Consider This Test
Families should consider this test if:
- A child exhibits symptoms of immunodeficiency, such as frequent infections.
- There is a family history of genetic disorders, particularly those related to the NHEJ1 gene.
- Clinical evaluations suggest potential dysmorphology or developmental delays.
Benefits of Taking the Test
- Early detection of genetic disorders can lead to timely interventions.
- Provides families with critical information for future planning and management.
- Helps in understanding the genetic basis of observed symptoms.
Understanding Your Results
Results from the NHEJ1 Gene test will provide insights into the presence of genetic mutations. It is essential to discuss these results with a healthcare professional who can guide you through the implications and potential next steps.
Test Details
| Test Name | Price (NGN) |
|---|---|
| Discount Price | 400,000 NGN |
| Regular Price | 560,000 NGN |
Booking the Test
To book the NHEJ1 Gene Severe Combined Immunodeficiency with Microcephaly Growth Retardation and Sensitivity to Ionizing Radiation NGS Genetic DNA Test, please contact us at +2348077798758 or visit our website to schedule an appointment.
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 create a pedigree chart of affected family members.
Specialty: Pediatrics
Department: Genetics
Method: NGS Technology
Disease Type: Dysmorphology
