NHEJ1 Gene Severe Combined Immunodeficiency with Microcephaly Growth Retardation and Sensitivity to Ionizing Radiation Genetic Test
Are you concerned about severe combined immunodeficiency (SCID) with microcephaly, growth retardation, and sensitivity to ionizing radiation? DNA Labs UAE offers the NHEJ1 Gene Severe Combined Immunodeficiency with Microcephaly Growth Retardation and Sensitivity to Ionizing Radiation Genetic Test to provide you with the answers you need.
Test Details
The NHEJ1 gene is associated with a rare genetic disorder known as severe combined immunodeficiency (SCID) with microcephaly, growth retardation, and sensitivity to ionizing radiation. This disorder is characterized by a weakened immune system, resulting in a high susceptibility to infections. Individuals with this condition also experience abnormal brain development, leading to microcephaly (small head size) and intellectual disability. Additionally, they may exhibit growth retardation and are particularly sensitive to the damaging effects of ionizing radiation.
NGS genetic testing refers to next-generation sequencing, a high-throughput DNA sequencing method that allows for the analysis of multiple genes simultaneously. This type of testing can help identify specific genetic variations or mutations in the NHEJ1 gene that may be responsible for the observed symptoms in individuals suspected to have this disorder. By detecting these genetic abnormalities, NGS genetic testing can aid in confirming a diagnosis, providing information for genetic counseling, and potentially guiding treatment options.
Test Components and Price
The NHEJ1 Gene Severe Combined Immunodeficiency with Microcephaly Growth Retardation and Sensitivity to Ionizing Radiation Genetic Test is priced at 4400.0 AED. The test components include:
- Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
- Report Delivery: 3 to 4 Weeks
- Method: NGS Technology
- Test Type: Osteology Dermatology Immunology Disorders
Doctor and Test Department
This test is conducted by a dermatologist and falls under the Genetics department at DNA Labs UAE.
Pre Test Information
Prior to undergoing the NHEJ1 Gene Severe Combined Immunodeficiency with Microcephaly Growth Retardation and Sensitivity to Ionizing Radiation Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected with this disorder. This information can help in the accurate interpretation of the test results.
| Test Name | NHEJ1 Gene Severe combined immunodeficiency with microcephaly growth retardation and sensitivity to ionizing radiation Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card |
| Report Delivery | 3 to 4 Weeks |
| Method | NGS Technology |
| Test type | Osteology Dermatology Immunology Disorders |
| Doctor | Dermatologist |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for NHEJ1 Gene Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with NHEJ1 Gene Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation NGS Genetic DNA Test gene NHEJ1 |
| Test Details | The NHEJ1 gene is associated with a rare genetic disorder known as severe combined immunodeficiency (SCID) with microcephaly, growth retardation, and sensitivity to ionizing radiation. This disorder is characterized by a weakened immune system, resulting in a high susceptibility to infections. Individuals with this condition also experience abnormal brain development, leading to microcephaly (small head size) and intellectual disability. Additionally, they may exhibit growth retardation and are particularly sensitive to the damaging effects of ionizing radiation. NGS genetic testing refers to next-generation sequencing, a high-throughput DNA sequencing method that allows for the analysis of multiple genes simultaneously. This type of testing can help identify specific genetic variations or mutations in the NHEJ1 gene that may be responsible for the observed symptoms in individuals suspected to have this disorder. By detecting these genetic abnormalities, NGS genetic testing can aid in confirming a diagnosis, providing information for genetic counseling, and potentially guiding treatment options. |
