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NHEJ1 Gene Severe Combined Immunodeficiency with Microcephaly Growth Retardation and Sensitivity to Ionizing Radiation Genetic Test Cost

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The NHEJ1 Gene Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation Genetic Test is a specialized diagnostic procedure available at DNA Labs UAE, aimed at detecting mutations in the NHEJ1 gene. This gene plays a crucial role in the non-homologous end joining (NHEJ) pathway, which is essential for DNA repair and genomic stability. Mutations in the NHEJ1 gene can lead to a complex disorder characterized by severe combined immunodeficiency, microcephaly (a condition where the head and brain are significantly smaller than normal), growth retardation, and increased sensitivity to ionizing radiation. This condition is rare and can have significant implications for affected individuals, necessitating accurate diagnosis and management.

The test is designed to provide a definitive diagnosis by analyzing the patient’s DNA for mutations in the NHEJ1 gene, which can help in understanding the condition’s severity, potential complications, and guiding treatment decisions. It is particularly important for families with a history of the disorder or related symptoms, offering them critical insights into their genetic makeup and potential health risks.

The cost of the test is 4400 AED, reflecting the comprehensive nature of the genetic analysis and the specialized expertise required to interpret the results. Conducted at DNA Labs UAE, a leading facility in genetic testing, patients and healthcare providers can expect high-quality services and reliable results, contributing to better-informed healthcare decisions and personalized patient care.

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NHEJ1 Gene Severe Combined Immunodeficiency with Microcephaly Growth Retardation and Sensitivity to Ionizing Radiation Genetic Test

Welcome to DNA Labs UAE, a leading genetic laboratory specializing in advanced genetic testing. In this blog post, we will discuss the NHEJ1 gene and its association with severe combined immunodeficiency (SCID) with microcephaly, growth retardation, and sensitivity to ionizing radiation. We will also provide details about the genetic test offered by DNA Labs UAE, including its components, cost, and method.

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: Dysmorphology
  • Doctor: Pediatrics
  • Test Department: Genetics

Pre Test Information:

Before 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 will be conducted to draw a pedigree chart of family members affected by the condition.

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. SCID is characterized by a severe impairment in the immune system, making individuals highly susceptible to infections. Microcephaly refers to a smaller than average head size, often accompanied by developmental delays and intellectual disabilities. Growth retardation results in individuals being smaller in size compared to their peers. Those with mutations in the NHEJ1 gene are more susceptible to the harmful effects of radiation exposure, such as X-rays or radioactive materials.

The NHEJ1 Gene Severe Combined Immunodeficiency with Microcephaly Growth Retardation and Sensitivity to Ionizing Radiation Genetic Test utilizes Next-Generation Sequencing (NGS) technology. This advanced technique allows for the simultaneous analysis of multiple genes. It can identify mutations or variations in the NHEJ1 gene that may be responsible for the observed symptoms in an individual. This genetic test aids in the diagnosis and understanding of the underlying genetic cause of the condition.

It is important to note that the information provided in this blog post is for general overview purposes only and should not be used for diagnostic purposes. If you or someone you know is experiencing symptoms or concerns related to this condition, it is highly recommended to consult with a healthcare professional or a genetic counselor for a proper evaluation and guidance.

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 Dysmorphology
Doctor Pediatrics
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 condition called severe combined immunodeficiency (SCID) with microcephaly, growth retardation, and sensitivity to ionizing radiation. SCID is a group of rare genetic disorders characterized by a severe impairment in the immune system, leaving affected individuals highly susceptible to infections.

Microcephaly refers to a smaller than average head size, which is often associated with developmental delays and intellectual disabilities. Growth retardation refers to a delay in physical growth, resulting in individuals being smaller in size compared to their peers.

Sensitivity to ionizing radiation means that individuals with mutations in the NHEJ1 gene are more susceptible to the harmful effects of radiation exposure, such as those from X-rays or radioactive materials.

NGS (Next-Generation Sequencing) genetic testing is a technique used to analyze multiple genes simultaneously. It can identify mutations or variations in the NHEJ1 gene that may be responsible for the observed symptoms in an individual. This type of testing can help in diagnosing and understanding the underlying genetic cause of the condition.

It is important to note that the information provided is a general overview and should not be used for diagnostic purposes. If you or someone you know is experiencing symptoms or concerns related to this condition, it is recommended to consult with a healthcare professional or a genetic counselor for a proper evaluation and guidance.

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