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SAMHD1 Gene Aicardi-Goutieres syndrome type 5 Genetic Test

4,400 د.إ

-21%

The SAMHD1 gene plays a critical role in the human body’s immune response and cell cycle regulation. Mutations in this gene are associated with Aicardi-Goutières syndrome type 5 (AGS5), a rare genetic disorder that affects the brain, immune system, and skin. This condition is characterized by early-onset encephalopathy, which presents with severe intellectual disability, loss of motor control, and seizures, alongside symptoms like skin rashes and an increased susceptibility to autoimmune conditions.

To diagnose AGS5, genetic testing of the SAMHD1 gene is essential. DNA Labs UAE offers a comprehensive genetic test for this purpose, enabling precise identification of mutations in the SAMHD1 gene. The test is crucial for confirming the diagnosis of AGS5, understanding the genetic basis of the condition, and facilitating genetic counseling for affected families.

The cost of the SAMHD1 Gene Aicardi-Goutières syndrome type 5 Genetic Test at DNA Labs UAE is 4400 AED. This investment covers the detailed analysis necessary to detect the specific mutations in the SAMHD1 gene that are responsible for AGS5. Early and accurate diagnosis through this test can significantly impact the management and treatment options for individuals with this syndrome, providing them with a better quality of life.

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SAMHD1 Gene Aicardi-Goutieres syndrome type 5 Genetic Test

Test Name: SAMHD1 Gene Aicardi-Goutieres syndrome type 5 Genetic Test

Components: Blood or Extracted DNA or One drop Blood on FTA Card

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: Neurological Disorders

Doctor: Neurologist

Test Department: Genetics

Pre Test Information: Clinical History of Patient who is going for SAMHD1 Gene Aicardi-Goutieres syndrome type 5 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SAMHD1 Gene Aicardi-Goutieres syndrome type 5.

Test Details: The SAMHD1 gene is associated with Aicardi-Goutieres syndrome type 5, which is a rare autosomal recessive disorder that affects the brain, skin, and immune system. The SAMHD1 gene provides instructions for making a protein that plays a role in regulating the immune system and protecting cells from viral infections. Mutations in this gene can lead to a malfunction of the protein, resulting in an overactive immune response that damages the body’s own tissues. NGS (next-generation sequencing) genetic testing can identify mutations in the SAMHD1 gene that are associated with Aicardi-Goutieres syndrome type 5. This test involves analyzing the DNA of a blood sample to look for changes in the SAMHD1 gene that may be causing the disorder. NGS testing can provide a more comprehensive analysis of the gene compared to traditional genetic testing methods, allowing for more accurate diagnosis and personalized treatment options for affected individuals.

Test Name SAMHD1 Gene Aicardi-Goutieres syndrome type 5 Genetic Test
Components
Price 4400.0 AED
Sample Condition Blood or Extracted DNA or One drop Blood on FTA Card o
Report Delivery 3 to 4 Weeks
Method NGS Technology
Test type Neurological Disorders
Doctor Neurologist
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for SAMHD1 Gene Aicardi-Goutieres syndrome type 5 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SAMHD1 Gene Aicardi-Goutieres syndrome type 5
Test Details

SAMHD1 gene is associated with Aicardi-Goutieres syndrome type 5, which is a rare autosomal recessive disorder that affects the brain, skin, and immune system. The SAMHD1 gene provides instructions for making a protein that plays a role in regulating the immune system and protecting cells from viral infections. Mutations in this gene can lead to a malfunction of the protein, resulting in an overactive immune response that damages the body’s own tissues.

NGS (next-generation sequencing) genetic testing can identify mutations in the SAMHD1 gene that are associated with Aicardi-Goutieres syndrome type 5. This test involves analyzing the DNA of a blood sample to look for changes in the SAMHD1 gene that may be causing the disorder. NGS testing can provide a more comprehensive analysis of the gene compared to traditional genetic testing methods, allowing for more accurate diagnosis and personalized treatment options for affected individuals.