ATN1 Gene Dentatorubral-pallidoluysian atrophy Genetic Test
Components: ATN1 Gene Dentatorubral-pallidoluysian atrophy Genetic Test
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 ATN1 Gene Dentatorubral-pallidoluysian atrophy NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ATN1 Gene Dentatorubral-pallidoluysian atrophy.
Test Details: Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare genetic disorder that affects the brain and nervous system. It is caused by mutations in the ATN1 gene, which provides instructions for making a protein called atrophin-1. The mutation leads to an abnormal form of the protein that accumulates in the brain, causing damage to the neurons. NGS (next-generation sequencing) genetic testing can be used to identify mutations in the ATN1 gene. This test involves sequencing the entire gene to detect any changes or abnormalities that may be present. NGS testing is a powerful tool that can detect even small changes in the DNA sequence, making it an effective method for diagnosing genetic disorders like DRPLA. If a mutation is detected in the ATN1 gene, it can confirm a diagnosis of DRPLA and help guide treatment and management options. While there is currently no cure for DRPLA, early diagnosis and management can help improve quality of life for affected individuals and their families.
Test Name | ATN1 Gene Dentatorubral-pallidoluysian atrophy Genetic Test |
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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 ATN1 Gene Dentatorubral-pallidoluysian atrophy NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ATN1 Gene Dentatorubral-pallidoluysian atrophy |
Test Details |
Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare genetic disorder that affects the brain and nervous system. It is caused by mutations in the ATN1 gene, which provides instructions for making a protein called atrophin-1. The mutation leads to an abnormal form of the protein that accumulates in the brain, causing damage to the neurons. NGS (next-generation sequencing) genetic testing can be used to identify mutations in the ATN1 gene. This test involves sequencing the entire gene to detect any changes or abnormalities that may be present. NGS testing is a powerful tool that can detect even small changes in the DNA sequence, making it an effective method for diagnosing genetic disorders like DRPLA. If a mutation is detected in the ATN1 gene, it can confirm a diagnosis of DRPLA and help guide treatment and management options. While there is currently no cure for DRPLA, early diagnosis and management can help improve quality of life for affected individuals and their families. |