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PUS1 Gene Mitochondrial Myopathy and Sideroblastic Anemia Type 1 Genetic Test

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

-21%

The “PUS1 Gene Mitochondrial Myopathy and Sideroblastic Anemia Type 1 Genetic Test” is a specialized diagnostic tool available at DNA Labs UAE, designed to identify mutations in the PUS1 gene. These mutations are responsible for a rare, inherited condition known as Mitochondrial Myopathy and Sideroblastic Anemia Type 1. This condition is characterized by a combination of muscle weakness (myopathy) and a form of anemia in which the bone marrow produces ringed sideroblasts instead of healthy red blood cells. Early and accurate diagnosis through this genetic test can be crucial for the management and treatment of the condition. The test is priced at 4400 AED and involves analyzing the patient’s DNA to look for specific genetic alterations in the PUS1 gene, providing essential information for clinicians to develop an appropriate treatment plan.

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PUS1 Gene Mitochondrial Myopathy and Sideroblastic Anemia Type 1 Genetic Test

Test Name: PUS1 Gene Mitochondrial Myopathy and Sideroblastic Anemia Type 1 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 PUS1 Gene Mitochondrial Myopathy and Sideroblastic Anemia Type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PUS1 Gene Mitochondrial Myopathy and Sideroblastic Anemia Type 1.

Test Details

The PUS1 gene is associated with a condition called mitochondrial myopathy and sideroblastic anemia type 1. Mitochondrial myopathy refers to a group of disorders that affect the mitochondria, which are responsible for producing energy in the cells. Sideroblastic anemia is a condition characterized by an impaired ability of the bone marrow to produce healthy red blood cells.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that allows for the simultaneous analysis of multiple genes or the entire genome. It uses high-throughput sequencing technology to rapidly sequence DNA samples and identify variations or mutations in the genes of interest.

In the context of mitochondrial myopathy and sideroblastic anemia type 1, NGS genetic testing can be used to analyze the PUS1 gene for any disease-causing mutations or variations. This can help in diagnosing individuals with this specific genetic condition and provide valuable information for their medical management and treatment.

It is important to note that genetic testing should always be performed and interpreted by qualified healthcare professionals who can provide appropriate genetic counseling and guidance based on the results.

Test Name PUS1 Gene Mitochondrial myopathy and sideroblastic anemia type 1 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 PUS1 Gene Mitochondrial myopathy and sideroblastic anemia type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PUS1 Gene Mitochondrial myopathy and sideroblastic anemia type 1
Test Details

The PUS1 gene is associated with a condition called mitochondrial myopathy and sideroblastic anemia type 1. Mitochondrial myopathy refers to a group of disorders that affect the mitochondria, which are responsible for producing energy in the cells. Sideroblastic anemia is a condition characterized by an impaired ability of the bone marrow to produce healthy red blood cells.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that allows for the simultaneous analysis of multiple genes or the entire genome. It uses high-throughput sequencing technology to rapidly sequence DNA samples and identify variations or mutations in the genes of interest.

In the context of mitochondrial myopathy and sideroblastic anemia type 1, NGS genetic testing can be used to analyze the PUS1 gene for any disease-causing mutations or variations. This can help in diagnosing individuals with this specific genetic condition and provide valuable information for their medical management and treatment.

It is important to note that genetic testing should always be performed and interpreted by qualified healthcare professionals who can provide appropriate genetic counseling and guidance based on the results.