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PUS1 Gene Mitochondrial Myopathy and Sideroblastic Anemia Type 1 Genetic Test Cost

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 examination aimed at identifying mutations in the PUS1 gene, which are associated with a rare genetic condition known as Mitochondrial Myopathy and Sideroblastic Anemia Type 1 (MLASA1). This disorder 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. Individuals with this condition may experience a range of symptoms including muscle fatigue, learning difficulties, and physical developmental delays, among others.

The test, which costs 4400 AED, is conducted at DNA Labs UAE, a leading genetic testing facility known for its advanced diagnostic services. The process involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed in the laboratory to detect any mutations in the PUS1 gene. This genetic testing is crucial for the accurate diagnosis of MLASA1, enabling affected individuals to receive appropriate management and treatment options. It also provides valuable information for family planning and the assessment of risk in family members.

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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

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 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 NGS Genetic DNA Test gene PUS1

Test Details

The PUS1 gene is responsible for providing instructions to produce a protein called pseudouridine synthase 1. This protein is involved in the modification of RNA molecules, specifically the conversion of uridine to pseudouridine. Pseudouridine is a modified nucleotide found in RNA molecules that helps in maintaining the structure and stability of RNA.

Mutations in the PUS1 gene can lead to a condition called mitochondrial myopathy and sideroblastic anemia type 1. Mitochondrial myopathy refers to a group of disorders that affect the mitochondria, which are the powerhouses of the cell responsible for producing energy. Sideroblastic anemia is a condition characterized by an inability of the body to produce healthy red blood cells due to problems with iron metabolism.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that allows for the simultaneous analysis of multiple genes. It involves sequencing the DNA or RNA of an individual to identify any mutations or variations in the genes of interest. In the case of PUS1 gene-related disorders, NGS genetic testing can be used to identify any mutations in the PUS1 gene that may be causing mitochondrial myopathy and sideroblastic anemia type 1. This can help in confirming the diagnosis, providing information about disease progression, and guiding treatment options.

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
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 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 NGS Genetic DNA Test gene PUS1
Test Details

The PUS1 gene is responsible for providing instructions to produce a protein called pseudouridine synthase 1. This protein is involved in the modification of RNA molecules, specifically the conversion of uridine to pseudouridine. Pseudouridine is a modified nucleotide found in RNA molecules that helps in maintaining the structure and stability of RNA.

Mutations in the PUS1 gene can lead to a condition called mitochondrial myopathy and sideroblastic anemia type 1. Mitochondrial myopathy refers to a group of disorders that affect the mitochondria, which are the powerhouses of the cell responsible for producing energy. Sideroblastic anemia is a condition characterized by an inability of the body to produce healthy red blood cells due to problems with iron metabolism.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that allows for the simultaneous analysis of multiple genes. It involves sequencing the DNA or RNA of an individual to identify any mutations or variations in the genes of interest. In the case of PUS1 gene-related disorders, NGS genetic testing can be used to identify any mutations in the PUS1 gene that may be causing mitochondrial myopathy and sideroblastic anemia type 1. This can help in confirming the diagnosis, providing information about disease progression, and guiding treatment options.

SKU: TEST-4265 Category:

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