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COX4I2 Gene Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis Genetic Test Cost

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

-21%

The COX4I2 gene, associated with a unique and rare condition that encompasses exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, plays a critical role in mitochondrial function. This genetic anomaly leads to a spectrum of symptoms, including malabsorption due to the pancreas’s inability to produce necessary enzymes, anemia stemming from ineffective erythropoiesis, and abnormal bone growth in the skull. To diagnose this condition accurately, genetic testing is paramount.

DNA Labs UAE offers a specialized genetic test designed to identify mutations in the COX4I2 gene, providing crucial information for diagnosing this complex syndrome. The test is a vital tool for healthcare professionals to establish a definitive diagnosis, enabling them to tailor treatment plans effectively and provide genetic counseling for affected families.

The cost of this comprehensive genetic test is 4400 AED. Conducted in state-of-the-art facilities, the test ensures high accuracy and reliability, with results that can guide clinical decisions and support patient management. For families and individuals facing the possibility of this condition, the test represents a critical step towards understanding and managing the associated health challenges.

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COX4I2 Gene Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis Genetic Test

Test Name: COX4I2 Gene Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis Genetic Test

Components: Osteology, Dermatology, Immunology Disorders

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: Genetics

Doctor: Dermatologist

Test Department: Genetics

Pre Test Information: Clinical History of Patient who is going for COX4I2 Gene Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COX4I2 Gene Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis NGS Genetic DNA Test gene COX4I2

Test Details: The COX4I2 gene is responsible for encoding a protein called cytochrome c oxidase subunit 4 isoform 2, which is involved in the electron transport chain in mitochondria. Mutations in this gene have been associated with various disorders, including exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.

Exocrine pancreatic insufficiency is a condition characterized by a deficiency in the production and secretion of digestive enzymes by the pancreas. This can lead to malabsorption of nutrients and symptoms such as diarrhea, weight loss, and malnutrition.

Dyserythropoietic anemia refers to a group of rare genetic disorders that affect the production of red blood cells. These disorders can result in anemia, fatigue, and other symptoms related to a reduced ability of the blood to carry oxygen.

Calvarial hyperostosis is a condition characterized by abnormal thickening of the bones in the skull, specifically the calvaria. This can lead to symptoms such as headaches, vision problems, and facial deformities.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously and identify mutations or variations that may be associated with certain disorders. In the case of the COX4I2 gene, NGS genetic testing can be used to identify mutations that may be causing exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. This can help with the diagnosis of these conditions and provide information for appropriate management and treatment options.

Test Name COX4I2 Gene Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis 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 Osteology Dermatology Immunology Disorders
Doctor Dermatologist
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for COX4I2 Gene Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COX4I2 Gene Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis NGS Genetic DNA Test gene COX4I2
Test Details

The COX4I2 gene is responsible for encoding a protein called cytochrome c oxidase subunit 4 isoform 2, which is involved in the electron transport chain in mitochondria. Mutations in this gene have been associated with various disorders, including exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.

Exocrine pancreatic insufficiency is a condition characterized by a deficiency in the production and secretion of digestive enzymes by the pancreas. This can lead to malabsorption of nutrients and symptoms such as diarrhea, weight loss, and malnutrition.

Dyserythropoietic anemia refers to a group of rare genetic disorders that affect the production of red blood cells. These disorders can result in anemia, fatigue, and other symptoms related to a reduced ability of the blood to carry oxygen.

Calvarial hyperostosis is a condition characterized by abnormal thickening of the bones in the skull, specifically the calvaria. This can lead to symptoms such as headaches, vision problems, and facial deformities.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously and identify mutations or variations that may be associated with certain disorders. In the case of the COX4I2 gene, NGS genetic testing can be used to identify mutations that may be causing exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. This can help with the diagnosis of these conditions and provide information for appropriate management and treatment options.

SKU: TEST-2986 Category:

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