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ABCC8 Gene Hypoglycemia of Infancy Leucine-Sensitive Genetic Test

Name: ABCC8 Gene Hypoglycemia of Infancy Leucine-Sensitive Genetic Test
SKU: TEST-2468
Price: 4400 AED
Availability: InStock

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

-21%

The “ABCC8 Gene Hypoglycemia of Infancy Leucine-Sensitive Genetic Test” is a specialized diagnostic procedure offered by DNA Labs UAE, aimed at identifying mutations in the ABCC8 gene. This gene plays a critical role in insulin secretion from the pancreas. Mutations in the ABCC8 gene can lead to congenital hyperinsulinism, a condition characterized by excessive insulin secretion resulting in persistent hypoglycemia (low blood sugar levels) in infants. This condition is often sensitive to leucine, an amino acid that can further stimulate insulin release in affected individuals.

The test is crucial for early diagnosis and management of the condition, helping to prevent potential complications associated with persistent hypoglycemia, such as neurological damage. By analyzing the patient’s DNA for specific mutations in the ABCC8 gene, healthcare providers can tailor treatment strategies to manage symptoms effectively and improve the quality of life for affected infants.

The cost of the test is 4400 AED, reflecting the specialized nature of the genetic analysis and the significant value it provides in guiding the management of infants with this rare but potentially severe condition. Conducted at DNA Labs UAE, this test represents an important tool in the arsenal of genetic diagnostics, offering hope and solutions for families dealing with the challenges of congenital hyperinsulinism.

Description

ABCC8 Gene Hypoglycemia of Infancy Leucine-Sensitive Genetic Test

Components: ABCC8 Gene Hypoglycemia of infancy leucine-sensitive Genetic Test

Price: 4400.0 AED

Sample Condition: Blood

Report Delivery: 3 to 4 Weeks

Method: NGS Technology

Test Type: Metabolic Disorders

Doctor: General Physician

Test Department: Genetics

Pre Test Information: Clinical History of Patient who is going for ABCC8 Gene Hypoglycemia of infancy, leucine-sensitive NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Hypoglycemia of infancy, leucine-sensitive.

Test Details:

The ABCC8 gene is responsible for encoding a protein called the sulfonylurea receptor 1 (SUR1). This protein is found in the beta cells of the pancreas and plays a crucial role in regulating insulin secretion.

Hypoglycemia of infancy, leucine-sensitive (HI/LS) is a rare genetic disorder characterized by severe hypoglycemia (low blood sugar) in infants. This condition is caused by mutations in the ABCC8 gene, leading to abnormal functioning of the SUR1 protein. The leucine sensitivity in HI/LS refers to the fact that the condition is triggered by the intake of leucine, an essential amino acid found in many foods. When an affected individual consumes leucine, it further exacerbates the hypoglycemia.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously, allowing for the identification of genetic variations or mutations that may be responsible for a particular condition. In the case of HI/LS, NGS genetic testing can help identify mutations in the ABCC8 gene, confirming the diagnosis of this disorder.

By detecting the specific mutations in the ABCC8 gene, NGS genetic testing can aid in the accurate diagnosis of HI/LS, allowing for appropriate management and treatment strategies to be implemented. This may include dietary modifications, medication, and close monitoring of blood sugar levels to prevent hypoglycemic episodes and associated complications.

Test Name	ABCC8 Gene Hypoglycemia of infancy leucine-sensitive Genetic Test
Components
Price	4400.0 AED
Sample Condition	Blood
Report Delivery	3 to 4 Weeks
Method	NGS Technology
Test type	Metabolic Disorders
Doctor	General Physician
Test Department:	Genetics
Pre Test Information	Clinical History of Patient who is going for ABCC8 Gene Hypoglycemia of infancy, leucine-sensitive NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Hypoglycemia of infancy, leucine-sensitive
Test Details	The ABCC8 gene is responsible for encoding a protein called the sulfonylurea receptor 1 (SUR1). This protein is found in the beta cells of the pancreas and plays a crucial role in regulating insulin secretion. Hypoglycemia of infancy, leucine-sensitive (HI/LS) is a rare genetic disorder characterized by severe hypoglycemia (low blood sugar) in infants. This condition is caused by mutations in the ABCC8 gene, leading to abnormal functioning of the SUR1 protein. The leucine sensitivity in HI/LS refers to the fact that the condition is triggered by the intake of leucine, an essential amino acid found in many foods. When an affected individual consumes leucine, it further exacerbates the hypoglycemia. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously, allowing for the identification of genetic variations or mutations that may be responsible for a particular condition. In the case of HI/LS, NGS genetic testing can help identify mutations in the ABCC8 gene, confirming the diagnosis of this disorder. By detecting the specific mutations in the ABCC8 gene, NGS genetic testing can aid in the accurate diagnosis of HI/LS, allowing for appropriate management and treatment strategies to be implemented. This may include dietary modifications, medication, and close monitoring of blood sugar levels to prevent hypoglycemic episodes and associated complications.