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FBP1 Gene Fructose-16-bisphosphatase deficiency Genetic Test Cost

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

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The FBP1 gene encodes the enzyme fructose-1,6-bisphosphatase, which plays a crucial role in the process of gluconeogenesis, the metabolic pathway that generates glucose from non-carbohydrate substrates. Mutations in the FBP1 gene can lead to a rare inherited metabolic disorder known as fructose-1,6-bisphosphatase deficiency. This condition is characterized by impaired glucose production, leading to symptoms such as hypoglycemia, particularly during fasting or infections, ketosis, and lactic acidosis. Early diagnosis and management are essential to prevent potentially severe outcomes.

The genetic test for FBP1 gene fructose-1,6-bisphosphatase deficiency is a specialized diagnostic tool designed to detect mutations in the FBP1 gene that are responsible for the condition. This test is crucial for confirming the diagnosis, enabling appropriate management, and providing information for family planning.

In the UAE, this genetic test is available at DNA Labs UAE, a leading facility in genetic diagnostics and personalized medicine. The cost of the test is 4400 AED. The process involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed in the laboratory to identify any mutations in the FBP1 gene. The results from this test can help guide treatment strategies, dietary recommendations, and inform family members about their risk of passing the condition onto future generations.

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FBP1 Gene Fructose-16-bisphosphatase deficiency Genetic Test

Are you concerned about Fructose-1,6-bisphosphatase deficiency? DNA Labs UAE offers a comprehensive genetic test to analyze the FBP1 gene for mutations or variations associated with this rare inherited metabolic disorder.

Test Details

The FBP1 gene fructose-1,6-bisphosphatase deficiency NGS genetic test utilizes next-generation sequencing (NGS) technology to identify any mutations or variations in the FBP1 gene. This test is specifically designed for the diagnosis of fructose-1,6-bisphosphatase deficiency, which affects the metabolism of fructose-1,6-bisphosphate, a crucial molecule in glucose breakdown for energy production.

By sequencing the entire FBP1 gene, our NGS genetic test can provide valuable information about the specific genetic changes causing the deficiency. This comprehensive analysis allows for the detection of rare or novel mutations that may not be identified by other testing methods.

Our NGS technology enables the analysis of multiple genes simultaneously, making the test more efficient and cost-effective compared to traditional sequencing methods. The results of the FBP1 gene fructose-1,6-bisphosphatase deficiency NGS genetic test can be used for genetic counseling, family planning, and personalized management of the condition.

Test Components and Price

Test Name: FBP1 Gene Fructose-16-bisphosphatase deficiency Genetic Test

Components: NGS Technology

Price: 4400.0 AED

Sample Condition and Report Delivery

Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card

Report Delivery: 3 to 4 Weeks

Test Type and Doctor

Test Type: Metabolic Disorders

Doctor: General Physician

Test Department and Pre Test Information

Test Department: Genetics

Pre Test Information: A Genetic Counselling session to draw a pedigree chart of family members affected with Fructose-1,6-bisphosphatase deficiency

Symptoms and Diagnosis

Fructose-1,6-bisphosphatase deficiency is a rare inherited metabolic disorder that can have various symptoms. These symptoms may include hypoglycemia, seizures, lactic acidosis, and developmental delay. Diagnosis of this condition can be confirmed through genetic testing, such as the FBP1 gene fructose-1,6-bisphosphatase deficiency NGS genetic test offered by DNA Labs UAE.

Treatment and Management

Once diagnosed, treatment options for fructose-1,6-bisphosphatase deficiency may include dietary modifications, enzyme replacement therapy, and symptom management. Genetic counseling and personalized management plans can help individuals and families affected by this condition.

Don’t wait any longer. Get the answers you need with the FBP1 Gene Fructose-16-bisphosphatase deficiency Genetic Test at DNA Labs UAE. Contact us today to schedule an appointment.

Test Name FBP1 Gene Fructose-16-bisphosphatase deficiency 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 Metabolic Disorders
Doctor General Physician
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for FBP1 Gene Fructose-1,6-bisphosphatase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Fructose-1,6-bisphosphatase deficiency
Test Details

FBP1 gene fructose-1,6-bisphosphatase deficiency NGS genetic test is a type of genetic test that uses next-generation sequencing (NGS) technology to analyze the FBP1 gene for mutations or variations that may be associated with fructose-1,6-bisphosphatase deficiency.

Fructose-1,6-bisphosphatase deficiency is a rare inherited metabolic disorder that affects the metabolism of fructose-1,6-bisphosphate, a key molecule in the breakdown of glucose for energy production. Mutations in the FBP1 gene can lead to a deficiency of the fructose-1,6-bisphosphatase enzyme, which is necessary for the proper regulation of glucose metabolism.

The NGS genetic test for FBP1 gene fructose-1,6-bisphosphatase deficiency involves sequencing the entire FBP1 gene to identify any mutations or variations that may be present. This can help in the diagnosis of the condition and provide information about the specific genetic changes that are causing the deficiency.

NGS technology allows for the analysis of multiple genes simultaneously, making it a more efficient and cost-effective method for genetic testing compared to traditional sequencing methods. It can provide a comprehensive analysis of the FBP1 gene and identify rare or novel mutations that may not be detected by other testing methods.

The results of the FBP1 gene fructose-1,6-bisphosphatase deficiency NGS genetic test can be used for genetic counseling, family planning, and personalized management of the condition. Treatment options for fructose-1,6-bisphosphatase deficiency may include dietary modifications, enzyme replacement therapy, and symptom management.

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