AMACR Gene Bile acid synthesis defect type 4 congenital Genetic Test sale cost 4400 AED
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AMACR Gene Bile acid synthesis defect type 4 congenital Genetic Test Cost

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

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The “AMACR Gene Bile Acid Synthesis Defect Type 4 Congenital Genetic Test” is a specialized diagnostic assessment conducted to identify mutations in the AMACR gene, which are responsible for a rare disorder known as Bile Acid Synthesis Defect Type 4. This condition is congenital, meaning it is present from birth, and it affects the body’s ability to properly synthesize bile acids. These acids are crucial for the digestion and absorption of fats and fat-soluble vitamins. A defect in their synthesis can lead to a variety of health issues, including liver disease, fat malabsorption, and vitamin deficiencies.

The test is particularly important for individuals who exhibit symptoms of the disorder or have a family history of bile acid synthesis defects. Early diagnosis through genetic testing can facilitate timely intervention, potentially improving outcomes through dietary management and specific treatments to supplement the deficient bile acids.

Performed at DNA Labs UAE, the test involves analyzing the patient’s DNA, extracted from a blood sample, to look for mutations in the AMACR gene. The cost of the test is 4400 AED, reflecting the comprehensive analysis and the specialized expertise required to interpret the results. Given the complexity and rarity of the condition, this genetic test is a critical tool for clinicians in diagnosing and managing Bile Acid Synthesis Defect Type 4, enabling personalized treatment plans for affected individuals.

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AMACR Gene Bile Acid Synthesis Defect Type 4 Congenital Genetic Test

Test Name: AMACR Gene Bile Acid Synthesis Defect Type 4 Congenital Genetic Test

Components: Blood or Extracted DNA or One drop Blood on FTA Card

Price: 4400.0 AED

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 AMACR Gene Bile Acid Synthesis Defect Type 4, Congenital NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Bile Acid Synthesis Defect Type 4, Congenital.

Test Details

AMACR gene bile acid synthesis defect type 4, congenital is a rare genetic disorder that affects the production of bile acids in the body. Bile acids are important for the digestion and absorption of dietary fats. This condition is caused by mutations in the AMACR gene, which provides instructions for making an enzyme called alpha-methylacyl-CoA racemase.

A next-generation sequencing (NGS) genetic test can be used to diagnose this condition. NGS is a high-throughput DNA sequencing technology that allows for the simultaneous sequencing of many genes or the entire genome. In the case of AMACR gene bile acid synthesis defect type 4, congenital, the NGS test would specifically look for mutations in the AMACR gene.

The NGS test involves collecting a sample of DNA, typically from a blood sample, and sequencing the DNA to identify any mutations or variations in the AMACR gene. This information can help confirm a diagnosis of AMACR gene bile acid synthesis defect type 4, congenital and guide treatment and management options for affected individuals.

It’s important to note that genetic testing should be performed and interpreted by qualified healthcare professionals who specialize in genetics. They can provide accurate diagnosis, counseling, and guidance for individuals and families affected by this condition.

Test Name AMACR Gene Bile acid synthesis defect type 4 congenital 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 AMACR Gene Bile acid synthesis defect type 4, congenital NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Bile acid synthesis defect type 4, congenital
Test Details

AMACR gene bile acid synthesis defect type 4, congenital is a rare genetic disorder that affects the production of bile acids in the body. Bile acids are important for the digestion and absorption of dietary fats. This condition is caused by mutations in the AMACR gene, which provides instructions for making an enzyme called alpha-methylacyl-CoA racemase.

A next-generation sequencing (NGS) genetic test can be used to diagnose this condition. NGS is a high-throughput DNA sequencing technology that allows for the simultaneous sequencing of many genes or the entire genome. In the case of AMACR gene bile acid synthesis defect type 4, congenital, the NGS test would specifically look for mutations in the AMACR gene.

The NGS test involves collecting a sample of DNA, typically from a blood sample, and sequencing the DNA to identify any mutations or variations in the AMACR gene. This information can help confirm a diagnosis of AMACR gene bile acid synthesis defect type 4, congenital and guide treatment and management options for affected individuals.

It’s important to note that genetic testing should be performed and interpreted by qualified healthcare professionals who specialize in genetics. They can provide accurate diagnosis, counseling, and guidance for individuals and families affected by this condition.

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