AKR1D1 Gene Bile Acid Synthesis Defect Type 2 Congenital Genetic Test
Welcome to DNA Labs UAE, your trusted genetic testing provider. In this blog, we will discuss the AKR1D1 gene bile acid synthesis defect type 2 congenital genetic test. This test is designed to identify genetic variations or mutations in the AKR1D1 gene that can lead to bile acid synthesis defect type 2, congenital (BASD2).
Test Details
The AKR1D1 gene is responsible for encoding an enzyme called 3-oxo-5-beta-steroid 4-dehydrogenase, which plays a crucial role in bile acid synthesis. Bile acids are essential for the digestion and absorption of dietary fats. A defect in the AKR1D1 gene can lead to BASD2, a condition characterized by impaired bile acid synthesis, accumulation of toxic intermediates, and a deficiency of certain bile acids.
Test Components and Price
The AKR1D1 gene bile acid synthesis defect type 2 congenital genetic test is priced at 4400.0 AED. The test requires a blood sample for analysis.
Report Delivery
After the sample is collected, the report will be delivered within 3 to 4 weeks. Our team at DNA Labs UAE ensures accurate and timely reporting to provide you with the necessary information for diagnosis and treatment.
Method and Test Type
The AKR1D1 gene bile acid synthesis defect type 2 congenital genetic test utilizes NGS (Next-Generation Sequencing) technology. NGS allows for the simultaneous analysis of multiple genes to identify genetic variations or mutations. In the case of AKR1D1 gene defects, NGS genetic testing can help identify specific mutations or variations responsible for causing BASD2.
Doctor and Test Department
The AKR1D1 gene bile acid synthesis defect type 2 congenital genetic test can be ordered by a general physician. The test is conducted in our Genetics department, where our expert team ensures accurate analysis and interpretation of the results.
Pre Test Information
Prior to the AKR1D1 gene bile acid synthesis defect type 2 congenital genetic test, it is important to gather the clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected by BASD2. This information aids in the accurate diagnosis and appropriate treatment planning.
Conclusion
The AKR1D1 gene bile acid synthesis defect type 2 congenital genetic test offered by DNA Labs UAE is a valuable tool for diagnosing individuals with BASD2. By identifying specific genetic mutations or variations, this test provides important information for genetic counseling and potential treatment options. Trust DNA Labs UAE for reliable and accurate genetic testing services.
| Test Name | AKR1D1 Gene Bile acid synthesis defect type 2 congenital 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 AKR1D1 Gene Bile acid synthesis defect type 2, congenital NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Bile acid synthesis defect type 2, congenital |
| Test Details |
The AKR1D1 gene is responsible for encoding an enzyme called 3-oxo-5-beta-steroid 4-dehydrogenase, which plays a crucial role in bile acid synthesis. Bile acids are essential for the digestion and absorption of dietary fats. A defect in the AKR1D1 gene can lead to a condition known as bile acid synthesis defect type 2, congenital (BASD2). This condition is characterized by impaired bile acid synthesis, resulting in the accumulation of toxic intermediates and a deficiency of certain bile acids. NGS (Next-Generation Sequencing) genetic testing is a technique used to analyze multiple genes simultaneously to identify genetic variations or mutations. In the case of AKR1D1 gene defects, NGS genetic testing can help identify specific mutations or variations in the gene that are responsible for causing BASD2. By identifying the specific genetic mutation, NGS genetic testing can aid in diagnosing individuals with BASD2 and provide important information for genetic counseling and potential treatment options. |
