HSD3B7 Gene Bile Acid Synthesis Defect Type 1 Congenital Genetic Test
Cost: AED 4400.0
Introduction
The HSD3B7 gene is responsible for encoding an enzyme called 3-hydroxysteroid dehydrogenase type 7. This enzyme plays a crucial role in the synthesis of bile acids, which are essential for the digestion and absorption of dietary fats.
Genetic Test Details
The HSD3B7 Gene Bile Acid Synthesis Defect Type 1 Congenital Genetic Test is a diagnostic test offered by DNA Labs UAE. This test aims to identify mutations in the HSD3B7 gene that can lead to a bile acid synthesis defect type 1, also known as congenital bile acid synthesis defect.
Components
- Test Name: HSD3B7 Gene Bile Acid Synthesis Defect Type 1 Congenital Genetic Test
- Price: AED 4400.0
- 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
Prior to undergoing the HSD3B7 Gene Bile Acid Synthesis Defect Type 1 Congenital Genetic Test, it is recommended to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected with Bile acid synthesis defect type 1, congenital.
Symptoms and Diagnosis
Congenital bile acid synthesis defect is a rare genetic disorder characterized by impaired synthesis of bile acids. This can result in the accumulation of toxic intermediates and a deficiency of bile acids in the body. The lack of bile acids disrupts the normal process of fat digestion and absorption, leading to various symptoms such as jaundice, poor growth, liver disease, and malabsorption of fat-soluble vitamins.
Methodology
The HSD3B7 Gene Bile Acid Synthesis Defect Type 1 Congenital Genetic Test utilizes Next-generation sequencing (NGS) technology. NGS allows for the simultaneous analysis of multiple genes, providing a comprehensive assessment of the genetic variations associated with this condition.
Benefits
The HSD3B7 Gene Bile Acid Synthesis Defect Type 1 Congenital Genetic Test can help confirm the diagnosis, guide treatment decisions, and provide genetic counseling to affected individuals and their families.
| Test Name | HSD3B7 Gene Bile acid synthesis defect type 1 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 HSD3B7 Gene Bile acid synthesis defect type 1, congenital NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Bile acid synthesis defect type 1, congenital |
| Test Details |
The HSD3B7 gene is responsible for encoding an enzyme called 3-hydroxysteroid dehydrogenase type 7. This enzyme plays a crucial role in the synthesis of bile acids, which are essential for the digestion and absorption of dietary fats. Mutations in the HSD3B7 gene can lead to a bile acid synthesis defect type 1, also known as congenital bile acid synthesis defect. Congenital bile acid synthesis defect is a rare genetic disorder characterized by impaired synthesis of bile acids. This can result in the accumulation of toxic intermediates and a deficiency of bile acids in the body. The lack of bile acids disrupts the normal process of fat digestion and absorption, leading to various symptoms such as jaundice, poor growth, liver disease, and malabsorption of fat-soluble vitamins. Next-generation sequencing (NGS) genetic testing can be used to identify mutations in the HSD3B7 gene and diagnose congenital bile acid synthesis defect type 1. NGS allows for the simultaneous analysis of multiple genes, providing a comprehensive assessment of the genetic variations associated with this condition. This testing method can help confirm the diagnosis, guide treatment decisions, and provide genetic counseling to affected individuals and their families. |
