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. |
