ATP8B1 Gene Cholestasis progressive intrahepatic type 1 Genetic Test
Test Name: ATP8B1 Gene Cholestasis progressive intrahepatic type 1 Genetic Test
Components: ATP8B1 gene testing
Price: 3200.0 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 ATP8B1 Gene Cholestasis progressive intrahepatic type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Cholestasis progressive intrahepatic type 1.
Test Details
The ATP8B1 gene is responsible for providing instructions to create a protein called ATPase class I type 8B member 1. This protein is involved in transporting certain lipids (fats) across cell membranes in the liver.
Mutations in the ATP8B1 gene can lead to a condition called progressive intrahepatic cholestasis type 1 (also known as Byler disease or Byler syndrome). This is a rare genetic disorder characterized by impaired bile flow, leading to the accumulation of bile acids in the liver. This buildup can cause liver damage and result in symptoms such as jaundice, itching, and poor growth.
NGS (next-generation sequencing) genetic testing is a type of genetic test that uses advanced sequencing technology to examine multiple genes simultaneously. In the case of ATP8B1 gene cholestasis progressive intrahepatic type 1, NGS genetic testing can be used to identify mutations or variations in the ATP8B1 gene that may be responsible for the condition.
By identifying these genetic variations, NGS testing can help with the diagnosis of progressive intrahepatic cholestasis type 1 and assist in determining appropriate treatment options and management strategies for affected individuals and their families.
Test Name | ATP8B1 Gene Cholestasis progressive intrahepatic type 1 Genetic Test |
---|---|
Components | |
Price | 3200.0 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 ATP8B1 Gene Cholestasis progressive intrahepatic type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Cholestasis progressive intrahepatic type 1 |
Test Details |
The ATP8B1 gene is responsible for providing instructions to create a protein called ATPase class I type 8B member 1. This protein is involved in transporting certain lipids (fats) across cell membranes in the liver. Mutations in the ATP8B1 gene can lead to a condition called progressive intrahepatic cholestasis type 1 (also known as Byler disease or Byler syndrome). This is a rare genetic disorder characterized by impaired bile flow, leading to the accumulation of bile acids in the liver. This buildup can cause liver damage and result in symptoms such as jaundice, itching, and poor growth. NGS (next-generation sequencing) genetic testing is a type of genetic test that uses advanced sequencing technology to examine multiple genes simultaneously. In the case of ATP8B1 gene cholestasis progressive intrahepatic type 1, NGS genetic testing can be used to identify mutations or variations in the ATP8B1 gene that may be responsible for the condition. By identifying these genetic variations, NGS testing can help with the diagnosis of progressive intrahepatic cholestasis type 1 and assist in determining appropriate treatment options and management strategies for affected individuals and their families. |