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ATP8B1 Gene Cholestasis progressive intrahepatic type 1 Genetic Test Cost

Original price was: 5,600 د.إ.Current price is: 3,200 د.إ.

-43%

The ATP8B1 gene plays a crucial role in maintaining the proper balance and flow of bile acids within the liver. Mutations in this gene can lead to a rare condition known as Progressive Familial Intrahepatic Cholestasis Type 1 (PFIC1), characterized by impaired bile flow (cholestasis) and progressive liver disease. This condition typically presents in infancy or early childhood and can lead to severe liver damage if not diagnosed and managed appropriately.

Genetic testing for mutations in the ATP8B1 gene is a critical tool in diagnosing PFIC1. DNA Labs UAE offers a specialized test for this purpose, providing a reliable means of identifying the genetic alterations responsible for the condition. The test involves analyzing the patient’s DNA sample for specific mutations in the ATP8B1 gene that are known to cause PFIC1.

The cost of the ATP8B1 gene cholestasis progressive intraheptic type 1 genetic test at DNA Labs UAE is 3200 AED. This test is invaluable for families with a history of PFIC1, as it allows for early diagnosis and intervention, potentially mitigating the severe outcomes associated with this condition. Early diagnosis can also aid in family planning and provide essential information for the management of affected individuals.

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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.

SKU: TEST-2219