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ABCB11 Gene Cholestasis progressive intrahepatic type 2 Genetic Test

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The ABCB11 Gene Cholestasis Progressive Intraheptic Type 2 Genetic Test is a specialized diagnostic tool offered by DNA Labs UAE, designed to identify mutations in the ABCB11 gene that are associated with Progressive Familial Intrahepatic Cholestasis Type 2 (PFIC2). This condition is a rare genetic liver disorder characterized by early-onset cholestasis, which can lead to liver damage and, in severe cases, liver failure. The ABCB11 gene plays a critical role in bile acid transport, and mutations in this gene can disrupt the flow of bile, causing a buildup of bile acids in the liver.

The test is crucial for early diagnosis and management of the condition, allowing for timely intervention and potentially preventing severe complications. It involves collecting a DNA sample, usually through a blood draw, and analyzing it for specific genetic mutations associated with PFIC2.

The cost of the test is 4400 AED, reflecting the specialized nature of the analysis and the sophisticated technology employed in detecting the genetic mutations. Conducted at DNA Labs UAE, a facility known for its advanced genetic testing capabilities, the test offers a reliable resource for patients and families affected by this rare condition, enabling them to make informed decisions about their health and treatment options.

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ABCB11 Gene Cholestasis progressive intrahepatic type 2 Genetic Test

Components: ABCB11 Gene Cholestasis progressive intrahepatic type 2 Genetic Test

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 ABCB11 Gene Cholestasis progressive intrahepatic type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Cholestasis progressive intrahepatic type 2.

Test Details

ABCB11 Gene Cholestasis progressive intrahepatic type 2 NGS Genetic Test is a genetic test that focuses on the ABCB11 gene, which is associated with a specific type of progressive intrahepatic cholestasis called type 2.

This genetic test uses Next Generation Sequencing (NGS) technology to analyze the DNA sequence of the ABCB11 gene and identify any mutations or variations that may be present.

Progressive intrahepatic cholestasis type 2 is a rare genetic disorder characterized by impaired bile flow within the liver, leading to the buildup of bile acids and other substances in the liver cells. This can result in liver damage and various symptoms such as jaundice, itching, and poor growth.

The ABCB11 gene provides instructions for producing a protein called bile salt export pump (BSEP), which is responsible for transporting bile acids out of liver cells and into the bile ducts. Mutations in the ABCB11 gene can disrupt the function of the BSEP protein, leading to the development of progressive intrahepatic cholestasis type 2.

The NGS genetic test for ABCB11 gene cholestasis progressive intrahepatic type 2 involves obtaining a DNA sample, typically through a blood or saliva sample, from the individual being tested. The DNA is then sequenced using NGS technology to analyze the entire coding region of the ABCB11 gene. Any mutations or variations in the gene sequence can be identified and analyzed to determine their potential impact on BSEP function.

The results of this genetic test can help healthcare professionals make a definitive diagnosis of progressive intrahepatic cholestasis type 2 and provide appropriate management and treatment strategies for affected individuals. Additionally, this test can also be used for carrier testing in family members of affected individuals to assess their risk of passing on the condition to future generations.

Test Name ABCB11 Gene Cholestasis progressive intrahepatic type 2 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 ABCB11 Gene Cholestasis progressive intrahepatic type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Cholestasis progressive intrahepatic type 2
Test Details

ABCB11 Gene Cholestasis progressive intrahepatic type 2 NGS Genetic Test is a genetic test that focuses on the ABCB11 gene, which is associated with a specific type of progressive intrahepatic cholestasis called type 2. This genetic test uses Next Generation Sequencing (NGS) technology to analyze the DNA sequence of the ABCB11 gene and identify any mutations or variations that may be present.

Progressive intrahepatic cholestasis type 2 is a rare genetic disorder characterized by impaired bile flow within the liver, leading to the buildup of bile acids and other substances in the liver cells. This can result in liver damage and various symptoms such as jaundice, itching, and poor growth.

The ABCB11 gene provides instructions for producing a protein called bile salt export pump (BSEP), which is responsible for transporting bile acids out of liver cells and into the bile ducts. Mutations in the ABCB11 gene can disrupt the function of the BSEP protein, leading to the development of progressive intrahepatic cholestasis type 2.

The NGS genetic test for ABCB11 gene cholestasis progressive intrahepatic type 2 involves obtaining a DNA sample, typically through a blood or saliva sample, from the individual being tested. The DNA is then sequenced using NGS technology to analyze the entire coding region of the ABCB11 gene. Any mutations or variations in the gene sequence can be identified and analyzed to determine their potential impact on BSEP function.

The results of this genetic test can help healthcare professionals make a definitive diagnosis of progressive intrahepatic cholestasis type 2 and provide appropriate management and treatment strategies for affected individuals. Additionally, this test can also be used for carrier testing in family members of affected individuals to assess their risk of passing on the condition to future generations.

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