Understanding the symptoms and underlying genetic causes of certain diseases is crucial for effective diagnosis and management. Among these, Cholestasis of benign recurrent intrahepatic type 2, caused by mutations in the ABCB11 gene, is a condition that requires particular attention. DNA Labs UAE offers a comprehensive genetic test for this condition, aimed at providing accurate diagnoses for individuals experiencing symptoms related to this genetic disorder.
The ABCB11 gene plays a vital role in the liver, coding for the bile salt export pump (BSEP) that is essential for bile flow from the liver to the gallbladder. Mutations in the ABCB11 gene can lead to a reduced function or absence of BSEP, causing a buildup of bile in the liver, a condition known as Cholestasis. This particular type of Cholestasis, benign recurrent intrahepatic of type 2, is characterized by episodes of liver dysfunction that may appear in infancy or early childhood and can vary in severity.
Symptoms associated with ABCB11 gene mutations and Cholestasis of benign recurrent intrahepatic type 2 include:
- Jaundice (yellowing of the skin and eyes)
- Intense itching
- Dark urine
- Pale stools
- Fatigue
- Abdominal pain
These symptoms can fluctuate over time, with periods of remission and exacerbation. It’s crucial for individuals experiencing these symptoms to undergo genetic testing to confirm a diagnosis of ABCB11 gene-related Cholestasis. DNA Labs UAE offers a specialized ABCB11 Gene Cholestasis benign recurrent intrahepatic type 2 Genetic Test to aid in this diagnosis.
The cost of the test is 4400 AED, which includes the collection of a blood sample, the genetic analysis of the ABCB11 gene, and a comprehensive report detailing the findings. This test is invaluable for individuals seeking a definitive diagnosis, as it can guide the management and treatment of the condition, helping to mitigate the symptoms and improve the quality of life.
Early diagnosis through genetic testing is critical in managing benign recurrent intrahepatic Cholestasis type 2 effectively. It allows for the implementation of targeted treatments that can alleviate symptoms, prevent complications, and improve outcomes for affected individuals. The ABCB11 gene test provided by DNA Labs UAE is a key step in this process, offering hope and solutions to those affected by this genetic condition.
For more information on the ABCB11 Gene Cholestasis benign recurrent intrahepatic type 2 Genetic Test and to schedule a test, please visit DNA Labs UAE.
