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Cholestasis is a liver condition that impairs the flow of bile from the liver to the intestines, leading to its accumulation in the liver. This can cause severe liver damage if not diagnosed and treated early. One of the genetic causes of infantile cholestasis is mutations in the NR1H4 gene. Understanding the symptoms and the importance of genetic testing for this condition is crucial for early intervention and management.
Symptoms of NR1H4 Gene Cholestasis
The symptoms of NR1H4 gene-related cholestasis usually appear in the first few weeks or months of an infant’s life. These symptoms may include:
- Jaundice: A yellowing of the skin and the whites of the eyes caused by the accumulation of bilirubin.
- Dark urine: Caused by the presence of bilirubin in the urine.
- Pale stools: Due to the lack of bile in the intestines, which affects the color of the stool.
- Pruritus: Severe itching resulting from the accumulation of bile salts in the skin.
- Failure to thrive: Difficulty gaining weight or growing at a normal rate.
- Enlarged liver: Felt as a mass under the ribs on the right side.
These symptoms are indicative of a potential liver disorder and should prompt further investigation, including genetic testing for NR1H4 gene mutations.
Importance of NR1H4 Related Genetic Test
Genetic testing for mutations in the NR1H4 gene is crucial for the diagnosis of NR1H4 gene-related cholestasis. This test can confirm the diagnosis and help in understanding the severity of the condition. Early diagnosis through genetic testing allows for timely intervention, which can significantly improve the prognosis. Furthermore, it provides valuable information for family planning and the assessment of the risk of recurrence in future pregnancies.
NR1H4 Related Genetic Test at DNA Labs UAE
DNA Labs UAE offers a comprehensive genetic test for diagnosing NR1H4 gene-related cholestasis. This test is designed to detect mutations in the NR1H4 gene that are associated with the condition. The cost of the test is 4400 AED, which includes a detailed analysis and interpretation of the results by our expert geneticists.
For more information or to schedule a test, please visit our website at DNA Labs UAE – NR1H4 Gene Cholestasis Infantile NR1H4 Related Genetic Test.
Early detection and intervention are key to managing NR1H4 gene-related cholestasis effectively. If your infant shows any of the symptoms mentioned above, consider reaching out to DNA Labs UAE for consultation and testing. Our team is dedicated to providing accurate diagnoses and support for families affected by genetic conditions.
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Symptoms of NR1H4 Gene Cholestasis
The symptoms of NR1H4 gene-related cholestasis usually appear in the first few weeks or months of an infant’s life. These symptoms may include:
- Jaundice: A yellowing of the skin and the whites of the eyes caused by the accumulation of bilirubin.
- Dark urine: Caused by the presence of bilirubin in the urine.
- Pale stools: Due to the lack of bile in the intestines, which affects the color of the stool.
- Pruritus: Severe itching resulting from the accumulation of bile salts in the skin.
- Failure to thrive: Difficulty gaining weight or growing at a normal rate.
- Enlarged liver: Felt as a mass under the ribs on the right side.
These symptoms are indicative of a potential liver disorder and should prompt further investigation, including genetic testing for NR1H4 gene mutations.
Importance of NR1H4 Related Genetic Test
Genetic testing for mutations in the NR1H4 gene is crucial for the diagnosis of NR1H4 gene-related cholestasis. This test can confirm the diagnosis and help in understanding the severity of the condition. Early diagnosis through genetic testing allows for timely intervention, which can significantly improve the prognosis. Furthermore, it provides valuable information for family planning and the assessment of the risk of recurrence in future pregnancies.
NR1H4 Related Genetic Test at DNA Labs UAE
DNA Labs UAE offers a comprehensive genetic test for diagnosing NR1H4 gene-related cholestasis. This test is designed to detect mutations in the NR1H4 gene that are associated with the condition. The cost of the test is 4400 AED, which includes a detailed analysis and interpretation of the results by our expert geneticists.
For more information or to schedule a test, please visit our website at DNA Labs UAE – NR1H4 Gene Cholestasis Infantile NR1H4 Related Genetic Test.
Early detection and intervention are key to managing NR1H4 gene-related cholestasis effectively. If your infant shows any of the symptoms mentioned above, consider reaching out to DNA Labs UAE for consultation and testing. Our team is dedicated to providing accurate diagnoses and support for families affected by genetic conditions.
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