Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disorder that affects electrolyte balance and blood pressure regulation. It is characterized by the body’s inability to respond properly to aldosterone, a hormone that helps regulate sodium, potassium, and water levels in the body. This condition can lead to various symptoms and complications if not diagnosed and managed appropriately. One of the genes associated with the autosomal recessive form of this condition is SCNN1G. Understanding the symptoms associated with mutations in the SCNN1G gene is crucial for early diagnosis and treatment. DNA Labs UAE offers a comprehensive genetic test for this condition, aiding in the accurate diagnosis and management of affected individuals.
Symptoms of SCNN1G Gene Pseudohypoaldosteronism Type 1
Individuals with mutations in the SCNN1G gene may exhibit a range of symptoms, primarily due to the imbalance of electrolytes in their bodies. Some of the most common symptoms include:
- Hyponatremia (low sodium levels in the blood)
- Hyperkalemia (high potassium levels in the blood)
- Metabolic acidosis (increased acidity in the blood)
- Dehydration
- Failure to thrive in infants
- Excessive salt loss in sweat, urine, and stool
- Respiratory distress due to fluid in the lungs
- Recurrent lung infections
It is important to note that the severity of symptoms can vary significantly among affected individuals. Some may experience mild symptoms, while others may face life-threatening complications if not properly managed.
Importance of Genetic Testing for SCNN1G Gene Mutations
Genetic testing plays a pivotal role in the diagnosis and management of PHA1. By identifying mutations in the SCNN1G gene, healthcare providers can confirm the diagnosis of PHA1, differentiate it from other similar conditions, and tailor treatment plans to the specific needs of the patient. Furthermore, genetic testing can provide valuable information for family planning and the assessment of risk in future pregnancies.
DNA Labs UAE Genetic Test for SCNN1G Gene Mutations
DNA Labs UAE offers a specialized genetic test for the SCNN1G gene, helping to diagnose Pseudohypoaldosteronism type 1 autosomal recessive. This test is crucial for individuals displaying symptoms of PHA1 or those with a family history of the condition. By utilizing advanced genetic sequencing technologies, DNA Labs UAE ensures accurate and reliable results.
Test Cost
The cost of the SCNN1G gene Pseudohypoaldosteronism type 1 autosomal recessive genetic test at DNA Labs UAE is 4400 AED. This cost is an investment in accurate diagnosis and the potential for improved health outcomes through personalized treatment strategies.
Conclusion
Understanding the symptoms associated with SCNN1G gene mutations and the availability of genetic testing are crucial steps in the effective management of Pseudohypoaldosteronism type 1. DNA Labs UAE is committed to providing comprehensive genetic testing services, including the SCNN1G gene test, to aid in the diagnosis and treatment of this condition. For more information and to schedule a test, please visit our website.
