Carnitine palmitoyltransferase 2 (CPT2) deficiency is a rare genetic disorder that affects the body’s ability to metabolize certain types of fats. This condition, particularly in its lethal neonatal form, is a severe metabolic disorder that can lead to serious health complications and, if untreated, can be fatal shortly after birth. DNA Labs UAE offers a comprehensive genetic test for the CPT2 gene to help identify this condition early on, providing crucial information for managing the disease.
Symptoms of CPT2 Gene Carnitine Palmitoyltransferase 2 Deficiency
The symptoms of CPT2 deficiency can vary widely among affected individuals, with the lethal neonatal form being the most severe. This form of the deficiency typically presents symptoms shortly after birth, which may include:
- Severe hypoglycemia (low blood sugar levels)
- Cardiomyopathy (a disease of the heart muscle that makes it harder for the heart to pump blood to the rest of the body)
- Liver dysfunction
- Muscle weakness
- Respiratory distress
- Seizures
- High levels of ammonia in the blood (hyperammonemia)
- Fatty liver disease
These symptoms are the result of the body’s inability to properly metabolize long-chain fatty acids, which are crucial for energy production, especially in the heart, liver, and muscles. Early detection and management are key to improving outcomes for affected infants.
Genetic Testing for CPT2 Deficiency at DNA Labs UAE
DNA Labs UAE offers a specialized genetic test for diagnosing CPT2 deficiency, specifically targeting the lethal neonatal form. This test is crucial for early detection, which can significantly impact the management and outcome of the condition. The test involves analyzing the DNA for mutations in the CPT2 gene that are known to cause the disorder.
The cost of the genetic test for CPT2 deficiency at DNA Labs UAE is 4400 AED. While the price may seem high, the value of the information it provides cannot be overstated. Early diagnosis through genetic testing can lead to timely interventions that may save lives and improve the quality of life for those affected.
For more information about the CPT2 gene carnitine palmitoyltransferase 2 deficiency lethal neonatal genetic test, please visit DNA Labs UAE.
Conclusion
CPT2 deficiency, particularly in its lethal neonatal form, is a serious condition that requires early detection and intervention. The symptoms can be severe and life-threatening, but with early and accurate diagnosis, appropriate treatments can be administered to manage the condition. DNA Labs UAE is at the forefront of providing the necessary genetic testing to detect this condition early, offering hope and support to affected families. The genetic test for CPT2 deficiency is a critical tool in the fight against this challenging disorder, and at 4400 AED, it is an investment in the health and well-being of those at risk.
