Carnitine palmitoyltransferase 2 (CPT2) deficiency is a rare genetic disorder that affects the body’s ability to metabolize long-chain fatty acids. This metabolic condition, particularly in its infantile form, can lead to severe and potentially life-threatening symptoms if not diagnosed and managed promptly. DNA Labs UAE offers a comprehensive genetic test for the CPT2 gene to identify this deficiency early in life, allowing for timely interventions and management strategies.
Understanding CPT2 Deficiency
CPT2 deficiency disrupts the normal process of converting fats into energy, particularly during periods of fasting or illness. This condition is inherited in an autosomal recessive pattern, meaning a child must inherit two copies of the mutated gene, one from each parent, to be affected. The severity of the condition can vary, with the infantile form being the most severe.
Symptoms of Infantile CPT2 Deficiency
The symptoms of infantile CPT2 deficiency usually manifest shortly after birth and can include a range of metabolic and muscular issues. Key symptoms to be aware of include:
- Severe hypoglycemia (low blood sugar levels) without ketosis
- Cardiomyopathy (a disease of the heart muscle that makes it harder for the heart to pump blood to the rest of the body)
- Liver enlargement (hepatomegaly)
- Muscle weakness
- Respiratory distress
- Fever
- Seizures
- Fatigue and lethargy
- Potentially life-threatening heart and liver problems
Early detection and management of these symptoms are crucial in preventing serious complications and improving the quality of life for affected infants.
Genetic Testing for CPT2 Deficiency at DNA Labs UAE
DNA Labs UAE offers a specialized genetic test for the CPT2 gene to help identify this deficiency in infants. This test is crucial for families with a history of the condition or for infants showing symptoms suggestive of metabolic disorders. The test involves a simple blood draw from the infant, and the sample is then analyzed for mutations in the CPT2 gene that are known to cause the deficiency.
Cost of the Genetic Test
The cost of the CPT2 gene carnitine palmitoyltransferase 2 deficiency infantile genetic test at DNA Labs UAE is 4400 AED. While the cost may seem significant, early diagnosis and intervention can prevent severe complications and improve outcomes for affected infants.
Why Choose DNA Labs UAE?
DNA Labs UAE is committed to providing accurate, timely, and comprehensive genetic testing services. Our state-of-the-art facilities and experienced team of geneticists and healthcare professionals ensure that each test is conducted with the highest standards of quality and care. By choosing DNA Labs UAE for your genetic testing needs, you are taking an important step towards safeguarding the health and well-being of your child.
Conclusion
Infantile CPT2 deficiency is a serious condition that requires early diagnosis and management. Recognizing the symptoms and understanding the importance of genetic testing can be the first steps towards ensuring the best possible outcomes for affected infants. DNA Labs UAE offers a reliable and comprehensive genetic test for CPT2 deficiency, providing families with the knowledge and support they need during this challenging time.
For more information on the CPT2 gene carnitine palmitoyltransferase 2 deficiency infantile genetic test, please visit our website.
