Short Description

NGS genetic DNA test detecets for variant and mutation detection in CPT2 gene for Carnitine palmitoyltransferase 2 deficiency, lethal neonatal

PreTest Information

Clinical History of Patient who is going for CPT2 Gene Carnitine palmitoyltransferase 2 deficiency, lethal neonatal NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Carnitine palmitoyltransferase 2 deficiency, lethal neonatal

Detail Description

Understanding CPT2 Gene Carnitine Palmitoyltransferase 2 Deficiency: Symptoms, Diagnosis, and Genetic DNA Test Cost

CPT2 gene carnitine palmitoyltransferase 2 deficiency is a rare genetic disorder that affects the body's ability to metabolize fats for energy. It is caused by mutations in the CPT2 gene, which provides instructions for making an enzyme that is involved in the breakdown of long-chain fatty acids. This deficiency can result in a range of symptoms, from mild to severe, and can be fatal in some cases.

Symptoms of CPT2 Gene Carnitine Palmitoyltransferase 2 Deficiency

Symptoms of CPT2 gene carnitine palmitoyltransferase 2 deficiency can vary widely depending on the severity of the condition. Some people may have no symptoms at all, while others may experience:

• Muscle weakness
• Low blood sugar
• Enlarged liver
• Heart problems
• Seizures
• Coma
• Death

Diagnosis of CPT2 Gene Carnitine Palmitoyltransferase 2 Deficiency

Diagnosis of CPT2 gene carnitine palmitoyltransferase 2 deficiency typically involves a combination of physical exams, medical history, and genetic testing. Blood tests can be used to measure levels of certain enzymes and assess liver and muscle function. Genetic testing can identify mutations in the CPT2 gene and confirm a diagnosis of the disorder.

Genetic DNA Test Cost for CPT2 Gene Carnitine Palmitoyltransferase 2 Deficiency

The cost of genetic DNA testing for CPT2 gene carnitine palmitoyltransferase 2 deficiency can vary depending on the laboratory conducting the test. At DNA Labs India, the cost of testing for this disorder is INR 20,000. This type of testing involves using next-generation sequencing (NGS) technology to analyze the patient's DNA and identify any mutations in the CPT2 gene.

Conclusion

CPT2 gene carnitine palmitoyltransferase 2 deficiency is a rare genetic disorder that can be fatal in some cases. Understanding the symptoms and diagnosis of this condition is important for early detection and treatment. Genetic DNA testing can help identify mutations in the CPT2 gene and confirm a diagnosis of the disorder. At DNA Labs India, we offer NGS genetic DNA testing for CPT2 gene carnitine palmitoyltransferase 2 deficiency at a cost of INR 20,000.

Mutations in the CPT2 gene can lead to a severe and life-threatening form of carnitine palmitoyltransferase 2 deficiency (CPT2 deficiency), known as lethal neonatal CPT2 deficiency. CPT2 is an enzyme that plays a critical role in the transport of long-chain fatty acids into the mitochondria for energy production. Defects in this enzyme can result in the inability to effectively metabolize fatty acids for energy, leading to a range of severe symptoms.