Short Description

NGS genetic DNA test detecets for variant and mutation detection in CPT1A gene for Carnitine palmitoyltransferase 1A deficiency

PreTest Information

Clinical History of Patient who is going for CPT1A Gene Carnitine palmitoyltransferase 1A deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Carnitine palmitoyltransferase 1A deficiency

Detail Description

CPT1A Gene Carnitine Palmitoyltransferase 1A Deficiency NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

CPT1A gene is responsible for producing an enzyme called carnitine palmitoyltransferase 1A. This enzyme helps in the breakdown of fatty acids to provide energy to the body. However, some individuals may have a deficiency of this enzyme, which can lead to a condition known as CPT1A deficiency. This condition can be diagnosed through a genetic DNA test, which uses next-generation sequencing (NGS) technology. The cost of this test is INR 20,000.

Symptoms of CPT1A Deficiency

The symptoms of CPT1A deficiency can vary depending on the severity of the condition. Some common symptoms include:

• Low blood sugar levels
• Enlarged liver
• Muscle weakness
• Fatigue
• Nausea and vomiting
• Abdominal pain

In severe cases, CPT1A deficiency can lead to coma or even death.

Diagnosis of CPT1A Deficiency

CPT1A deficiency can be diagnosed through a genetic DNA test, which uses NGS technology. This test looks for mutations in the CPT1A gene, which can cause a deficiency of the carnitine palmitoyltransferase 1A enzyme. The test can be performed on a blood or saliva sample.

If you or your child is experiencing symptoms of CPT1A deficiency, it is important to speak with a healthcare provider as soon as possible. Early diagnosis and treatment can help prevent serious complications.

Cost of CPT1A Deficiency NGS Genetic DNA Test

The cost of the CPT1A deficiency NGS genetic DNA test is INR 20,000. This test is not typically covered by insurance, so it is important to budget for this expense.

Conclusion

CPT1A deficiency is a rare genetic condition that can cause a variety of symptoms, including low blood sugar, muscle weakness, and fatigue. If you or your child is experiencing these symptoms, it is important to speak with a healthcare provider as soon as possible. A genetic DNA test using NGS technology can diagnose CPT1A deficiency, and the cost of this test is INR 20,000. Early diagnosis and treatment can help prevent serious complications and improve the quality of life for individuals with this condition.

If you suspect that you may have CPT1A deficiency, do not hesitate to contact DNA Labs India for the NGS genetic DNA test. They offer fast and accurate testing services at an affordable cost. Get in touch with them today to schedule an appointment.