Short Description

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

PreTest Information

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

Detail Description

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

Carnitine palmitoyltransferase 2 (CPT2) deficiency is a rare genetic disorder that affects the body's ability to break down fats into energy. It is caused by a mutation in the CPT2 gene, which is responsible for producing an enzyme that helps transport fatty acids into the mitochondria, the energy powerhouse of the cell.

Symptoms of CPT2 Deficiency

The symptoms of CPT2 deficiency usually appear during infancy or early childhood and may include:

• Low blood sugar (hypoglycemia)
• Muscle weakness and pain
• Enlarged liver (hepatomegaly)
• Seizures
• Coma
• Sudden death

The severity of symptoms can vary from person to person and can be triggered by fasting, illness, or exercise.

Diagnosis of CPT2 Deficiency

CPT2 deficiency can be diagnosed through a blood test that measures the levels of certain enzymes in the blood. Genetic testing can also be done to look for mutations in the CPT2 gene.

If a newborn is suspected of having CPT2 deficiency, a heel-stick blood test can be done to screen for the disorder. If the test comes back positive, further testing will be done to confirm the diagnosis.

NGS Genetic DNA Test Cost

Next-generation sequencing (NGS) is a type of genetic test that can be used to diagnose CPT2 deficiency. The cost of an NGS genetic DNA test for CPT2 deficiency in India is approximately INR 20,000.

This test is performed using a small blood sample or a cheek swab and can detect mutations in the CPT2 gene that may be causing the disorder.

Conclusion

CPT2 deficiency is a rare genetic disorder that can cause serious health problems if left untreated. If you or your child is experiencing symptoms of CPT2 deficiency, it is important to seek medical attention right away. Diagnosis of CPT2 deficiency can be done through a blood test or genetic testing, and NGS genetic DNA testing is available in India at a cost of approximately INR 20,000.

Early diagnosis and treatment can help manage the symptoms of CPT2 deficiency and prevent complications.