Short Description

NGS genetic DNA test detecets for variant and mutation detection in PNPLA2 gene for Neutral lipid storage disease with myopathy

PreTest Information

Clinical History of Patient who is going for PNPLA2 Gene Neutral lipid storage disease with myopathy NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PNPLA2 Gene Neutral lipid storage disease with myopathy

Detail Description

PNPLA2 Gene Neutral Lipid Storage Disease with Myopathy: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Neutral lipid storage disease with myopathy is a rare genetic disorder that affects the body's ability to break down fats, resulting in the accumulation of lipids in different tissues and organs. This disease is caused by mutations in the PNPLA2 gene, which encodes for a protein called adipose triglyceride lipase (ATGL).

ATGL is responsible for the breakdown of triglycerides, a type of fat found in the body. When there are mutations in the PNPLA2 gene, ATGL is not produced in sufficient amounts or is dysfunctional, leading to the accumulation of triglycerides in different tissues, including the skeletal muscles, heart, liver, and pancreas.

Symptoms of PNPLA2 Gene Neutral Lipid Storage Disease with Myopathy

The symptoms of PNPLA2 gene neutral lipid storage disease with myopathy can vary depending on the severity of the disease and the organs affected. Common symptoms include:

• Muscle weakness and wasting
• Difficulty walking and standing
• Pain in the muscles
• Enlarged liver (hepatomegaly)
• Enlarged heart (cardiomegaly)
• Diabetes
• High levels of fats in the blood (hyperlipidemia)

The symptoms of neutral lipid storage disease with myopathy usually start in childhood or early adulthood and progressively worsen over time.

Diagnosis of PNPLA2 Gene Neutral Lipid Storage Disease with Myopathy

PNPLA2 gene neutral lipid storage disease with myopathy is diagnosed through a combination of clinical evaluation, imaging tests, and genetic testing. Doctors may perform a physical exam to assess muscle strength and look for signs of organ enlargement. They may also order imaging tests, such as magnetic resonance imaging (MRI) or computed tomography (CT) scans, to assess the extent of tissue damage.

Genetic testing is the most definitive way to diagnose PNPLA2 gene neutral lipid storage disease with myopathy. This involves analyzing a sample of the patient's DNA to look for mutations in the PNPLA2 gene. NGS genetic DNA testing is a type of genetic testing that uses next-generation sequencing technology to analyze multiple genes at once. This can help doctors identify mutations in the PNPLA2 gene more quickly and accurately.

NGS Genetic DNA Test Cost for PNPLA2 Gene Neutral Lipid Storage Disease with Myopathy

The cost of NGS genetic DNA testing for PNPLA2 gene neutral lipid storage disease with myopathy can vary depending on the laboratory and location. In India, the cost of NGS genetic DNA testing for this disease is typically around INR 20,000.

It is important to note that genetic testing may not be covered by insurance, and patients should check with their insurance provider before undergoing testing.

Conclusion

PNPLA2 gene neutral lipid storage disease with myopathy is a rare genetic disorder that can cause muscle weakness, organ enlargement, and other symptoms. Diagnosis usually involves a combination of clinical evaluation, imaging tests, and genetic testing. NGS genetic DNA testing can help identify mutations in the PNPLA2 gene more quickly and accurately. The cost of NGS genetic DNA testing in India is typically around INR 20,000.

If you or a loved one is experiencing symptoms of PNPLA2 gene neutral lipid storage disease with myopathy, it is important to speak with a healthcare provider as soon as possible to receive a proper diagnosis and treatment plan.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for PNPLA2 Gene Neutral lipid storage disease with myopathy NGS Genetic DNA Test