Short Description

NGS genetic DNA test detecets for variant and mutation detection in LPL gene for Hyperlipoproteinemia type 1

PreTest Information

Clinical History of Patient who is going for LPL Gene Hyperlipoproteinemia type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Hyperlipoproteinemia type 1

Detail Description

LPL Gene Hyperlipoproteinemia Type 1 NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

Hyperlipoproteinemia type 1 is a rare genetic disorder caused by a mutation in the LPL gene. This gene is responsible for producing an enzyme called lipoprotein lipase, which is essential for breaking down fats in the body. When the LPL gene is mutated, lipoprotein lipase is not produced, leading to the buildup of fats in the bloodstream.

Hyperlipoproteinemia type 1 can cause a range of symptoms, including:

• Abdominal pain
• Pancreatitis
• Enlarged liver and spleen
• Elevated levels of triglycerides and cholesterol in the blood
• Yellowing of the skin and eyes (jaundice)

If you are experiencing these symptoms, it is important to seek medical attention. Your doctor may perform a blood test to check your lipid levels and may refer you to a genetic specialist for further evaluation.

The diagnosis of hyperlipoproteinemia type 1 is typically made through genetic testing. Next-generation sequencing (NGS) genetic DNA testing is a highly accurate and reliable way to detect mutations in the LPL gene. This test involves analyzing your DNA to identify any changes or mutations in the LPL gene that may be causing your symptoms.

The cost of an NGS genetic DNA test for hyperlipoproteinemia type 1 varies depending on the laboratory and location. In India, the cost of this test is typically around INR 20,000.

If you have been diagnosed with hyperlipoproteinemia type 1, there are several treatment options available. These may include a low-fat diet, exercise, and medications to help lower your lipid levels. Your doctor may also recommend regular monitoring of your lipid levels to ensure that your treatment is effective.

In conclusion, hyperlipoproteinemia type 1 is a rare genetic disorder that can cause a range of symptoms. If you are experiencing any of these symptoms, it is important to seek medical attention and undergo genetic testing to determine if you have a mutation in the LPL gene. While the cost of NGS genetic DNA testing for hyperlipoproteinemia type 1 may vary, it is a highly accurate and reliable way to diagnose this condition and develop an effective treatment plan.

For more information on NGS genetic DNA testing for hyperlipoproteinemia type 1 and other genetic disorders, contact DNA Labs India.