Short Description

NGS genetic DNA test detecets for variant and mutation detection in APOA5 gene for Hyperchylomicronemia type 5

PreTest Information

Clinical History of Patient who is going for APOA5 Gene Hyperchylomicronemia type 5 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Hyperchylomicronemia type 5

Detail Description

APOA5 Gene Hyperchylomicronemia Type 5 NGS Genetic DNA Test: Cost, Symptoms, and Diagnosis

DNA Labs India offers a comprehensive genetic testing panel that includes the APOA5 Gene Hyperchylomicronemia Type 5 NGS Genetic DNA Test. This test is designed to identify genetic mutations in the APOA5 gene that can cause hyperchylomicronemia type 5, a rare genetic disorder that affects lipid metabolism.

What is Hyperchylomicronemia Type 5?

Hyperchylomicronemia type 5, also known as familial chylomicronemia syndrome, is a rare genetic disorder that affects the body's ability to break down fats. This disorder is caused by mutations in the APOA5 gene, which encodes a protein that plays a key role in lipid metabolism.

Individuals with hyperchylomicronemia type 5 have high levels of chylomicrons in their blood, which are large lipoprotein particles that transport dietary fat from the intestines to other parts of the body. When these particles accumulate in the blood, they can cause a range of symptoms and complications.

Symptoms of Hyperchylomicronemia Type 5

The symptoms of hyperchylomicronemia type 5 can vary widely between individuals, but may include:

• Recurrent abdominal pain
• Pancreatitis
• Eruptive xanthomas (small bumps on the skin)
• Hepatosplenomegaly (enlarged liver and spleen)
• Lipemia retinalis (milky appearance of the retina)

These symptoms can be mild or severe, and may develop gradually over time or appear suddenly. It is important to note that not all individuals with mutations in the APOA5 gene will develop hyperchylomicronemia type 5.

Diagnosing Hyperchylomicronemia Type 5

Hyperchylomicronemia type 5 is diagnosed through a combination of clinical evaluation, laboratory testing, and genetic analysis. Your doctor may order blood tests to measure your lipid levels and look for signs of pancreatitis or other complications.

If your doctor suspects that you have hyperchylomicronemia type 5, they may recommend genetic testing to confirm the diagnosis. The APOA5 Gene Hyperchylomicronemia Type 5 NGS Genetic DNA Test offered by DNA Labs India is a comprehensive genetic panel that can identify mutations in the APOA5 gene.

Cost of the APOA5 Gene Hyperchylomicronemia Type 5 NGS Genetic DNA Test

The cost of the APOA5 Gene Hyperchylomicronemia Type 5 NGS Genetic DNA Test is INR 20,000. This test is performed using next-generation sequencing (NGS) technology, which allows for a more comprehensive analysis of the APOA5 gene than traditional genetic tests.

Conclusion

Hyperchylomicronemia type 5 is a rare genetic disorder that can cause a range of symptoms and complications related to lipid metabolism. If you or a loved one are experiencing recurrent abdominal pain, eruptive xanthomas, or other symptoms associated with this disorder, it is important to speak with your doctor about getting tested.