Short Description

NGS genetic DNA test detecets for variant and mutation detection in LIPA gene for Cholesteryl ester storage disease

PreTest Information

Clinical History of Patient who is going for LIPA Gene Cholesteryl ester storage disease NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Cholesteryl ester storage disease

Detail Description

LIPA Gene Cholesteryl Ester Storage Disease NGS Genetic DNA Test Cost INR 20000: Symptoms and Diagnosis

Cholesteryl Ester Storage Disease, also known as Wolman Disease, is a rare genetic disorder that affects the body's ability to metabolize fats. The disease is caused by mutations in the LIPA gene, which provides instructions for making an enzyme called lysosomal acid lipase (LAL). LAL is responsible for breaking down cholesteryl esters and triglycerides, which are types of fats found in the body. When LAL is not functioning properly, these fats accumulate in the liver, spleen, and other organs, causing damage and leading to a range of symptoms.

Symptoms of LIPA Gene Cholesteryl Ester Storage Disease

The symptoms of LIPA Gene Cholesteryl Ester Storage Disease can vary widely depending on the severity of the disease and the age at which it develops. In general, symptoms may include:

• Enlarged liver and spleen
• Abdominal pain and bloating
• Fatty stools
• Vomiting
• Poor weight gain and growth
• Jaundice
• Anemia
• Low blood sugar
• Breathing difficulties

Because LIPA Gene Cholesteryl Ester Storage Disease is a rare disorder, many doctors may not be familiar with the symptoms and may mistake them for other conditions. If you or a loved one experiences any of these symptoms, it is important to seek medical attention and discuss the possibility of genetic testing.

Diagnosis of LIPA Gene Cholesteryl Ester Storage Disease

Diagnosing LIPA Gene Cholesteryl Ester Storage Disease can be challenging because the symptoms can be similar to those of other conditions. However, there are several tests that can be used to confirm a diagnosis, including:

• Blood tests to measure levels of LAL enzyme activity
• Biopsy of the liver or other affected organs to look for fatty deposits
• Genetic testing to look for mutations in the LIPA gene

If you or a loved one is diagnosed with LIPA Gene Cholesteryl Ester Storage Disease, it is important to work closely with a genetic counselor and a team of healthcare professionals to manage the symptoms and monitor the progression of the disease.

NGS Genetic DNA Test Cost INR 20000

The NGS Genetic DNA Test for LIPA Gene Cholesteryl Ester Storage Disease is a specialized test that can identify mutations in the LIPA gene. The test uses next-generation sequencing (NGS) technology to analyze the entire coding region of the gene and detect any changes or abnormalities. The cost of this test in India is approximately INR 20000.

Conclusion

LIPA Gene Cholesteryl Ester Storage Disease is a rare genetic disorder that can cause a range of symptoms and complications. If you or a loved one experiences any of the symptoms associated with this condition, it is important to seek medical attention and discuss the possibility of genetic testing. The NGS Genetic DNA Test for LIPA Gene Cholesteryl Ester Storage Disease is a valuable tool for diagnosing the condition and helping healthcare professionals manage the symptoms and monitor the progression of the disease.

At DNA Labs India, we offer a range of genetic testing services, including the NGS Genetic DNA Test for LIPA Gene Cholesteryl Ester Storage Disease. Our team of experienced professionals is dedicated to providing accurate and reliable results that can help you make informed decisions about your health. Contact us today to learn more about our services and how we can help you.

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 LIPA Gene Cholesteryl ester storage disease NGS Genetic DNA Test