Short Description

NGS genetic DNA test detecets for variant and mutation detection in SAR1B gene for Chylomicron retention disease

PreTest Information

Clinical History of Patient who is going for SAR1B Gene Chylomicron retention disease NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Chylomicron retention disease

Detail Description

SAR1B Gene Chylomicron Retention Disease NGS Genetic DNA Test Cost INR 20000: Symptoms, Diagnosis

Chylomicron retention disease is a rare genetic disorder that affects the absorption of dietary fats. It is caused by mutations in the SAR1B gene, which is responsible for the production of a protein that helps transport fats out of the cells in the small intestine and into the bloodstream. As a result of this mutation, chylomicrons (particles that transport fats) are retained in the cells of the small intestine and cannot be transported into the bloodstream.

Symptoms of Chylomicron Retention Disease

The symptoms of chylomicron retention disease can vary from person to person. Some of the common symptoms include:

• Steatorrhea (fatty stool)
• Abdominal pain and bloating
• Vitamin deficiencies (A, D, E, K)
• Failure to thrive in infants
• Pancreatitis
• Hepatosplenomegaly (enlargement of the liver and spleen)

Diagnosis of Chylomicron Retention Disease

A diagnosis of chylomicron retention disease is typically made based on a combination of clinical symptoms, laboratory tests, and genetic testing. Laboratory tests may include blood tests to measure lipid levels and a stool test to detect the presence of fat. Genetic testing is the most definitive way to diagnose chylomicron retention disease. Next-generation sequencing (NGS) genetic DNA testing can identify mutations in the SAR1B gene that cause the disease.

NGS Genetic DNA Test Cost INR 20000

DNA Labs India offers NGS genetic DNA testing for chylomicron retention disease at a cost of INR 20000. This test uses advanced sequencing technology to analyze the SAR1B gene and identify mutations that cause the disease. The test is highly accurate and can detect both known and novel mutations that cause chylomicron retention disease.

Conclusion

If you or a loved one is experiencing symptoms of chylomicron retention disease, it is important to seek medical attention. A diagnosis of chylomicron retention disease can be confirmed through laboratory tests and genetic testing. DNA Labs India offers NGS genetic DNA testing for chylomicron retention disease at an affordable cost of INR 20000. Early diagnosis and treatment can help improve outcomes for individuals with chylomicron retention disease.

For more information on NGS genetic DNA testing for chylomicron retention disease, visit DNA Labs India today.

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 SAR1B Gene Chylomicron retention disease NGS Genetic DNA Test