Short Description

NGS genetic DNA test detecets for variant and mutation detection in APOB gene for Hypobetalipoproteinemia type 1

PreTest Information

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

Detail Description

APOB Gene Hypobetalipoproteinemia Type 1 NGS Genetic DNA Test

Hypobetalipoproteinemia type 1 is a rare genetic disorder that affects the metabolism of fats and cholesterol in the body. It is caused by mutations in the APOB gene, which provides instructions for making a protein called apolipoprotein B. This protein is essential for the transport of fats and cholesterol in the blood.

Symptoms of Hypobetalipoproteinemia Type 1

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

• Abdominal pain
• Fatty liver
• Diarrhea
• Steatorrhea (fatty stools)
• Malabsorption of fats and fat-soluble vitamins
• Low levels of cholesterol and triglycerides in the blood
• Vitamin E deficiency
• Neurological problems, such as ataxia and peripheral neuropathy

Diagnosis of Hypobetalipoproteinemia Type 1

Hypobetalipoproteinemia type 1 can be diagnosed through genetic testing. Next-generation sequencing (NGS) is a powerful tool that allows for the simultaneous analysis of multiple genes, including the APOB gene. This test can detect mutations in the APOB gene that cause hypobetalipoproteinemia type 1.

NGS Genetic DNA Test Cost

The cost of an NGS genetic DNA test for hypobetalipoproteinemia type 1 is INR 20,000 in India. This price may vary depending on the laboratory and the specific test being performed.

Conclusion

Hypobetalipoproteinemia type 1 is a rare genetic disorder that affects the metabolism of fats and cholesterol in the body. It can cause a range of symptoms, including abdominal pain, fatty liver, and neurological problems. Diagnosis of hypobetalipoproteinemia type 1 can be made through genetic testing, specifically NGS. The cost of an NGS genetic DNA test for hypobetalipoproteinemia type 1 is INR 20,000 in India.

If you suspect that you or a loved one may have hypobetalipoproteinemia type 1, it is important to speak with a healthcare professional. They can provide guidance on testing and treatment options.

At DNA Labs India, we offer a wide range of genetic testing services, including NGS genetic DNA tests for hypobetalipoproteinemia type 1. Contact us today to learn more.