Short Description

NGS genetic DNA test detecets for variant and mutation detection in MTTP gene for Abetalipoproteinemia

PreTest Information

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

Detail Description

MTTP Gene Abetalipoproteinemia NGS Genetic DNA Test

Abetalipoproteinemia is a rare genetic disorder that affects the absorption of dietary fats and fat-soluble vitamins. This disorder is caused by mutations in the microsomal triglyceride transfer protein (MTTP) gene, which is responsible for the production of a protein called apolipoprotein B.

Apolipoprotein B is essential for the formation of lipoproteins, which are responsible for carrying fats and fat-soluble vitamins in the blood. In individuals with abetalipoproteinemia, the production of apolipoprotein B is reduced, leading to a deficiency in lipoproteins and the inability to absorb fats and fat-soluble vitamins. This can result in a range of symptoms, including:

• Fatigue
• Muscle weakness
• Weight loss
• Abdominal pain
• Diarrhea
• Steatorrhea (fatty stools)
• Vitamin deficiencies, particularly vitamins A and E

Diagnosis of Abetalipoproteinemia

Abetalipoproteinemia is typically diagnosed through a combination of clinical evaluation, blood tests, and genetic testing. Blood tests can reveal low levels of lipids and fat-soluble vitamins, as well as abnormal liver function tests. Genetic testing can identify mutations in the MTTP gene that are associated with abetalipoproteinemia.

NGS Genetic DNA Test for MTTP Gene Abetalipoproteinemia

Next-generation sequencing (NGS) is a powerful tool for genetic testing that allows for the identification of multiple genetic mutations simultaneously. NGS testing can be used to identify mutations in the MTTP gene that are associated with abetalipoproteinemia, allowing for a more accurate diagnosis.

At DNA Labs India, we offer NGS genetic DNA testing for MTTP gene abetalipoproteinemia at a cost of INR 20,000. Our test is highly accurate and provides fast results, allowing for prompt diagnosis and treatment.

Conclusion

Abetalipoproteinemia is a rare genetic disorder that can cause a range of symptoms related to the inability to absorb fats and fat-soluble vitamins. Genetic testing, including NGS testing for the MTTP gene, can provide a more accurate diagnosis and allow for prompt treatment. At DNA Labs India, we offer NGS genetic DNA testing for MTTP gene abetalipoproteinemia at an affordable cost, providing patients with the information they need to manage their condition effectively.

Contact us today to learn more about our NGS genetic DNA testing for MTTP gene abetalipoproteinemia.