Short Description

NGS genetic DNA test detecets for variant and mutation detection in LCAT gene for LCAT DEFICIENCY

PreTest Information

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

Detail Description

Understanding LCAT Gene and LCAT Deficiency: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

LCAT (Lecithin Cholesterol Acyltransferase) gene is responsible for producing an enzyme that helps in the metabolism of cholesterol in the body. LCAT deficiency, also known as fish-eye disease, is a rare genetic disorder that affects the metabolism of lipids in the body. Individuals with LCAT deficiency have a reduced level of high-density lipoprotein (HDL) cholesterol, commonly known as the "good cholesterol," which can lead to various health issues.

Symptoms of LCAT Deficiency

The symptoms of LCAT deficiency can vary depending on the severity of the condition. Some common symptoms include:

• Decreased levels of HDL cholesterol
• Increased levels of low-density lipoprotein (LDL) cholesterol, commonly known as "bad cholesterol"
• Corneal opacities
• Renal failure
• Anemia
• Proteinuria
• Enlarged liver and spleen

Diagnosis of LCAT Deficiency

LCAT deficiency is diagnosed through various tests, including:

• Blood tests to check the levels of HDL and LDL cholesterol
• Urine tests to check for the presence of proteinuria
• Genetic testing to detect mutations in the LCAT gene

NGS (Next-generation sequencing) genetic DNA test is a highly accurate and efficient method for detecting genetic mutations. It can help in the diagnosis of LCAT deficiency and other genetic disorders. The cost of NGS genetic DNA test for LCAT deficiency in India is around INR 20,000.

Conclusion

LCAT deficiency is a rare genetic disorder that can lead to various health complications. Early diagnosis and treatment can help in managing the symptoms and preventing further complications. NGS genetic DNA test is a highly accurate and efficient method for detecting genetic mutations and can help in the diagnosis of LCAT deficiency and other genetic disorders. If you suspect that you or your loved one has LCAT deficiency, consult a genetic counselor or a healthcare professional for proper diagnosis and treatment.

For more information on genetic testing and LCAT deficiency, contact DNA Labs India, one of the leading genetic testing labs in India.