Short Description

NGS genetic DNA test detecets for variant and mutation detection in LIPA gene for Wolman disease

PreTest Information

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

Detail Description

DNA Labs India: LIPA Gene Wolman Disease NGS Genetic DNA Test Cost INR 20000

Wolman disease is a rare genetic disorder that affects the body's ability to break down fats. The disease is caused by mutations in the LIPA gene, which codes for an enzyme called lysosomal acid lipase. The lack of this enzyme leads to a buildup of fats in the body's tissues and organs, which can cause severe damage and even death.

Symptoms of Wolman Disease

The symptoms of Wolman disease usually appear within the first few months of life and may include:

• Enlarged liver and spleen
• Poor weight gain
• Diarrhea
• Yellowing of the skin and eyes (jaundice)
• Low blood pressure
• Difficulty breathing
• Seizures

Wolman disease is a progressive disorder, which means that the symptoms will get worse over time. If left untreated, the disease can be fatal within the first year of life.

Diagnosis of Wolman Disease

Wolman disease can be diagnosed through a genetic test that looks for mutations in the LIPA gene. This test is called Next Generation Sequencing (NGS) and is available at DNA Labs India. The test involves taking a small sample of blood or tissue and analyzing it for genetic mutations.

The cost of the NGS genetic DNA test for Wolman disease at DNA Labs India is INR 20000.

Treatment of Wolman Disease

Currently, there is no cure for Wolman disease. Treatment is focused on managing the symptoms and improving the quality of life for the patient. This may include:

• Enzyme replacement therapy
• Nutritional support
• Pain management
• Physical therapy

Conclusion

Wolman disease is a rare genetic disorder that can have severe consequences if left untreated. Early diagnosis through NGS genetic DNA testing can help to ensure that patients receive the appropriate treatment and management of their symptoms. DNA Labs India offers this test at an affordable cost of INR 20000.

If you suspect that you or a loved one may have Wolman disease, it is important to seek medical attention and genetic testing as soon as possible.

For more information about genetic testing and DNA Labs India, please visit our website.