About Niemann-Pick Disease Type C1 and the NPC1 Gene

Niemann-Pick disease type C1 (NPC1) is a rare genetic disorder that affects the way cholesterol and other lipids are transported within cells. This leads to a buildup of these substances in various organs, including the liver, spleen, and brain.

NPC1 is caused by mutations in the NPC1 gene, which provides instructions for making a protein that helps transport cholesterol and other lipids out of cells. Mutations in this gene can lead to a deficiency of the NPC1 protein, which in turn leads to the buildup of lipids within cells.

Symptoms and Diagnosis

The symptoms of NPC1 can vary widely, even among individuals with the same mutation. Some people may develop symptoms in infancy, while others may not show signs of the disease until later in childhood or even adulthood.

Common symptoms of NPC1 include:

• Difficulty with movement and coordination
• Cognitive decline and dementia
• Seizures
• Hepatosplenomegaly (enlargement of the liver and spleen)
• Difficulty swallowing and speaking
• Loss of vision

Diagnosis of NPC1 is typically done through a combination of clinical evaluation, imaging tests, and genetic testing. A skin biopsy may also be done to look for the buildup of lipids within cells.

NGS Genetic DNA Test for NPC1

The NGS Genetic DNA test is a highly sensitive and specific test that can detect mutations in the NPC1 gene. This test analyzes the DNA sequence of the gene to identify any changes or mutations that may be present.

The NGS Genetic DNA test is a valuable tool for diagnosing NPC1, as it can detect mutations that may not be found through other methods. It can also be used for carrier testing and prenatal diagnosis.

Cost of the NGS Genetic DNA Test for NPC1

The cost of the NGS Genetic DNA test for NPC1 is INR 20,000. This includes the cost of sample collection, analysis, and interpretation.

At DNA Labs India, we strive to provide affordable and accessible genetic testing services to our clients. We also offer genetic counseling services to help individuals and families understand their test results and make informed decisions about their health.