Short Description

NGS genetic DNA test detecets for variant and mutation detection in PSAP gene for Gaucher disease, atypical

PreTest Information

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

Detail Description

PSAP Gene Gaucher Disease: Symptoms, Diagnosis, and Atypical NGS Genetic DNA Test Cost in India

Gaucher disease is a rare genetic disorder that affects the body's ability to break down a certain type of fat called glucocerebroside. This buildup of fat can cause a variety of symptoms, including liver and spleen enlargement, bone pain, and anemia. Gaucher disease is caused by mutations in the PSAP gene.

What is the PSAP Gene?

The PSAP gene provides instructions for making a protein called prosaposin. Prosaposin is cleaved into four smaller proteins that play important roles in the breakdown of fats and the normal functioning of cells. Mutations in the PSAP gene can cause Gaucher disease, which is a type of lysosomal storage disorder.

Symptoms of Gaucher Disease

The symptoms of Gaucher disease can vary widely from person to person, even among individuals with the same type of the disorder. Some common symptoms include:

• Enlarged liver and spleen
• Bone pain or fractures
• Anemia and low platelet count
• Yellow spots in the eyes
• Difficulty breathing

Diagnosis of Gaucher Disease

Diagnosis of Gaucher disease typically involves a combination of physical exams, blood tests, and imaging tests. A definitive diagnosis can be made through genetic testing to identify mutations in the PSAP gene. This can be done through an atypical NGS genetic DNA test.

Atypical NGS Genetic DNA Test Cost in India

The cost of an atypical NGS genetic DNA test in India can vary depending on the laboratory and the specific type of test required. However, on average, the cost of this test can range from INR 15,000 to INR 25,000.

Conclusion

PSAP gene Gaucher disease is a rare genetic disorder that can cause a variety of symptoms, including liver and spleen enlargement, bone pain, and anemia. Diagnosis typically involves a combination of physical exams, blood tests, and imaging tests, with a definitive diagnosis made through genetic testing. The cost of an atypical NGS genetic DNA test in India can vary, but can be upwards of INR 20,000.

If you suspect you or a loved one may have Gaucher disease, it's important to speak with a healthcare professional for proper diagnosis and treatment.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for PSAP Gene Gaucher disease, atypical NGS Genetic DNA Test