Short Description

NGS genetic DNA test detecets for variant and mutation detection in GBA gene for Gaucher disease, perinatal lethal

PreTest Information

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

Detail Description

GBA Gene and Gaucher Disease: Symptoms, Diagnosis, and Perinatal Lethal NGS Genetic DNA Test Cost in India

Gaucher disease is a rare genetic disorder that affects the body's ability to break down a type of fat called glucocerebroside. This buildup of fat can cause a range of symptoms, including bone pain, fatigue, anemia, and enlarged liver and spleen. Gaucher disease is caused by mutations in the GBA gene, which provides instructions for making an enzyme called glucocerebrosidase.

There are three types of Gaucher disease:

1. Type 1 is the most common and usually affects the bones, liver, and spleen. Symptoms can range from mild to severe and typically appear in childhood or adolescence.
2. Type 2 is a rare, severe form of the disease that affects the brain and nervous system. Babies born with this type of Gaucher disease typically die within the first few months of life.
3. Type 3 is a milder form of the disease that also affects the brain and nervous system. Symptoms can appear in childhood or adolescence and can include seizures, vision problems, and difficulty walking.

Symptoms of Gaucher Disease

The symptoms of Gaucher disease can vary depending on the type and severity of the condition. Some common symptoms include:

• Bone pain or fractures
• Easy bruising or bleeding
• Anemia
• Enlarged liver and spleen
• Fatigue
• Yellowing of the skin and eyes (jaundice)

Diagnosis of Gaucher Disease

Diagnosing Gaucher disease typically involves a combination of blood tests, imaging tests, and genetic testing. Blood tests can detect low levels of glucocerebrosidase and elevated levels of certain chemicals in the blood. Imaging tests, such as X-rays or MRI scans, can show changes in the bones or organs that are characteristic of Gaucher disease. Genetic testing can confirm a diagnosis by identifying mutations in the GBA gene.

Perinatal Lethal NGS Genetic DNA Test Cost in India

NGS (next-generation sequencing) is a powerful tool for analyzing DNA sequences and identifying genetic mutations. Perinatal lethal NGS genetic DNA testing can be used to diagnose genetic disorders before birth, allowing parents to make informed decisions about their pregnancy and their child's care.

The cost of perinatal lethal NGS genetic DNA testing in India can vary depending on the laboratory and the specific test being performed. At DNA Labs India, the cost of perinatal lethal NGS genetic DNA testing for Gaucher disease is INR 20,000.

Conclusion

Gaucher disease is a rare genetic disorder that can cause a range of symptoms, including bone pain, fatigue, anemia, and enlarged liver and spleen. Diagnosis typically involves blood tests, imaging tests, and genetic testing. Perinatal lethal NGS genetic DNA testing can be used to diagnose genetic disorders before birth, and the cost of this testing can vary depending on the laboratory and the specific test being performed. If you or a loved one is experiencing symptoms of Gaucher disease, it is important to speak with a healthcare professional to determine the best course of action.

For more information on Gaucher disease and genetic testing, contact DNA Labs India.

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 GBA Gene Gaucher disease, perinatal lethal NGS Genetic DNA Test