Short Description

NGS genetic DNA test detecets for variant and mutation detection in GBA gene for Gaucher disease type 3C

PreTest Information

Clinical History of Patient who is going for GBA Gene Gaucher disease type 3C NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Gaucher disease type 3C

Detail Description

GBA Gene Gaucher Disease Type 3C NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

GBA gene Gaucher disease type 3C is a rare genetic disorder that affects the nervous system. It is caused by mutations in the GBA gene, which encodes for the enzyme glucocerebrosidase. This enzyme is responsible for breaking down a fatty substance called glucocerebroside, which is found in cells throughout the body. When the enzyme is not functioning properly, glucocerebroside builds up in the cells, causing damage to the nervous system.

Symptoms of GBA Gene Gaucher Disease Type 3C

The symptoms of GBA gene Gaucher disease type 3C can vary widely, and may include:

• Delayed motor development
• Seizures
• Enlarged liver and spleen
• Abnormal eye movements
• Muscle weakness
• Difficulty swallowing
• Speech problems

Diagnosis of GBA Gene Gaucher Disease Type 3C

Diagnosis of GBA gene Gaucher disease type 3C can be difficult, as the symptoms may be similar to those of other neurological disorders. However, genetic testing can confirm the diagnosis. Specifically, next-generation sequencing (NGS) genetic DNA testing can identify mutations in the GBA gene that are associated with Gaucher disease type 3C.

Cost of GBA Gene Gaucher Disease Type 3C NGS Genetic DNA Test

The cost of the GBA gene Gaucher disease type 3C NGS genetic DNA test in India is typically around INR 20,000. However, the cost may vary depending on the specific laboratory or testing facility.

Conclusion

GBA gene Gaucher disease type 3C is a rare genetic disorder that can cause a variety of neurological symptoms. Diagnosis can be confirmed through next-generation sequencing genetic DNA testing, which can identify mutations in the GBA gene. The cost of this testing in India is typically around INR 20,000.

If you suspect that you or a loved one may have GBA gene Gaucher disease type 3C, it is important to speak with a medical professional who can provide a proper diagnosis and treatment plan.

For genetic testing and diagnosis, DNA Labs India offers high-quality and reliable NGS genetic DNA testing services. Our team of experts is dedicated to providing accurate and timely results to help patients and healthcare professionals make informed decisions about their health.

Contact DNA Labs India today to learn more about our genetic testing services.

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 type 3C NGS Genetic DNA Test