Short Description

NGS genetic DNA test detecets for variant and mutation detection in GCSH gene for Glycine encephalopathy

PreTest Information

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

Detail Description

DNA Labs India: GCSH Gene Glycine Encephalopathy NGS Genetic DNA Test Cost

Glycine encephalopathy is a rare genetic disorder that affects the central nervous system. It is caused by mutations in the GCSH gene, which provides instructions for making an enzyme called glycine cleavage system. This enzyme is responsible for breaking down glycine, an amino acid that plays a role in the nervous system's function. When the glycine cleavage system is not working correctly, glycine accumulates in the brain and causes damage.

Symptoms of Glycine Encephalopathy

The symptoms of glycine encephalopathy can vary widely, but they generally include:

• Developmental delays
• Seizures
• Low muscle tone
• Poor feeding
• Enlarged liver
• Abnormal eye movements

Symptoms can appear in infancy or early childhood and can be severe, leading to developmental disabilities and even death in some cases.

Diagnosis of Glycine Encephalopathy

Diagnosis of glycine encephalopathy usually involves a combination of clinical evaluation, laboratory tests, and genetic testing. Laboratory tests can detect high levels of glycine in the blood or cerebrospinal fluid, while genetic testing can identify mutations in the GCSH gene.

NGS Genetic DNA Test Cost

NGS Genetic DNA testing is a type of genetic testing that uses next-generation sequencing technology to analyze multiple genes simultaneously. This technology can detect mutations in the GCSH gene that cause glycine encephalopathy. The cost of NGS Genetic DNA testing in India is typically around INR 20,000.

Conclusion

Glycine encephalopathy is a rare genetic disorder that can have severe consequences. Early diagnosis is crucial for managing symptoms and improving outcomes. NGS Genetic DNA testing is a reliable and efficient method for identifying mutations in the GCSH gene that cause glycine encephalopathy. If you suspect that you or your child may have this condition, speak to your doctor about genetic testing options.

For more information about NGS Genetic DNA testing and other genetic testing services, contact DNA Labs India today.

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 GCSH Gene Glycine encephalopathy NGS Genetic DNA Test