Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC6A9 gene for Glycine encephalopathy with normal serum glycine

PreTest Information

Clinical History of Patient who is going for SLC6A9 Gene Glycine encephalopathy with normal serum glycine NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycine encephalopathy with normal serum glycine

Detail Description

SLC6A9 Gene Glycine Encephalopathy: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Glycine encephalopathy is a rare genetic disorder that affects the central nervous system. It is caused by a mutation in the SLC6A9 gene, which is responsible for producing a protein that helps transport glycine, an amino acid, across the blood-brain barrier. When this protein is defective, glycine accumulates in the brain and causes damage to nerve cells, leading to a range of symptoms.

Symptoms of Glycine Encephalopathy

The symptoms of glycine encephalopathy can vary widely, depending on the severity of the disorder and the age of onset. In some cases, the condition may be fatal in infancy, while in others, it may not become apparent until later in life. Some common symptoms of glycine encephalopathy include:

• Seizures
• Hypotonia (low muscle tone)
• Developmental delay
• Mental retardation
• Hyperactivity
• Ataxia (loss of muscle coordination)
• Respiratory distress

Diagnosis of Glycine Encephalopathy

Diagnosis of glycine encephalopathy can be difficult, as the symptoms can be similar to those of other neurological disorders. However, there are several tests that can help to confirm the diagnosis, including:

• Blood tests to measure serum glycine levels
• Urine tests to measure glycine excretion
• Brain imaging studies, such as MRI or CT scans
• Genetic testing to identify mutations in the SLC6A9 gene

NGS Genetic DNA Test for SLC6A9 Gene Glycine Encephalopathy

NGS (next-generation sequencing) genetic testing is a powerful tool for identifying genetic mutations associated with glycine encephalopathy. This test uses advanced DNA sequencing technology to rapidly analyze large amounts of genetic data, allowing for more accurate and comprehensive testing.

The cost of NGS genetic DNA testing for SLC6A9 gene glycine encephalopathy varies depending on the provider, but typically ranges from INR 20,000 to INR 50,000. It is important to choose a reputable provider with experience in genetic testing to ensure accurate results.

Conclusion

Glycine encephalopathy is a rare genetic disorder that can have serious neurological effects. Early diagnosis and treatment are critical for improving outcomes, and NGS genetic testing can be a valuable tool in identifying the underlying genetic mutations. If you or a loved one are experiencing symptoms of glycine encephalopathy, it is important to consult with a qualified healthcare provider and consider genetic testing to guide treatment decisions.

At DNA Labs India, we offer a range of genetic testing services, including NGS genetic testing for SLC6A9 gene glycine encephalopathy. Contact us today to learn more about our services and how we can help.

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 SLC6A9 Gene Glycine encephalopathy with normal serum glycine NGS Genetic DNA Test