Short Description

NGS genetic DNA test detecets for variant and mutation detection in SARDH gene for Sarcosinemia

PreTest Information

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

Detail Description

SARDH Gene Sarcosinemia NGS Genetic DNA Test

Sarcosinemia is a rare genetic disorder in which the body is unable to break down sarcosine, an amino acid that is normally found in the body. This can lead to a buildup of sarcosine in the blood and urine, which can cause a range of symptoms and health problems.

Symptoms of Sarcosinemia

The symptoms of sarcosinemia can vary from person to person, but may include:

• Developmental delays
• Intellectual disability
• Behavioral problems
• Speech difficulties
• Seizures
• Muscle weakness
• Abnormal movements
• Enlarged liver (hepatomegaly)
• Enlarged spleen (splenomegaly)

If you or someone you know is experiencing any of these symptoms, it is important to speak with a healthcare provider to determine the underlying cause and appropriate treatment.

SARDH Gene and Sarcosinemia

Sarcosinemia is caused by mutations in the SARDH gene, which provides instructions for making an enzyme called sarcosine dehydrogenase. This enzyme is responsible for breaking down sarcosine in the body. When there is a mutation in the SARDH gene, the enzyme may not function properly, leading to a buildup of sarcosine in the body.

Diagnosis of Sarcosinemia

Sarcosinemia can be diagnosed through a variety of tests, including:

• Blood tests to measure levels of sarcosine and other amino acids
• Urine tests to measure levels of sarcosine and other amino acids
• Genetic testing to look for mutations in the SARDH gene

It is important to work with a healthcare provider who is experienced in diagnosing and treating rare genetic disorders, such as sarcosinemia.

NGS Genetic DNA Test for Sarcosinemia

At DNA Labs India, we offer a Next Generation Sequencing (NGS) Genetic DNA Test for Sarcosinemia. This test uses cutting-edge technology to analyze the SARDH gene and identify any mutations that may be present. This information can be used to diagnose sarcosinemia and guide appropriate treatment.

Cost of NGS Genetic DNA Test for Sarcosinemia

The cost of the NGS Genetic DNA Test for Sarcosinemia at DNA Labs India is INR 20,000. This includes the cost of the test, as well as genetic counseling to help you understand the results and make informed decisions about your health.

Conclusion

If you or someone you know is experiencing symptoms of sarcosinemia, it is important to speak with a healthcare provider to determine the underlying cause and appropriate treatment. At DNA Labs India, we offer a Next Generation Sequencing (NGS) Genetic DNA Test for Sarcosinemia to help diagnose this rare genetic disorder. Contact us today to learn more.

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 SARDH Gene Sarcosinemia NGS Genetic DNA Test