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Accurate Test Results for PFKM Gene Glycogen storage disease type 7 NGS Genetic DNA Test
PFKM Gene Glycogen storage disease type 7 NGS Genetic DNA Test Cost 20000 Rs
PFKM Gene Glycogen storage disease type 7 NGS Genetic DNA Test Details
PFKM Gene Glycogen Storage Disease Type 7 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis
Glycogen storage disease type 7 is a rare genetic disorder that affects the body's ability to break down glycogen, a complex sugar that provides energy to the muscles. This disease is also known as Tarui disease or muscle phosphofructokinase (PFKM) deficiency. It is caused by mutations in the PFKM gene, which provides instructions for making an enzyme that is important in the breakdown of glycogen.
Symptoms of Glycogen Storage Disease Type 7
The symptoms of glycogen storage disease type 7 can vary widely depending on the severity of the disease. Some common symptoms include:
- Muscle weakness and cramping
- Pain in the muscles during exercise
- Fatigue
- Difficulty running or climbing stairs
- Delayed growth and development
- Enlarged liver and spleen
- High levels of creatine kinase in the blood
Diagnosis of Glycogen Storage Disease Type 7
Diagnosis of glycogen storage disease type 7 typically involves a combination of clinical examination, blood tests, and genetic testing. A doctor may suspect the disease based on the patient's symptoms, medical history, and family history. Blood tests can be used to measure levels of creatine kinase and other enzymes that are important in glycogen breakdown. Genetic testing can confirm the diagnosis by identifying mutations in the PFKM gene.
NGS Genetic DNA Test for Glycogen Storage Disease Type 7
NGS (Next-Generation Sequencing) genetic DNA testing is a powerful tool for diagnosing genetic diseases like glycogen storage disease type 7. This test can analyze the entire PFKM gene and identify any mutations that may be causing the disease. NGS testing is highly accurate and can provide a definitive diagnosis in most cases. The cost of an NGS genetic DNA test for glycogen storage disease type 7 is typically around INR 20000.
Conclusion
Glycogen storage disease type 7 is a rare genetic disorder that can cause muscle weakness, fatigue, and other symptoms. Diagnosis typically involves a combination of clinical examination, blood tests, and genetic testing. NGS genetic DNA testing is a highly accurate and effective way to diagnose this disease, with a cost of around INR 20000. Early diagnosis and treatment can help manage symptoms and improve quality of life for those with this condition.
At DNA Labs India, we offer a wide range of genetic testing services, including NGS genetic DNA testing for glycogen storage disease type 7. Contact us today to learn more about our services and how we can help you.
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 PFKM Gene Glycogen storage disease type 7 NGS Genetic DNA Test
