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PYGM Gene Glycogen storage disease type 5 NGS Genetic DNA Test Cost 20000 Rs
PYGM Gene Glycogen storage disease type 5 NGS Genetic DNA Test Details
PYGM Gene and Glycogen Storage Disease Type 5: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India
Glycogen storage disease type 5, also known as McArdle disease, is a rare genetic disorder that affects the breakdown of glycogen in muscle cells. It is caused by a deficiency of the PYGM gene, which is responsible for producing an enzyme called myophosphorylase. This enzyme plays a crucial role in breaking down glycogen into glucose, which is used as a source of energy by the muscles.
Symptoms of Glycogen Storage Disease Type 5
The symptoms of glycogen storage disease type 5 usually appear during childhood or adolescence, although some people may not experience symptoms until later in life. The most common symptoms include:
- Muscle pain and cramping during exercise
- Stiffness and weakness in the muscles
- Rapid fatigue during physical activity
- Myoglobinuria (the presence of myoglobin in the urine)
These symptoms are caused by the buildup of glycogen in the muscles, which prevents the muscles from using glucose as a source of energy. This can lead to muscle damage and inflammation, which can cause pain and weakness.
Diagnosis of Glycogen Storage Disease Type 5
The diagnosis of glycogen storage disease type 5 usually involves a combination of clinical evaluation, blood tests, and genetic testing. The blood tests are used to measure the levels of certain enzymes and proteins in the blood, which can indicate whether there is a problem with glycogen metabolism. Genetic testing can confirm the presence of a mutation in the PYGM gene, which is responsible for the disorder.
NGS Genetic DNA Test Cost in India
The cost of an NGS genetic DNA test for glycogen storage disease type 5 in India can vary depending on the laboratory and the specific test being performed. At DNA Labs India, the cost of the test is INR 20,000.
This test uses next-generation sequencing (NGS) technology to analyze the entire PYGM gene, which can detect mutations that are not detectable by other methods. It can also be used to screen for other genetic disorders that may be related to glycogen metabolism, such as Pompe disease and Danon disease.
Conclusion
Glycogen storage disease type 5 is a rare genetic disorder that affects the breakdown of glycogen in muscle cells. The symptoms of the disorder can be debilitating, but early diagnosis and treatment can help to manage the symptoms and prevent long-term complications. Genetic testing, such as the NGS genetic DNA test offered by DNA Labs India, can help to confirm the diagnosis and provide valuable information about the patient's genetic makeup.
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 PYGM Gene Glycogen storage disease type 5 NGS Genetic DNA Test
