Short Description

NGS genetic DNA test detecets for variant and mutation detection in GAA gene for Glycogen storage disease type 2

PreTest Information

Clinical History of Patient who is going for GAA Gene Glycogen storage disease type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycogen storage disease type 2

Detail Description

GAA Gene Glycogen Storage Disease Type 2 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Glycogen Storage Disease Type 2, also known as Pompe Disease, is a rare genetic disorder that affects the breakdown of glycogen in the body. It is caused by a deficiency of the GAA enzyme, which is responsible for breaking down glycogen into glucose. Without this enzyme, glycogen accumulates in the body, leading to muscle weakness, respiratory problems, and other complications.

The GAA gene is located on chromosome 17 and contains instructions for producing the GAA enzyme. Mutations in the GAA gene can lead to a deficiency of the enzyme, causing Pompe Disease. The disease can be inherited in an autosomal recessive manner, meaning that both parents must carry a mutated copy of the gene for their child to be affected.

Symptoms of Glycogen Storage Disease Type 2

The symptoms of Pompe Disease vary depending on the age of onset and the severity of the disease. In infants, the disease can cause hypotonia (low muscle tone), cardiomegaly (enlarged heart), and respiratory distress. In adults, the disease can cause progressive muscle weakness, respiratory problems, and difficulty swallowing. Other symptoms may include:

• Fatigue
• Muscle pain
• Difficulty breathing
• Difficulty swallowing
• Enlarged heart
• Abnormal liver function

Diagnosis of Glycogen Storage Disease Type 2

Diagnosis of Pompe Disease typically involves a combination of clinical evaluation, laboratory tests, and genetic testing. A physical examination may reveal muscle weakness, respiratory problems, and other symptoms. Laboratory tests may include blood tests to measure levels of the GAA enzyme and muscle biopsy to evaluate glycogen accumulation in muscle tissue. Genetic testing can confirm a diagnosis of Pompe Disease by identifying mutations in the GAA gene.

NGS Genetic DNA Test Cost INR:20000

The cost of NGS Genetic DNA testing for Pompe Disease in India is typically around INR 20,000. This test uses next-generation sequencing technology to analyze the DNA sequence of the GAA gene and identify mutations that may cause Pompe Disease. The test can be performed using a blood sample or saliva sample and typically takes several weeks to complete. NGS Genetic DNA testing can provide a definitive diagnosis of Pompe Disease and help guide treatment and management of the disease.

Conclusion

Pompe Disease is a rare genetic disorder that can cause muscle weakness, respiratory problems, and other complications. Diagnosis typically involves a combination of clinical evaluation, laboratory tests, and genetic testing. NGS Genetic DNA testing can provide a definitive diagnosis of Pompe Disease and help guide treatment and management of the disease. The cost of NGS Genetic DNA testing for Pompe Disease in India is typically around INR 20,000.

If you suspect that you or a loved one may have Pompe Disease, it is important to speak with a healthcare provider and undergo appropriate testing and evaluation.

For more information or to schedule a consultation, 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 GAA Gene Glycogen storage disease type 2 NGS Genetic DNA Test