Short Description

NGS genetic DNA test detecets for variant and mutation detection in PYGL gene for Glycogen storage disease type 6B

PreTest Information

Clinical History of Patient who is going for PYGL Gene Glycogen storage disease type 6B NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycogen storage disease type 6B

Detail Description

PYGL Gene Glycogen Storage Disease Type 6B: NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Glycogen storage diseases (GSDs) are a group of inherited metabolic disorders that affect the way the body stores and uses glycogen. Glycogen is the main storage form of glucose, which is the body's primary source of energy. There are different types of GSDs, and one of them is Glycogen Storage Disease Type 6B, caused by a mutation in the PYGL gene.

What is PYGL Gene Glycogen Storage Disease Type 6B?

PYGL Gene Glycogen Storage Disease Type 6B is a rare genetic disorder that affects the liver and muscles. It is caused by a mutation in the PYGL gene, which encodes the enzyme glycogen phosphorylase. This enzyme is responsible for breaking down glycogen into glucose, which the body can use for energy. When there is a mutation in the PYGL gene, the enzyme is not produced correctly, and the body is unable to break down glycogen effectively.

As a result, glycogen accumulates in the liver and muscles, leading to a range of symptoms, including low blood sugar, enlarged liver and spleen, muscle weakness, and fatigue.

Symptoms of PYGL Gene Glycogen Storage Disease Type 6B

The symptoms of PYGL Gene Glycogen Storage Disease Type 6B can vary from person to person, and the severity of the condition can also differ. Some of the common symptoms of this condition include:

• Low blood sugar (hypoglycemia)
• Enlarged liver and spleen
• Muscle weakness and fatigue
• Delayed growth
• Delayed puberty
• Difficulty gaining weight
• Recurrent infections
• Seizures (in severe cases)

If you or your child is experiencing any of these symptoms, it is important to consult a healthcare professional for proper diagnosis and treatment.

Diagnosis of PYGL Gene Glycogen Storage Disease Type 6B

Diagnosing PYGL Gene Glycogen Storage Disease Type 6B involves a combination of clinical evaluation, laboratory tests, and genetic testing. A healthcare professional will perform a physical exam and ask about the patient's medical history and symptoms. Blood tests may be done to check the levels of glucose and other substances in the blood, and imaging tests, such as ultrasound, may be done to examine the liver and other organs.

Genetic testing is the most definitive way to diagnose PYGL Gene Glycogen Storage Disease Type 6B. This involves analyzing a sample of the patient's DNA to look for mutations in the PYGL gene. This can be done using Next-Generation Sequencing (NGS) technology, which allows for the analysis of multiple genes at once.

NGS Genetic DNA Test Cost for PYGL Gene Glycogen Storage Disease Type 6B

The cost of NGS Genetic DNA Test for PYGL Gene Glycogen Storage Disease Type 6B in India is around INR 20,000. However, the cost may vary depending on the laboratory and location.

Treatment of PYGL Gene Glycogen Storage Disease Type 6B

Currently, there is no cure for PYGL Gene Glycogen Storage Disease Type 6B. Treatment involves managing the symptoms and preventing complications. This may include a special diet, medication to manage blood sugar levels, and in some cases, liver transplantation.

Conclusion

PYGL Gene Glycogen Storage Disease Type 6B is a rare genetic disorder that affects the way the body stores and uses glycogen. It can lead to a range of symptoms, including low blood sugar, enlarged liver and spleen, muscle weakness, and fatigue. Diagnosing the condition involves a combination of clinical evaluation, laboratory tests, and genetic testing. NGS Genetic DNA Test for PYGL Gene Glycogen Storage Disease Type 6B costs around INR 20,000 in India. While there is no cure for this condition, proper management can help improve the patient's quality of life.

It is important to raise awareness about rare genetic disorders like PYGL Gene Glycogen Storage Disease Type 6B and the importance of genetic testing for proper diagnosis and treatment.

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 PYGL Gene Glycogen storage disease type 6B NGS Genetic DNA Test