Short Description

NGS genetic DNA test detecets for variant and mutation detection in PHKB gene for Glycogen storage disease type 9B

PreTest Information

Clinical History of Patient who is going for PHKB Gene Glycogen storage disease type 9B NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycogen storage disease type 9B

Detail Description

PHKB Gene Glycogen Storage Disease Type 9B NGS Genetic DNA Test

PHKB Gene Glycogen Storage Disease Type 9B NGS Genetic DNA Test is a diagnostic test that helps in identifying the presence of PHKB gene mutations that cause Glycogen Storage Disease Type 9B (GSD9B). This genetic disorder affects the body's ability to store glycogen, which is a crucial source of energy for the body. GSD9B is a rare condition that affects only a few people worldwide.

Symptoms

The symptoms of GSD9B may vary from person to person and can range from mild to severe. Some of the common symptoms include:

• Difficulty in breathing
• Enlarged liver
• Low blood sugar levels
• Muscle weakness
• Delayed growth and development
• Increased susceptibility to infections

Diagnosis

Diagnosis of GSD9B is usually done through a genetic test that looks for mutations in the PHKB gene. This test can be done through NGS (Next-generation sequencing) technology, which is a high-throughput sequencing method that can analyze multiple genes simultaneously. The NGS Genetic DNA Test is a more precise and efficient method of diagnosis than traditional genetic tests.

Cost

The cost of the PHKB Gene Glycogen Storage Disease Type 9B NGS Genetic DNA Test in India is around INR 20,000. The cost may vary depending on the laboratory and location. However, the cost of the test is worth it as it provides a definitive diagnosis and helps in determining the appropriate treatment and management plan for the patient.

Conclusion

PHKB Gene Glycogen Storage Disease Type 9B NGS Genetic DNA Test is an essential diagnostic tool for identifying GSD9B. The test helps in providing a precise and accurate diagnosis, which is crucial for determining the appropriate treatment and management plan for the patient. Although the cost of the test may vary, it is worth it as it can provide significant benefits to the patient and their family.

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 PHKB Gene Glycogen storage disease type 9B NGS Genetic DNA Test