Short Description

NGS genetic DNA test detecets for variant and mutation detection in PGM1 gene for Glycogen storage disease type 14

PreTest Information

Clinical History of Patient who is going for PGM1 Gene Glycogen storage disease type 14 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycogen storage disease type 14

Detail Description

PGM1 Gene Glycogen Storage Disease Type 14 NGS Genetic DNA Test

Glycogen storage disease type 14 (GSD14) is a rare genetic disorder caused by mutations in the PGM1 gene. This gene provides instructions for producing an enzyme called phosphoglucomutase 1, which plays a crucial role in breaking down glycogen, a complex sugar that provides energy to the body's cells. In individuals with GSD14, the mutated PGM1 gene leads to a deficiency in this enzyme, resulting in the accumulation of glycogen in various organs and tissues.

The symptoms of GSD14 can vary widely, depending on the severity of the deficiency and the organs affected. Some common symptoms include:

• Enlarged liver and spleen
• Muscle weakness and fatigue
• Low blood sugar levels (hypoglycemia)
• Delayed growth and development
• Breathing problems
• Heart problems

Diagnosing GSD14 can be challenging because the symptoms are similar to those of other glycogen storage diseases. However, genetic testing can confirm the presence of mutations in the PGM1 gene and help differentiate GSD14 from other disorders.

The NGS Genetic DNA Test is a powerful diagnostic tool that uses next-generation sequencing technology to analyze the entire PGM1 gene and detect any mutations or variations. This test is highly accurate and reliable and can provide a definitive diagnosis for GSD14.

The cost of the NGS Genetic DNA Test for GSD14 is INR 20,000. This may seem expensive, but it is a worthwhile investment for individuals with suspected GSD14 because an accurate diagnosis can help guide treatment decisions and improve outcomes.

In conclusion, GSD14 is a rare genetic disorder that can cause a range of symptoms, including enlarged liver and spleen, muscle weakness and fatigue, low blood sugar levels, delayed growth and development, breathing problems, and heart problems. The NGS Genetic DNA Test is a highly accurate and reliable diagnostic tool that can confirm the presence of mutations in the PGM1 gene and provide a definitive diagnosis for GSD14. Although the test is expensive, it is a worthwhile investment for individuals with suspected GSD14 because it can help guide treatment decisions and improve outcomes.

For more information on genetic testing and GSD14, contact DNA Labs India.