Short Description

NGS genetic DNA test detecets for variant and mutation detection in GFPT1 gene for Myasthenia congenital with tubular aggregates 1

PreTest Information

Clinical History of Patient who is going for GFPT1 Gene Myasthenia congenital with tubular aggregates 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with GFPT1 Gene Myasthenia congenital with tubular aggregates 1

Detail Description

GFPT1 Gene Myasthenia Congenital with Tubular Aggregates 1 NGS Genetic DNA Test

Myasthenia Congenital with Tubular Aggregates 1 (MCTA1) is a rare genetic disorder that affects the neuromuscular junction, resulting in muscle weakness and fatigue. The condition is caused by mutations in the GFPT1 gene, which encodes for an enzyme involved in the synthesis of a sugar molecule called N-acetylglucosamine.

The symptoms of MCTA1 can vary widely, but typically include muscle weakness and fatigue, particularly in the limbs and face. Some individuals may also experience difficulty swallowing or breathing, as well as episodes of muscle cramping or spasms. The age of onset can range from infancy to adulthood, and the severity of symptoms can also vary widely.

Diagnosing MCTA1 can be challenging, as it is a rare disorder and its symptoms can be similar to other neuromuscular conditions. However, a genetic test can confirm a diagnosis by identifying mutations in the GFPT1 gene. Next-generation sequencing (NGS) technology allows for comprehensive analysis of the entire gene, enabling detection of even rare mutations.

DNA Labs India offers a GFPT1 Gene Myasthenia Congenital with Tubular Aggregates 1 NGS Genetic DNA Test at a cost of INR 20,000. The test involves a simple blood or saliva sample, which is analyzed using NGS technology to identify any mutations in the GFPT1 gene.

If you or a loved one are experiencing symptoms of MCTA1, or have a family history of the condition, consider getting tested. Early diagnosis can lead to better management of symptoms and improved quality of life.

Key Points:

• Myasthenia Congenital with Tubular Aggregates 1 (MCTA1) is a rare genetic disorder caused by mutations in the GFPT1 gene.
• Symptoms can include muscle weakness, fatigue, difficulty swallowing or breathing, and muscle cramping or spasms.
• A genetic test can confirm a diagnosis by identifying mutations in the GFPT1 gene using NGS technology.
• The GFPT1 Gene Myasthenia Congenital with Tubular Aggregates 1 NGS Genetic DNA Test is available at DNA Labs India at a cost of INR 20,000.
• Early diagnosis can lead to better management of symptoms and improved quality of life.

Don't let the symptoms of MCTA1 go undiagnosed. Consider getting tested 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 GFPT1 Gene Myasthenia congenital with tubular aggregates 1 NGS Genetic DNA Test