Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC5A7 gene for Myasthenic syndrome, congenital, type 20, presynaptic

PreTest Information

Clinical History of Patient who is going for SLC5A7 Gene Myasthenic syndrome, congenital, type 20, presynaptic NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SLC5A7 Gene Myasthenic syndrome, congenital, type 20, presynaptic

Detail Description

SLC5A7 Gene Myasthenic Syndrome, Congenital, Type 20, Presynaptic NGS Genetic DNA Test

Myasthenic Syndrome, Congenital, Type 20, Presynaptic is a rare genetic disorder that affects the neuromuscular junction. It is caused by mutations in the SLC5A7 gene, which is responsible for producing a protein called the choline transporter-like protein 1 (CTL1). CTL1 is essential for the uptake of choline, which is necessary for the production of the neurotransmitter acetylcholine. Acetylcholine is a chemical messenger that transmits signals between nerve cells and muscles. In people with Myasthenic Syndrome, Congenital, Type 20, Presynaptic, the muscles do not receive enough acetylcholine, leading to weakness and fatigue.

Symptoms

The symptoms of Myasthenic Syndrome, Congenital, Type 20, Presynaptic can vary in severity and may include:

• Muscle weakness
• Fatigue
• Difficulty breathing
• Difficulty swallowing
• Droopy eyelids
• Slurred speech

Diagnosis

Diagnosis of Myasthenic Syndrome, Congenital, Type 20, Presynaptic typically involves a combination of clinical evaluation, genetic testing, and electrophysiological studies. A blood test can identify mutations in the SLC5A7 gene, and electrophysiological studies can measure the response of muscles to nerve stimulation.

NGS Genetic DNA Test

NGS Genetic DNA testing is a powerful tool for identifying genetic mutations. It uses next-generation sequencing technology to analyze the entire genome, allowing for the detection of even rare genetic variations. NGS Genetic DNA testing can be used to diagnose Myasthenic Syndrome, Congenital, Type 20, Presynaptic by identifying mutations in the SLC5A7 gene.

Cost

The cost of the NGS Genetic DNA test for Myasthenic Syndrome, Congenital, Type 20, Presynaptic in India is typically around INR 20,000.

Conclusion

Myasthenic Syndrome, Congenital, Type 20, Presynaptic is a rare genetic disorder that affects the neuromuscular junction. It is caused by mutations in the SLC5A7 gene, which can be identified using NGS Genetic DNA testing. If you or a loved one is experiencing symptoms of Myasthenic Syndrome, Congenital, Type 20, Presynaptic, it is important to seek medical attention and consider genetic testing for an accurate diagnosis.

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 SLC5A7 Gene Myasthenic syndrome, congenital, type 20, presynaptic NGS Genetic DNA Test