Short Description

NGS genetic DNA test detecets for variant and mutation detection in CHRNE gene for Myasthenic syndrome, congenital

PreTest Information

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

Detail Description

CHRNE Gene Myasthenic Syndrome, Congenital NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Myasthenic syndrome is a group of diseases that cause muscle weakness and fatigue. One type of myasthenic syndrome is caused by mutations in the CHRNE gene, which is responsible for encoding the epsilon subunit of the acetylcholine receptor. This type of myasthenic syndrome is congenital, meaning it is present at birth.

The symptoms of CHRNE gene myasthenic syndrome can vary in severity. Common symptoms include:

• Muscle weakness, especially in the face, neck, and limbs
• Difficulty swallowing and speaking
• Shortness of breath
• Episodes of respiratory failure
• Difficulty controlling eye movements

Diagnosing CHRNE gene myasthenic syndrome can be challenging because its symptoms are similar to those of other neuromuscular disorders. However, DNA Labs India offers a congenital NGS genetic DNA test that can help diagnose this condition with high accuracy. This test analyzes the entire coding region of the CHRNE gene, allowing for the detection of mutations that cause myasthenic syndrome.

The cost of DNA Labs India's congenital NGS genetic DNA test for CHRNE gene myasthenic syndrome is INR:20000. This is an affordable price for a high-quality genetic test that can provide accurate results.

If you or a loved one is experiencing symptoms of myasthenic syndrome, it's important to seek medical attention. A diagnosis of CHRNE gene myasthenic syndrome can provide answers and help guide treatment decisions. Contact DNA Labs India today to learn more about our congenital NGS genetic DNA test for CHRNE gene myasthenic syndrome.

Congenital myasthenic syndromes (CMS) are a group of rare genetic disorders that affect the neuromuscular junction, the point where nerve cells connect with muscles. These syndromes result in muscle weakness and fatigue, particularly during repetitive movements. Mutations in the CHRNE gene have been associated with a specific subtype of CMS known as congenital myasthenic syndrome associated with epsilon subunit of acetylcholine receptor deficiency.

The CHRNE gene encodes the epsilon subunit of the acetylcholine receptor, which is essential for the transmission of signals from nerves to muscles. Mutations in this gene can lead to a deficiency or dysfunction of the acetylcholine receptor, disrupting neuromuscular transmission and causing muscle weakness.

Features of congenital myasthenic syndrome associated with CHRNE gene mutations can include:

• Muscle weakness and fatigue
• Difficulty with breathing and swallowing
• Variable severity of symptoms
• Potential improvement in muscle function with anticholinesterase medications

NGS (Next-Generation Sequencing) genetic DNA testing can help identify mutations in the CHRNE gene associated with congenital myasthenic syndrome. Genetic testing is an important tool for confirming the diagnosis and understanding the underlying genetic cause of the syndrome.

If you suspect that you or someone you know might have congenital myasthenic syndrome associated with CHRNE gene mutations, it's important to consult with a neurologist, medical geneticist, or healthcare professional with expertise in neuromuscular disorders. They can provide appropriate genetic testing, medical management, and supportive care recommendations tailored to the individual's needs.