Short Description

NGS genetic DNA test detecets for variant and mutation detection in LAMA3 gene for Laryngoonychocutaneous syndrome

PreTest Information

Clinical History of Patient who is going for LAMA3 Gene Laryngoonychocutaneous syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with LAMA3 Gene Laryngoonychocutaneous syndrome NGS Genetic DNA Test gene LAMA3

Detail Description

LAMA3 Gene Laryngoonychocutaneous Syndrome NGS Genetic DNA Test

Laryngoonychocutaneous syndrome (LOCS) is a rare genetic disorder that affects the skin, nails, and mucous membranes. It is caused by mutations in the LAMA3 gene. The LAMA3 gene provides instructions for making a protein called laminin-332. This protein is important for the formation and maintenance of the skin, nails, and mucous membranes. When the LAMA3 gene is mutated, laminin-332 is not produced correctly, leading to the symptoms of LOCS.

Symptoms of LOCS

The symptoms of LOCS can vary from person to person, but typically include:

• Blistering and peeling of the skin, especially on the hands and feet
• Abnormal thickening of the nails
• Scarring of the skin
• Redness and swelling of the mucous membranes
• Difficulty breathing and swallowing

The severity of the symptoms can also vary. Some people with LOCS have mild symptoms, while others have severe symptoms that can be life-threatening.

Diagnosis of LOCS

LOCS is diagnosed through a combination of physical examination, medical history, and genetic testing. A dermatologist or geneticist will examine the skin and nails for signs of LOCS. They may also take a biopsy of the skin to examine it under a microscope.

Genetic testing can confirm the diagnosis of LOCS. This typically involves a Next Generation Sequencing (NGS) genetic DNA test, which looks for mutations in the LAMA3 gene. The cost of an NGS genetic DNA test for LOCS in India is typically around INR 20,000.

Treatment of LOCS

There is no cure for LOCS, so treatment is focused on managing the symptoms. This can include:

• Protecting the skin and nails from further damage
• Using topical creams and ointments to soothe the skin
• Taking pain relievers to manage discomfort
• Using feeding tubes or other devices to help with breathing and swallowing

People with LOCS may also need to see a team of specialists, including a dermatologist, geneticist, and pulmonologist, to manage their symptoms.

Conclusion

Laryngoonychocutaneous syndrome is a rare genetic disorder that can have serious implications for those affected. However, with the right diagnosis and management, people with LOCS can live full and meaningful lives. If you or a loved one are experiencing symptoms of LOCS, it is important to seek medical attention and consider genetic testing to confirm the 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 LAMA3 Gene Laryngoonychocutaneous syndrome NGS Genetic DNA Test