Short Description

NGS genetic DNA test detecets for variant and mutation detection in FKTN gene for Fukuyama congenital muscular dystrophy

PreTest Information

Clinical History of Patient who is going for FKTN Gene Fukuyama congenital muscular dystrophy NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with FKTN Gene Fukuyama congenital muscular dystrophy

Detail Description

FKTN Gene Fukuyama Congenital Muscular Dystrophy NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

FKTN gene Fukuyama congenital muscular dystrophy is a rare genetic disorder that affects muscle development in infants. It is caused by mutations in the FKTN gene, which is responsible for producing a protein called fukutin. This protein is essential for the proper development of muscle tissue.

The symptoms of FKTN gene Fukuyama congenital muscular dystrophy usually appear at birth or within the first few months of life. These symptoms include:

• Muscle weakness and poor muscle tone
• Difficulty with movement and mobility
• Joint contractures
• Delayed motor skills
• Cognitive impairment

Diagnosis of FKTN gene Fukuyama congenital muscular dystrophy can be done through a genetic test. Next-generation sequencing (NGS) genetic testing is a high-throughput method of DNA sequencing that can detect mutations in the FKTN gene. The cost of an NGS genetic DNA test for FKTN gene Fukuyama congenital muscular dystrophy in India is approximately INR 20,000.

Early diagnosis of FKTN gene Fukuyama congenital muscular dystrophy is important for proper management and treatment. While there is no cure for this condition, treatment options include physical therapy, occupational therapy, and medications to manage symptoms.

In conclusion, FKTN gene Fukuyama congenital muscular dystrophy is a rare genetic disorder that affects muscle development in infants. A genetic test using NGS technology can diagnose this condition, and the cost of the test is approximately INR 20,000 in India. Early diagnosis and treatment are important for managing symptoms and improving outcomes for affected individuals.

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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 FKTN Gene Fukuyama congenital muscular dystrophy NGS Genetic DNA Test