Test Name	PLA2G6 Gene Infantile neuroaxonal dystrophy type 1 NGS Genetic DNA Test
Test type	Neurologist
Pre-test Information	Clinical History of Patient who is going for PLA2G6 Gene Infantile neuroaxonal dystrophy type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PLA2G6 Gene Infantile neuroaxonal dystrophy type 1
Report Delivery	3 to 4 Weeks
Components
Price	₹ 20000
Method	NGS Technology

Short Description

NGS genetic DNA test detecets for variant and mutation detection in PLA2G6 gene for Infantile neuroaxonal dystrophy type 1

PreTest Information

Clinical History of Patient who is going for PLA2G6 Gene Infantile neuroaxonal dystrophy type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PLA2G6 Gene Infantile neuroaxonal dystrophy type 1

Detail Description

PLA2G6 Gene Infantile Neuroaxonal Dystrophy Type 1 NGS Genetic DNA Test

Infantile neuroaxonal dystrophy (INAD) type 1 is a rare genetic disorder that affects the nervous system. It is caused by mutations in the PLA2G6 gene, which codes for a protein involved in the breakdown of fats in cells. INAD type 1 is an autosomal recessive disorder, which means that a child must inherit two copies of the mutated gene (one from each parent) to develop the disease. Symptoms of INAD type 1 usually appear in the first two years of life and can include delayed development, muscle stiffness, difficulty with movement, and loss of vision. As the disease progresses, affected individuals may develop seizures, cognitive decline, and difficulty swallowing. Diagnosis of INAD type 1 can be challenging, as the symptoms can be similar to other neurological disorders. However, genetic testing can confirm a diagnosis and identify the specific mutation in the PLA2G6 gene responsible for the disease. NGS (next-generation sequencing) is a powerful tool for genetic testing, allowing for the simultaneous analysis of multiple genes. DNA Labs India offers an NGS-based genetic test for INAD type 1 that analyzes the entire coding region of the PLA2G6 gene. The test has a sensitivity of greater than 99%, meaning that it is highly accurate in detecting mutations in the gene. The cost of the PLA2G6 gene INAD type 1 NGS genetic DNA test at DNA Labs India is INR 20,000. The test requires a small blood or saliva sample, which can be collected at one of DNA Labs India's partner clinics or hospitals. Early diagnosis of INAD type 1 is important for managing symptoms and providing appropriate care. Genetic testing can also help identify carriers of the mutated PLA2G6 gene, allowing for informed family planning decisions. In summary, the PLA2G6 gene INAD type 1 NGS genetic DNA test offered by DNA Labs India is a reliable and affordable option for diagnosing this rare genetic disorder. Early diagnosis and genetic counseling can help affected individuals and their families make informed decisions about treatment and future family planning.

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 PLA2G6 Gene Infantile neuroaxonal dystrophy type 1 NGS Genetic DNA Test