Short Description

NGS genetic DNA test detecets for variant and mutation detection in PIK3R2 gene for Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

PreTest Information

Clinical History of Patient who is going for PIK3R2 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PIK3R2 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome NGS Genetic DNA Test gene PIK3R2

Detail Description

PIK3R2 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome NGS Genetic DNA Test

PIK3R2 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH) is a rare genetic disorder that affects the brain and limbs of an individual. This condition is caused by mutations in the PIK3R2 gene. The PIK3R2 gene provides instructions for making a protein that is involved in the development and function of the brain. Mutations in this gene disrupt normal brain development, resulting in an abnormal growth of the brain (megalencephaly) and the formation of small, abnormal folds in the brain's surface (polymicrogyria).

Other features of MPPH syndrome include extra fingers or toes (polydactyly) and an accumulation of cerebrospinal fluid in the brain (hydrocephalus). The severity of these symptoms can vary widely, even among individuals with the same genetic mutation.

Symptoms of PIK3R2 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

The symptoms of PIK3R2 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome vary widely, but may include:

• Abnormal head size or shape
• Small head circumference
• Developmental delays
• Intellectual disability
• Seizures
• Extra fingers or toes
• Hydrocephalus
• Abnormalities in the structure of the brain

Diagnosis of PIK3R2 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

PIK3R2 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome is diagnosed through genetic testing. Next-generation sequencing (NGS) is a DNA test that can detect mutations in the PIK3R2 gene. This test involves sequencing the entire gene to identify any changes in the DNA sequence that may be causing the disorder. NGS is a highly accurate and reliable method for detecting genetic mutations.

Cost of PIK3R2 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome NGS Genetic DNA Test

The cost of PIK3R2 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome NGS Genetic DNA Test in India is INR 20,000. This cost includes the DNA test and the interpretation of the results by a genetic counselor or physician.

Conclusion

PIK3R2 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome is a rare genetic disorder that affects the brain and limbs. Genetic testing, such as NGS, is a highly accurate and reliable method for detecting mutations in the PIK3R2 gene. The cost of the test in India is INR 20,000, which includes the DNA test and the interpretation of the results by a genetic counselor or physician. Early diagnosis of this disorder can help individuals and their families to better manage the symptoms and plan for the future.

If you or a loved one is experiencing symptoms of PIK3R2 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, consult with a genetic counselor or physician to discuss genetic testing options and treatment options.

At DNA Labs India, we offer a range of genetic testing services, including NGS, to help individuals and families better understand their genetic makeup and manage genetic disorders. Contact us today to learn more about our services.

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 PIK3R2 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome NGS Genetic DNA Test