Short Description

NGS genetic DNA test detecets for variant and mutation detection in VRK1 gene for Pontocerebellar hypoplasia type 1A

PreTest Information

Clinical History of Patient who is going for VRK1 Gene Pontocerebellar hypoplasia type 1A NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with VRK1 Gene Pontocerebellar hypoplasia type 1A

Detail Description

VRK1 Gene Pontocerebellar Hypoplasia Type 1A NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Pontocerebellar hypoplasia type 1A (PCH1A) is a rare genetic disorder that affects the development of the brain. It is caused by mutations in the VRK1 gene, which provides instructions for making a protein that is essential for normal brain development.

PCH1A is characterized by an underdevelopment (hypoplasia) of the cerebellum and pons, two parts of the brain that are important for coordinating movement and regulating breathing, heart rate, and other automatic functions of the body. Symptoms of PCH1A typically appear in infancy and may include weak muscle tone (hypotonia), difficulty with feeding and swallowing, seizures, and developmental delays.

At DNA Labs India, we offer a Next-Generation Sequencing (NGS) genetic DNA test for the VRK1 gene to diagnose PCH1A. This test can detect mutations in the VRK1 gene with high accuracy and reliability. The cost of this test is INR 20000.

If you suspect that you or your child may have PCH1A, it is important to seek medical attention promptly. A diagnosis of PCH1A can be confirmed with a genetic test, such as the VRK1 gene NGS test offered at DNA Labs India. Early diagnosis and treatment can help improve outcomes for individuals with PCH1A.

At DNA Labs India, we provide accurate and reliable genetic testing services in India. Our team of expert geneticists and counselors can help you understand your test results and provide guidance on how to manage your condition. 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 VRK1 Gene Pontocerebellar hypoplasia type 1A NGS Genetic DNA Test