Short Description

NGS genetic DNA test detecets for variant and mutation detection in TSEN54 gene for Pontocerebellar hypoplasia type 2A

PreTest Information

Clinical History of Patient who is going for TSEN54 Gene Pontocerebellar hypoplasia type 2A NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TSEN54 Gene Pontocerebellar hypoplasia type 2A

Detail Description

TSEN54 Gene Pontocerebellar Hypoplasia Type 2A NGS Genetic DNA Test Cost: INR 20000 Symptoms Diagnosis

Pontocerebellar hypoplasia type 2A (PCH2A) is a rare genetic disorder that affects the development of the brain. It is caused by mutations in the TSEN54 gene and can lead to severe intellectual disability, developmental delay, and other neurological symptoms. A genetic DNA test can help diagnose PCH2A and other related conditions.

Symptoms of PCH2A

The symptoms of PCH2A can vary in severity, but typically include:

• Severe intellectual disability
• Developmental delay
• Weakness or stiffness in the limbs
• Abnormal muscle tone
• Difficulty swallowing
• Seizures
• Abnormal breathing
• Visual impairment

These symptoms usually appear in infancy or early childhood and may worsen over time.

Diagnosing PCH2A

PCH2A is a rare disorder, and diagnosis can be difficult. A genetic DNA test can help confirm a suspected diagnosis of PCH2A and rule out other conditions with similar symptoms. The TSEN54 gene is responsible for encoding a protein that is involved in the processing of transfer RNA (tRNA) molecules. Mutations in this gene can disrupt this process, leading to the symptoms of PCH2A.

A genetic DNA test for PCH2A typically involves next-generation sequencing (NGS) of the TSEN54 gene. This test can identify mutations in the gene and help diagnose PCH2A. The test is usually performed on a blood or saliva sample and can take several weeks to process.

The Cost of PCH2A Genetic DNA Testing

The cost of genetic DNA testing for PCH2A can vary depending on the laboratory performing the test and the location. At DNA Labs India, the cost of PCH2A NGS genetic DNA testing is INR 20000. This cost includes the test, sample collection, and analysis.

Why Choose DNA Labs India for PCH2A Genetic DNA Testing?

DNA Labs India is a leading provider of genetic DNA testing services in India. We use state-of-the-art technology and techniques to provide accurate and reliable results. Our team of experienced geneticists and counselors can help you understand your test results and provide guidance on how to manage your condition. We are committed to providing our clients with the highest level of service and support.

If you suspect that you or a loved one may have PCH2A or another genetic disorder, contact DNA Labs India to learn more about our genetic DNA testing services.

Contact us today to schedule a consultation or 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 TSEN54 Gene Pontocerebellar hypoplasia type 2A NGS Genetic DNA Test