Short Description

NGS genetic DNA test detecets for variant and mutation detection in TSEN2 gene for Pontocerebellar hypoplasia type 2B

PreTest Information

Clinical History of Patient who is going for TSEN2 Gene Pontocerebellar hypoplasia type 2B NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TSEN2 Gene Pontocerebellar hypoplasia type 2B

Detail Description

TSEN2 Gene and Pontocerebellar Hypoplasia Type 2B

Pontocerebellar hypoplasia type 2B (PCH2B) is a rare genetic disorder that affects the development of the brain. It is caused by mutations in the TSEN2 gene. This gene is responsible for producing a protein that is involved in the processing of transfer RNA (tRNA) molecules. tRNAs are essential for the translation of genetic information into proteins.

PCH2B is characterized by the underdevelopment (hypoplasia) of the cerebellum and pons, two regions of the brain that are important for motor control and balance. Symptoms typically appear in infancy or early childhood and may include weak muscle tone (hypotonia), difficulty with feeding, developmental delay, seizures, and breathing problems.

Diagnosis of PCH2B

The diagnosis of PCH2B is typically made through genetic testing. Next-generation sequencing (NGS) is a powerful tool that can detect mutations in multiple genes simultaneously, making it an ideal method for diagnosing genetic disorders like PCH2B.

NGS testing for PCH2B involves sequencing the TSEN2 gene to identify mutations that may be causing the disorder. This type of testing can be performed on a blood or saliva sample and typically takes a few weeks to complete.

Cost of NGS Genetic DNA Test for PCH2B

The cost of an NGS genetic DNA test for PCH2B in India is typically around INR 20,000. This cost may vary depending on the specific laboratory or testing facility used.

Conclusion

Pontocerebellar hypoplasia type 2B is a rare genetic disorder caused by mutations in the TSEN2 gene. NGS genetic DNA testing can be used to diagnose PCH2B and is typically available at a cost of around INR 20,000 in India. If you suspect that you or your child may have PCH2B, it is important to speak with a healthcare provider or genetic counselor to discuss testing options and potential treatment options.

At DNA Labs India, we offer NGS genetic DNA testing for a variety of genetic disorders, including PCH2B. Our team of genetic counselors and healthcare professionals can help you understand your testing options and provide guidance throughout the testing process. Contact us today to learn more.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with a clinical test report from the 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 TSEN2 Gene Pontocerebellar hypoplasia type 2B NGS Genetic DNA Test