Short Description

NGS genetic DNA test detecets for variant and mutation detection in PQBP1 gene for Renpenning syndrome

PreTest Information

Clinical History of Patient who is going for PQBP1 Gene Renpenning syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PQBP1 Gene Renpenning syndrome

Detail Description

PQBP1 Gene Renpenning Syndrome NGS Genetic DNA Test Cost INR 20000 Symptoms Diagnosis

Renpenning syndrome is a rare genetic disorder that affects cognitive development, language skills, and physical growth. It is caused by mutations in the PQBP1 gene. The PQBP1 gene provides instructions for making a protein that is involved in the development and functioning of nerve cells in the brain. Mutations in this gene can disrupt the normal development and function of these cells, leading to the features of Renpenning syndrome.

Symptoms of Renpenning Syndrome

The symptoms of Renpenning syndrome can vary greatly from person to person, even among members of the same family. The most common features of the condition include:

• Intellectual disability or developmental delay
• Speech and language problems
• Microcephaly (small head size)
• Short stature
• Abnormal facial features, such as a small head, a small jaw, and widely spaced eyes
• Behavioral problems, such as hyperactivity and aggression

Diagnosis of Renpenning Syndrome

Diagnosis of Renpenning syndrome is based on clinical features and genetic testing. The genetic test for Renpenning syndrome involves sequencing the PQBP1 gene, which can identify mutations that cause the condition. Genetic testing can also identify carriers of the mutation who may not have any symptoms.

NGS Genetic DNA Test Cost INR 20000

The cost of the NGS Genetic DNA Test for Renpenning syndrome is INR 20000. This test is available at DNA Labs India, a leading provider of genetic testing services in India. The test involves sequencing the PQBP1 gene to identify mutations that cause Renpenning syndrome. The test is performed using next-generation sequencing (NGS) technology, which allows for faster and more accurate analysis of genetic information.

Conclusion

Renpenning syndrome is a rare genetic disorder that affects cognitive development, language skills, and physical growth. It is caused by mutations in the PQBP1 gene. The symptoms of Renpenning syndrome can vary greatly from person to person, and diagnosis is based on clinical features and genetic testing. The NGS Genetic DNA Test for Renpenning syndrome is available at DNA Labs India for a cost of INR 20000. If you or a loved one are experiencing symptoms of Renpenning syndrome, speak to your doctor about genetic testing options.

For more information about DNA Labs India and our genetic testing services, visit our website or contact us today.

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 PQBP1 Gene Renpenning syndrome NGS Genetic DNA Test