Short Description

NGS genetic DNA test detecets for variant and mutation detection in PIEZO2 gene for Marden-Walker syndrome

PreTest Information

Clinical History of Patient who is going for PIEZO2 Gene Marden-Walker syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PIEZO2 Gene Marden-Walker syndrome NGS Genetic DNA Test gene PIEZO2

Detail Description

PIEZO2 Gene and Marden-Walker Syndrome: Symptoms, Diagnosis and NGS Genetic DNA Test Cost in India

PIEZO2 gene is a gene that codes for a protein involved in the development and functioning of the nervous system. Mutations in this gene have been linked to a rare genetic disorder known as Marden-Walker syndrome (MWS). This syndrome is characterized by multiple anomalies such as joint contractures, facial dysmorphism, and intellectual disability.

Symptoms of Marden-Walker Syndrome

The symptoms of Marden-Walker syndrome can vary widely depending on the individual and the severity of the condition. However, some of the most common symptoms include:

• Joint contractures
• Facial dysmorphism
• Intellectual disability
• Visual impairment
• Respiratory problems

Diagnosis of Marden-Walker Syndrome

Diagnosis of Marden-Walker syndrome typically involves a clinical evaluation by a geneticist or other healthcare provider. In addition, genetic testing may be performed to confirm the diagnosis and identify any mutations in the PIEZO2 gene.

NGS genetic DNA testing is a powerful tool that can be used to identify mutations in the PIEZO2 gene quickly and accurately. This test involves sequencing the entire gene and looking for any mutations or variations that may be present.

NGS Genetic DNA Test Cost in India

The cost of NGS genetic DNA testing for Marden-Walker syndrome in India can vary depending on the testing laboratory and the specific type of testing being performed. However, most labs offer this test for around INR 20,000.

Conclusion

Marden-Walker syndrome is a rare genetic disorder caused by mutations in the PIEZO2 gene. Symptoms can vary widely, but typically include joint contractures, facial dysmorphism, and intellectual disability. Diagnosis involves a clinical evaluation and genetic testing, including NGS genetic DNA testing. The cost of this testing in India is typically around INR 20,000.

If you suspect that you or a loved one may be suffering from Marden-Walker syndrome, it is important to seek medical attention as soon as possible. With early diagnosis and treatment, individuals with this condition can lead fulfilling lives and achieve their full potential.

For more information on NGS genetic DNA testing and other genetic testing options, contact DNA Labs India 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 PIEZO2 Gene Marden-Walker syndrome NGS Genetic DNA Test