Test Name	PMP22 Gene Roussy-Levy syndrome NGS Genetic DNA Test
Test type	Neurologist
Pre-test Information	Clinical History of Patient who is going for PMP22 Gene Roussy-Levy syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PMP22 Gene Roussy-Levy syndrome
Report Delivery	3 to 4 Weeks
Components
Price	₹ 20000
Method	NGS Technology

Short Description

NGS genetic DNA test detecets for variant and mutation detection in PMP22 gene for Roussy-Levy syndrome

PreTest Information

Clinical History of Patient who is going for PMP22 Gene Roussy-Levy syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PMP22 Gene Roussy-Levy syndrome

Detail Description

PMP22 Gene Roussy-Levy Syndrome NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

Introduction

Roussy-Levy syndrome is a rare genetic disorder that affects the nervous system. It is caused by mutations in the PMP22 gene, which is responsible for producing a protein that helps in the formation of the myelin sheath that covers nerve fibers. This disorder is characterized by weakness and wasting of the muscles, abnormal gait, and loss of sensation in the feet and hands. The diagnosis of this disorder can be done through genetic testing, specifically Next Generation Sequencing (NGS) of the PMP22 gene. In this blog, we will discuss the symptoms, diagnosis, and cost of the PMP22 Gene Roussy-Levy Syndrome NGS Genetic DNA Test.

Symptoms of Roussy-Levy Syndrome

The symptoms of Roussy-Levy syndrome usually start appearing in childhood or early adolescence. The most common symptoms of this disorder include:

• Weakness and wasting of the muscles, particularly in the legs and feet
• Abnormal gait, such as walking on the toes or the heels
• Loss of sensation in the feet and hands
• Tremors or involuntary movements of the limbs
• Abnormal curvature of the spine (scoliosis)
• Difficulty in speaking or swallowing

Diagnosis of Roussy-Levy Syndrome

The diagnosis of Roussy-Levy syndrome can be done through genetic testing. The most common genetic test used for this disorder is NGS of the PMP22 gene. This test involves sequencing the entire gene to identify any mutations that may be responsible for the disorder. The test can be done on a blood sample or a saliva sample. The results of the test can help confirm the diagnosis of the disorder and also provide information about the specific mutation that is responsible for the disorder.

Cost of PMP22 Gene Roussy-Levy Syndrome NGS Genetic DNA Test

The cost of the PMP22 Gene Roussy-Levy Syndrome NGS Genetic DNA Test in India is around INR 20,000. However, the cost may vary depending on the laboratory or testing facility where the test is conducted. It is important to consult with a healthcare professional or a genetic counselor to understand the cost and other aspects of the test.

Conclusion

Roussy-Levy syndrome is a rare genetic disorder that can cause significant disability and impairment. The diagnosis of this disorder can be done through genetic testing, specifically NGS of the PMP22 gene. The cost of the test may vary depending on the laboratory or testing facility. If you or someone you know is showing symptoms of Roussy-Levy syndrome, it is important to consult with a healthcare professional or a genetic counselor to understand the diagnosis and treatment options available.

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 PMP22 Gene Roussy-Levy syndrome NGS Genetic DNA Test