Short Description

MPZ Full Length Gene Sequence Analysis (Charcot- Maria-Tooth Disease) is performed using Sanger Sequencing methodology. Sample that have to be given is Peripheral blood/Amniotic Fluid/ Chorionic villi/ Cord blood in Sterile container/ Sterile Normal Saline Container/ EDTA Vacutainer (2ml) for this test. You can expect results in 3-4 weeks

PreTest Information

MPZ Full Length Gene Sequence Analysis (Charcot- Maria-Tooth Disease) can be done with a Doctor’s prescription. Prescription is not applicable for surgery and pregnancy cases or people planing to travel abroad.

Detail Description

MPZ Full Length Gene Sequence Analysis for Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth Disease (CMT) is a group of inherited disorders that affect the peripheral nerves, causing weakness and sensory loss in the arms and legs. It is one of the most common inherited neurological disorders, affecting around 1 in 2,500 people worldwide. CMT is caused by mutations in various genes, including the MPZ gene.

The MPZ gene provides instructions for making a protein called myelin protein zero, which is essential for the formation and maintenance of myelin, a fatty substance that covers and protects nerve fibers. Mutations in the MPZ gene can lead to abnormal myelin formation, resulting in the signs and symptoms of CMT.

Symptoms of Charcot-Marie-Tooth Disease

The symptoms of CMT can vary widely, even among members of the same family. The most common symptoms include:

• Muscle weakness and wasting in the feet, ankles, legs, and hands
• Loss of sensation in the feet and hands
• Difficulty with balance and coordination
• High arches or flat feet
• Foot drop
• Hammertoes or claw toes
• Progressive difficulty with walking and running

Diagnosis of Charcot-Marie-Tooth Disease

Diagnosis of CMT typically involves a combination of clinical evaluation, nerve conduction studies, electromyography, and genetic testing. Genetic testing is particularly important for confirming a diagnosis and identifying the specific gene mutation responsible for the disease.

MPZ Full Length Gene Sequence Analysis

MPZ Full Length Gene Sequence Analysis is a genetic test that examines the entire coding region of the MPZ gene, including all exons and intron-exon boundaries. This test is particularly useful for identifying rare or novel mutations in the MPZ gene that may be missed by other genetic tests.

MPZ Full Length Gene Sequence Analysis is performed using advanced sequencing technology and can be done using a blood or saliva sample. The test is highly accurate and has a sensitivity of over 99%.

Cost of MPZ Full Length Gene Sequence Analysis

The cost of MPZ Full Length Gene Sequence Analysis for Charcot-Marie-Tooth Disease at DNA Labs India is INR 30,000. This includes the cost of the test, genetic counseling, and interpretation of the results.

If you or a loved one are experiencing symptoms of Charcot-Marie-Tooth Disease, it is important to seek medical attention and genetic testing as soon as possible. Early diagnosis and treatment can help to manage symptoms and improve quality of life.