Short Description

NGS genetic DNA test detecets for variant and mutation detection in PMP22 gene for Neuropathy with liability to pressure palsies [HNPP]

PreTest Information

Clinical History of Patient who is going for PMP22 Gene Neuropathy with liability to pressure palsies [HNPP] NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PMP22 Gene Neuropathy with liability to pressure palsies [HNPP]

Detail Description

PMP22 Gene Neuropathy with Liability to Pressure Palsies [HNPP] NGS Genetic DNA Test

HNPP, or hereditary neuropathy with liability to pressure palsies, is a rare genetic disorder that affects the peripheral nerves. It is caused by a deletion on chromosome 17p12 that results in a reduced number of copies of the PMP22 gene.

The PMP22 gene is important for the production of a protein called peripheral myelin protein 22, which is involved in the formation and maintenance of myelin, the insulation that surrounds nerve fibers. In people with HNPP, the reduced number of copies of the PMP22 gene leads to a decrease in the production of this protein, which results in a loss of myelin and damage to the peripheral nerves.

Symptoms of HNPP

People with HNPP may experience a variety of symptoms, including:

• Weakness in the arms and legs
• Tingling or numbness in the hands and feet
• Loss of muscle mass
• Difficulty with fine motor tasks, such as buttoning clothes
• Foot drop
• Difficulty walking
• Pain or cramping in the affected limbs
• Episodes of weakness or numbness triggered by pressure or repetitive motion

Diagnosis of HNPP

Diagnosis of HNPP is typically based on a combination of clinical symptoms, family history, and genetic testing. A nerve conduction study may also be used to evaluate nerve function.

NGS Genetic DNA Test for HNPP

A next-generation sequencing (NGS) genetic DNA test can be used to detect the deletion on chromosome 17p12 that causes HNPP. This test analyzes the DNA sequence of the PMP22 gene to determine if the deletion is present.

Cost of NGS Genetic DNA Test for HNPP

The cost of the NGS genetic DNA test for HNPP is INR 20,000.

Conclusion

HNPP is a rare genetic disorder that can cause a variety of symptoms related to peripheral nerve damage. Diagnosis is typically based on a combination of clinical symptoms, family history, and genetic testing. The NGS genetic DNA test for HNPP is a reliable and accurate method for detecting the deletion on chromosome 17p12 that causes the disorder. If you or a loved one is experiencing symptoms of HNPP, talk to your doctor about whether genetic testing may be appropriate.

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 Neuropathy with liability to pressure palsies [HNPP] NGS Genetic DNA Test