PMP22 Gene Neuropathy with Liability to Pressure Palsies HNPP Genetic Test
At DNA Labs UAE, we offer the PMP22 Gene Neuropathy with Liability to Pressure Palsies HNPP Genetic Test to diagnose and manage this genetic disorder. This test is specifically designed for individuals with suspected HNPP and is conducted using NGS (Next-Generation Sequencing) technology.
Test Details
PMP22 gene neuropathy with liability to pressure palsies (HNPP) is a genetic disorder that affects the peripheral nerves. It is caused by mutations in the PMP22 gene, which is responsible for the production of a protein called peripheral myelin protein 22. Individuals with HNPP have a reduced amount of this protein, leading to abnormalities in the myelin sheath that surrounds and protects the peripheral nerves.
The symptoms of HNPP typically include episodes of weakness, numbness, and tingling in the affected limbs. These symptoms often occur after pressure or trauma to the nerves, such as leaning on an elbow or crossing legs for an extended period. The weakness and sensory changes usually resolve on their own after a period of rest.
Test Components and Price
The PMP22 Gene Neuropathy with Liability to Pressure Palsies HNPP Genetic Test is priced at 4400.0 AED. The test requires a blood sample or extracted DNA, or one drop of blood on an FTA card for analysis.
Report Delivery
The test results will be delivered within 3 to 4 weeks after the sample is received.
Test Method
The PMP22 Gene Neuropathy with Liability to Pressure Palsies HNPP Genetic Test is conducted using NGS technology. This advanced sequencing method allows for the identification of any abnormalities or mutations in the PMP22 gene that may be causing the disorder.
Test Type and Doctor
The PMP22 Gene Neuropathy with Liability to Pressure Palsies HNPP Genetic Test falls under the category of neurological disorders. It is recommended to consult with a neurologist who specializes in genetic testing for accurate diagnosis and appropriate treatment.
Test Department and Pre Test Information
The PMP22 Gene Neuropathy with Liability to Pressure Palsies HNPP Genetic Test is conducted in our Genetics department. Prior to the test, it is essential to provide the clinical history of the patient who is undergoing the test. Additionally, a genetic counseling session may be required to draw a pedigree chart of family members affected by PMP22 Gene Neuropathy with Liability to Pressure Palsies HNPP.
Importance of Genetic Testing
Genetic testing using NGS technology is a valuable diagnostic tool for individuals suspected to have HNPP. It can provide a definitive diagnosis, identify family members at risk, and guide genetic counseling and reproductive planning. It is crucial to note that genetic testing for HNPP is typically performed in specialized genetic testing laboratories and must be ordered by a healthcare professional.
At DNA Labs UAE, we are committed to providing accurate and reliable genetic testing services. Our PMP22 Gene Neuropathy with Liability to Pressure Palsies HNPP Genetic Test can help individuals and healthcare professionals make informed decisions regarding treatment and management strategies for this genetic disorder.
| Test Name | PMP22 Gene Neuropathy with liability to pressure palsies HNPP Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card o |
| Report Delivery | 3 to 4 Weeks |
| Method | NGS Technology |
| Test type | Neurological Disorders |
| Doctor | Neurologist |
| Test Department: | Genetics |
| Pre Test 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] |
| Test Details |
PMP22 gene neuropathy with liability to pressure palsies (HNPP) is a genetic disorder that affects the peripheral nerves. It is caused by mutations in the PMP22 gene, which is involved in the production of a protein called peripheral myelin protein 22. People with HNPP have a reduced amount of this protein, leading to abnormalities in the myelin sheath that surrounds and protects the peripheral nerves. As a result, the nerves become more susceptible to damage, especially under pressure or with repetitive motions. The symptoms of HNPP typically include episodes of weakness, numbness, and tingling in the affected limbs. These symptoms often occur after pressure or trauma to the nerves, such as leaning on an elbow or crossing legs for an extended period. The weakness and sensory changes usually resolve on their own after a period of rest. NGS (Next-Generation Sequencing) genetic testing is a diagnostic tool used to identify genetic mutations associated with HNPP. It involves sequencing the DNA of the PMP22 gene to identify any abnormalities or mutations that may be causing the disorder. This type of testing can provide a definitive diagnosis for individuals with suspected HNPP and help guide appropriate treatment and management strategies. It is important to note that genetic testing for HNPP is typically done in specialized genetic testing laboratories and requires a healthcare professional to order the test. The results of the genetic test can help confirm the diagnosis, identify family members at risk, and guide genetic counseling and reproductive planning. |
