Charcot-Marie-Tooth and HNPP PMP22, COX10, TEKT3 Deletion/Duplication Analysis (MLPA)

• Test Type: Molecular Diagnostic Test
• Methodology: Multiplex Ligation-dependent Probe Amplification (MLPA)
• Target Genes: PMP22, COX10, TEKT3
• Purpose: Detect deletions and duplications in specific genes associated with Charcot-Marie-Tooth (CMT) disease and Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
• Applications: Genetic diagnosis and carrier testing for CMT1A and HNPP

• Disease Diagnosis: Identifying genetic causes of CMT and HNPP
• Carrier Detection: Determining carrier status in individuals with a family history of CMT or HNPP
• Risk Assessment: Evaluating the risk of passing on CMT or HNPP to offspring
• Clinical Management: Guiding treatment plans and management strategies for patients with confirmed deletions or duplications

• Sample Type: Blood or buccal swab
• Gene Probes: Probes specific for PMP22, COX10, and TEKT3
• Detection Range: Identification of large deletions or duplications in the target genes
• Report: Detailed results including presence or absence of genetic abnormalities, and their clinical significance

• Positive Result: Indicates the presence of a deletion or duplication in PMP22, COX10, or TEKT3, consistent with a diagnosis of CMT1A or HNPP
• Negative Result: No deletions or duplications detected in the target genes; other genetic causes may need to be investigated
• Variant of Uncertain Significance (VUS): A genetic change detected but its clinical significance is unclear, requiring further investigation

• Timeframe: Results typically available within 2-4 weeks after sample submission.
• Positive: Detection of a pathogenic deletion or duplication.
• Negative: No pathogenic deletion or duplication detected.
• VUS: Requires further studies or family testing for clarification.

Q. What is the purpose of the Charcot Marie Tooth And 1a Hnpp Pmp22 Coxi0 Tekt3 Deletion Duplication Analysis MLPA Test?
This test is used to detect large deletions or duplications in the PMP22, COX10, and TEKT3 genes, which are associated with Charcot-Marie-Tooth disease and Hereditary Neuropathy with Liability to Pressure Palsies
 

Q. Who should consider taking this test?
Individuals with symptoms of CMT or HNPP, those with a family history of these conditions, and people undergoing genetic counselling for these diseases should consider this test
 

Q. What type of sample is required for the test?
The test typically requires a blood sample or a buccal swab
 

Q. How long does it take to get the results?
Results are generally available within 2-4 weeks from the time the sample is received by the laboratory
 

Q. What do positive results indicate?
Positive results indicate the presence of deletions or duplications in the target genes, which are consistent with a diagnosis of CMT1A or HNPP
 

Q. What should I do if my test results are positive?
If your test results are positive, it is recommended to seek genetic counselling to understand the implications and to discuss further management and testing options for you and your family members
 

Q. Can the test results be negative even if I have symptoms of CMT or HNPP?
Yes, a negative result means no deletions or duplications were found in the tested genes, but it does not rule out other genetic causes of the symptoms, so additional testing may be necessary