Overview
Test order codeHelpLaboratory's order or catalog code for the test (used in the order requisition form).: CMT1E, PMP22
CMT Type1E, PMP22 (PMP22)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Mutation Confirmation
Loading data ......
Click Indication tab for more information.
Please complete the requisition provided. Signature of referring physician required.
Order URL HelpLink to the laboratory webpage with information about how to order this test. Please note that clicking on this link will open a new tab in your internet browser.: http://www.lhsc.on.ca/palm/molecular/panels.html#tooth
Specimen source
Cell culture
Isolated DNA
Peripheral (whole) blood
- Molecular Genetics
- DDeletion/duplication analysis
- Multiplex Ligation-dependent Probe Amplification (MLPA)
- Applied Biosystems 3730 capillary sequencing instrument
Next-Generation (NGS)/Massively parallel sequencing (MPS)
- CSequence analysis of the entire coding region
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
- Illumina MiSeq/NextSeq
- Applied Biosystems 3730 capillary sequencing instrument
Summary of what is tested
Loading data ......
Click Methodology tab for more
information.
Establish or confirm diagnosis
Predictive risk information for patient and/or family members
Point mutations in the PMP22 are associated CMT Type 1E
All coding exons and 20 bp of flanking intronic sequence are enriched using an LHSC custom targeted hybridization protocol (Roche Nimblegen), followed by high throughput sequencing (Illumina). This chemistry and analysis pipeline provides a highly sensitive and specific detection of sequence and copy number alterations in a single assay that exceeds the previous gold standard of Sanger sequence and MLPA. Sequence variants and copy number changes are assessed and interpreted using clinically validated algorithms and commercial software (SoftGenetics: Nextgene, Geneticist Assistant, Mutation Surveyor; and Alamut Visual). All genes have >1000x mean read depth coverage, with a minimum 200x coverage at a single nucleotide resolution. Mitochondrial DNA testing is validated for heteroplasmy detection sensitivity of 2-5%. All variants interpreted as either ACMG category 1, 2, or 3 (pathogenic, likely pathogenic, VUS; PMID: 25741868) are confirmed using Sanger sequencing, MLPA, or other assays. ACMG category 4 and 5 variants (likely benign, benign) are not reported, but are available upon request. 000 Please complete the requisition provided. Signature of referring physician required.
- Clinical Testing/Confirmation of Mutations Identified Previously
- Confirmation of research findings
- Custom Deletion/Duplication Testing
- Custom Sequence Analysis
- Custom mutation-specific/Carrier testing