Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel

Casandra

Casandra Test Code AR76389Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 2012155CPT Codes 81324, 81448

Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel

Also known as: CMT REFLEX

Clinical Use

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Use

The Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel is recommended for the initial evaluation of suspected CMT1 or CMT1A. It begins with PMP22 gene deletion/duplication analysis, and if the results are negative or inconclusive, the test reflexes to sequencing of other genes related to CMT and hereditary neuropathies. This comprehensive approach enhances the likelihood of detecting pathogenic variants associated with these conditions.

Special Instructions

Submit a Non-Permitted Laboratory Request Form (NPL) to the NYDOH prior to collection if patient is from New York, as this test is not New York state approved. Ensure to submit the Charcot-Marie-Tooth (CMT) and Hereditary Neuropathy Testing Patient History Form along with the Informed Consent for Genetic Testing for NY patients.

Limitations

This test only detects variants within the coding regions and intron-exon boundaries of the targeted genes. It does not identify regulatory region variants, deep intronic variants, or breakpoints of large deletions/duplications. Single exon deletions/duplications may not be detected depending on the rearrangement's breakpoints. Technical aspects such as pseudogenes, repetitive regions, or homologous regions may hamper variant identification. Additionally, non-coding transcripts are not analyzed. Diagnostic errors might occur due to rare sequence variations or low-level somatic variants.

Test Details

Methodology

NGS (Targeted)

Biomarkers

Mutation (76 genes)

AARSAIFM1ATL1ATP7ABAG3BICD2BSCL2CCT5DCTN1DHTKD1DNAJB2DNM2DNMT1DYNC1H1EGR2ELP1FBLN5FGD4FIG4GANGARSGDAP1GJB1GNB4HARSHEXAHINT1HOXD10HSPB1HSPB3HSPB8IGHMBP2INF2KARSKIF1AKIF1BKIF5ALAS1LLITAFLMNALRSAM1MARSMED25MFN2MORC2MPZMTMR2NDRG1NEFLNGFNTRK1PDK3PLEKHG5PMP22PRNPPRPS1PRXRAB7AREEP1RETREG1SBF1SBF2SCN9ASETXSH3TC2SLC12A6SLC5A7SPTLC1SPTLC2TDP1TFGTRIM2TRPV4TTRWNK1YARS