Casandra
Casandra Test Code GE18613Version 1 (DRAFT)
Performing Lab
Lab GeneDxLab Test ID 737
Hereditary Neuropathy Panel
Clinical Use
Order TestUse
This test is a comprehensive gene sequencing and deletion/duplication analysis of 89 genes associated with hereditary neuropathies, intended for diagnostic evaluation of individuals with suspected inherited neuropathy syndromes (GeneDx Neurology Test Requisition; Test Code 737)
Special Instructions
Not provided.
Limitations
GeneDx frequently updates gene content; the specific gene list and technical limitations may change and users are referred to the GeneDx website for the most current information (as noted on the Neurology Test Requisition Form)
Test Details
Methodology
NGS (Targeted)
Biomarkers
Mutation (89 genes)
AARSABHD12AIFM1ATL1ATL3ATP7ABAG3BICD2BSCL2CHCHD10CNTNAP1COX6A1CYP27A1DNAJB2DNM2DNMT1DSTDYNC1H1EGR2ELP1RETREG1FBXO38FGD4FIG4GANGARSGDAP1GJB1GLAGNB4HADHAHARSHINT1HSPB1HSPB8IGHMBP2INF2KARSKIF1AKIF5ALITAFLMNALRSAM1MFN2MMEMORC2MPV17MPZMTMR2NDRG1NEFHNEFLNGFNTRK1PDK3PLEKHG5PMP22PNKPPRDM12PRPS1PRXRAB7AREEP1SBF1SBF2SCN11ASCN9ASCO2SEPT9SETXSH3TC2SIGMAR1SLC12A6SLC25A46SLC52A2SLC52A3SLC5A7SPG11SPTLC1SPTLC2TFGTRIM2TRPV4TTRVAPBVCPVRK1WNK1YARS
Result Turnaround Time
28 days
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Similar Tests
Other tests from different labs that may be relevant
Invitae Comprehensive Neuropathies Panel
Invitae Corporation
Comprehensive Peripheral Neuropathy Gene Panel, Varies
Mayo Clinic Lab
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel
ARUP Laboratories
Inherited Motor and Sensory Neuropathy Gene Panel, Varies
Mayo Clinic Lab
Invitae Hereditary Sensory and Autonomic Neuropathy Panel
Invitae Corporation
Inherited Motor Neuropathy Gene Panel, Varies
Mayo Clinic Lab
Invitae Hereditary Motor Neuropathy Panel
Invitae Corporation
Comprehensive Neuromuscular Gene Panel, Varies
Mayo Clinic Lab
Invitae Charcot-Marie-Tooth Disease Comprehensive Panel
Invitae Corporation
Optic Atrophy and Neuropathy Panel
Prevention Genetics