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Chronic Demyelinative Neuropathy Profile #347
Type of Disorder: Peripheral Neuropathy
Typical Presentation: Chronic, progressive demyelinating neuropathy
Disease(s) tested for: Charcot-Marie-Tooth disease, Type 1A (CMT1A), Charcot-Marie-Tooth disease, Type 1X (CMT1X/CMTX), MAG, SGPG, GD1b neuropathies
Test Details
Test Code: 347
Profile includes: Connexin32 Evaluation, MAG 'Dual Antigen'® Autoantibody Test, PMP22 Duplication/Deletion DNA Test
Informed Consent Required: Yes
Special Notes: Test currently pending NY state approval

This evaluation also includes the GD1b antibody test.

Technical Information
Utility: Detects anti-MAG and anti-SGPG antibodies via ELISA with Western blot confirmation; anti-GD1b antibodies; duplications/deletions in the PMP22 gene; and sequence variations and deletions in the Connexin32 gene
Methodology: Next Generation Sequencing, MLPA, ELISA and Western Blot
Reference Value: Please see individual test listings
Patents: 5,691,144, 6,001,576, 6,599,756, 6,951,763, 5,306,616, 5,645,993, 5,780,223
CPT Coding
The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
CPT 2013: 81324(1), 81403(1), 81479(1), 83520(3)
Shipping Considerations
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
Preferred Specimen Requirements
Type: Serum and whole blood
Minimum Volume: 2 mL serum, 10 mL whole blood
Collection Tube: Serum in red top. Blood in lavender top (EDTA)
Storage Conditions: Room temperature, avoid freezing
Shipping Conditions: Room temperature, ship same day. Must arrive at Athena within 48 hours after blood is drawn.
Test Turnaround: 21 days
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