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Recommendations when to order or not order the test. May include related or preferred tests.
Recommended initial test for suspected CMT1 or CMT1A. PMP22 gene deletion/duplication analysis is performed first. If negative or inconclusive, testing reflexes to sequencing of genes related to CMT and hereditary neuropathies.
New York DOH Approval Status
Indicates whether a test has been approved by the New York State Department of Health.
This test is not New York state approved. There are no New York state-approved laboratories available. Submit a Non-Permitted Laboratory Request Form (NPL) to the NYDOH prior to collection of specimen. If NPL is approved by NYDOH, and sample is received at ARUP, testing will be performed.
Specimen Required
Patient PreparationInstructions patient must follow before/during specimen collection.
CollectSpecimen type to collect. May include collection media, tubes, kits, etc.
Lavender or pink (EDTA), or yellow (ACD solution A or B).
Specimen PreparationInstructions for specimen prep before/after collection and prior to transport.
Transport 3 mL whole blood. (Min: 2 mL)
Storage/Transport TemperaturePreferred temperatures for storage prior to and during shipping to ARUP. See Stability for additional info.
Refrigerated. Also accetable: Ambient.
Unacceptable ConditionsCommon conditions under which a specimen will be rejected.
RemarksAdditional specimen collection, transport, or test submission information.
StabilityAcceptable times/temperatures for specimens. Times include storage and transport time to ARUP.
Expected turnaround time for a result, beginning when ARUP has received the specimen.
7-29 days Reported within 14 days if not reflexed.
Reference Interval
Normal range/expected value(s) for a specific disease state. May also include abnormal ranges.
By Report
Interpretive Data
May include disease information, patient result explanation, recommendations, or details of testing.
Refer to report.
Compliance Category
Laboratory Developed Test (LDT)
Note
Additional information related to the test.
Deletion/duplication analysis is performed on all samples. If no large deletions or duplications are detected and/or results do not explain the clinical scenario, then sequencing of the Charcot-Marie-Tooth and related hereditary neuropathy genes will be added. Additional charges apply. If reflexed, an additional 3-6 weeks is required to complete testing.
* One or more exons are not covered by sequencing for the indicated gene; see Additional Technical Information.
Hotline History
N/A
CPT Codes
The American Medical Association Current Procedural Terminology (CPT) codes published in ARUP's Laboratory Test Directory are provided for informational purposes only. The codes reflect our interpretation of CPT coding requirements based upon AMA guidelines published annually. CPT codes are provided only as guidance to assist clients with billing. ARUP strongly recommends that clients confirm CPT codes with their Medicare administrative contractor, as requirements may differ. CPT coding is the sole responsibility of the billing party. ARUP Laboratories assumes no responsibility for billing errors due to reliance on the CPT codes published.
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
Other names that describe the test. Synonyms.
Charcot-Marie-Tooth
CMT
CMT1
CMT1A
CMT2
CMT4
CMTX
Hereditary Motor Neuropathy (dHMN)
Hereditary Neuropathy
Hereditary Neuropathy with liability to Pressure Palsies (HNPP)
Hereditary Sensory and Autonomic Neuropathy (HSAN)
Hereditary Sensory Neuropathy (HSN)
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel
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