Sign in →

Test ID IMSNP Inherited Motor and Sensory Neuropathy Gene Panel, Varies


Ordering Guidance


First tier testing for a diagnosis of Charcot-Marie-Tooth disease type 1 is available; order PMPDD / PMP22 Gene, Large Deletion/Duplication Analysis, Varies.

 

Targeted testing for familial variants (also called site-specific or known variants testing) is available for the genes on this panel. See FMTT / Familial Mutation, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.

 

Customization of this panel and single gene analysis for any gene present on this panel are available. For more information see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.



Shipping Instructions


Specimen preferred to arrive within 96 hours of collection.



Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Specimen Type: Whole blood

Container/Tube: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

Specimen Stability Information: Ambient (preferred)/Refrigerated


Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file.

The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing (Spanish) (T826)

2. Molecular Genetics: Neurology Patient Information

3. If not ordering electronically, complete, print, and send a Neurology Specialty Testing Client Test Request (T732) with the specimen.

Useful For

Establishing a molecular diagnosis for patients with hereditary motor and sensory neuropathy (HMSN) or Charcot-Marie-Tooth (CMT) disease

 

Identifying variants within genes known to be associated with HMSN or CMT disease, allowing for predictive testing of at-risk family members

Testing Algorithm

For more information see Hereditary Peripheral Neuropathy Diagnostic Algorithm

Method Name

Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing

Reporting Name

Motor and Sensory Neuropathy Panel

Specimen Type

Varies

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time
Varies Varies

Day(s) Performed

Varies

Report Available

28 to 42 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

81448

LOINC Code Information

Test ID Test Order Name Order LOINC Value
IMSNP Motor and Sensory Neuropathy Panel 103728-2

 

Result ID Test Result Name Result LOINC Value
617585 Test Description 62364-5
617586 Specimen 31208-2
617587 Source 31208-2
617588 Result Summary 50397-9
617589 Result 82939-0
617590 Interpretation 69047-9
618181 Additional Results In Process
617591 Resources 99622-3
617592 Additional Information 48767-8
617593 Method 85069-3
617594 Genes Analyzed 48018-6
617595 Disclaimer 62364-5
617596 Released By 18771-6