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 Variant, 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. For instructions for testing patients who have received a bone marrow transplant, call 800-533-1710.

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

Additional Information: To ensure minimum volume and concentration of DNA is met, the preferred volume of blood must be submitted. Testing may be canceled if DNA requirements are inadequate.


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

Genetics Test Information

This test utilizes-next generation sequencing to detect single nucleotide and copy number variants in 87 genes associated with hereditary motor and sensory neuropathy: AARS1, ABCD1, AIFM1, ARSA, ATP1A1, ATP7A, BAG3, BSCL2, C1orf194, CHCHD10, CNTNAP1, COX10, COX6A1, CTDP1, DGAT2, DHH, DNM2, DYNC1H1, EGR2, ERCC8, FAM126A, FBLN5, FGD4, FIG4, FMR1, GALC, GAN, GARS1, GBF1, GDAP1, GJB1, GLA, GNB4, HARS1, HINT1, HK1, HSPB1, HSPB8, IGHMBP2, INF2, KARS1, LAMA2, LITAF, LMNA, LRSAM1, MARS1, MCM3AP, MFN2, MORC2, MPV17, MPZ, MTMR2, NDRG1, NEFH, NEFL, PEX7, PHYH, PLEKHG5, PLP1, PMP2, PMP22, PNKP, POLG, PRPS1, PRX, RAB7A, SACS, SBF1, SBF2, SCO2, SH3TC2, SLC12A6, SLC25A46, SORD, SOX10, SURF1, TDP1, TFG, TRIM2, TRPV4, TSFM, TTR, TUBB3, TWNK, TYMP, VPS13D, and YARS1. For more information see Method Description and Targeted Genes and Methodology Details for Inherited Motor and Sensory Neuropathy Gene Panel.

 

Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for hereditary motor and sensory neuropathy.

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 Special Container
Varies Varies

Clinical Information

Hereditary motor and sensory neuropathy, or Charcot-Marie-Tooth (CMT) disease, is a major category of inherited peripheral neuropathies and is the most commonly inherited neuromuscular disorder. Individuals with CMT typically present with slowly progressive muscle weakness and atrophy primarily affecting the distal extremities.

 

Traditionally, the classification of CMT was based on nerve conduction velocity (NCV) and inheritance. The three neuropathy types based on NCV include demyelinating, axonal (non-demyelinating), and dominant intermediate CMT. Demyelinating CMT has a NCV less than 35 m/s and involves slowly progressive muscle weakness and atrophy and sensory loss. Often it can include pes cavus foot deformity and bilateral foot drop. Axonal CMT has a NCV greater than 45 m/s and includes distal muscle weakness and atrophy. Individuals tend to be less disabled and have less sensory loss than those with demyelinating neuropathy. Dominant-intermediate CMT has a NCV of 35 to 45 m/s and is consistent with a typical CMT phenotype.

 

Individuals with demyelinating polyneuropathy and an autosomal dominant family history of similar features can consider ordering testing for large deletions and duplications in the PMP22 gene (PMPDD / PMP22 Gene, Large Deletion/Duplication Analysis, Varies) as a first-tier test. Duplications in the PMP22 gene account for as much as 50% of all CMT.

Interpretation

All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(1) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Clinical Reference

1. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424

2. Klein CJ. Charcot-Marie-Tooth disease and other hereditary neuropathies. Continuum (Minneap Minn). 2020;26(5):1224-1256

Day(s) Performed

Varies

Report Available

21 to 28 days

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 82939-0
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

Testing Algorithm

For more information see Hereditary Peripheral Neuropathy Diagnostic Algorithm

Mayo Clinic Laboratories | Genetics and Genomics Additional Information:

mcl-moltechtestmenu; mcl-neurology