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Test Code IMNP Inherited Motor Neuropathy Gene Panel, Varies


Ordering Guidance


Targeted testing for familial variants (also called site-specific or known mutations 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.

Secondary ID

617571

Useful For

Establishing a molecular diagnosis for patients with distal hereditary motor neuropathy (dHMN)

 

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

Method Name

Sequence Capture and Next-Generation Sequencing (NGS), Polymerase Chain Reaction (PCR), Sanger Sequencing, and Dosage Analysis by Droplet Digital Polymerase Chain Reaction (ddPCR)

Reporting Name

Motor Neuropathy Gene Panel

Specimen Type

Varies

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Clinical Information

Distal hereditary motor neuropathies (dHMN) are one of the major categories of peripheral inherited neuropathies and are characterized by length-dependent lower motor neuron dysfunction. The clinical phenotype is variable but includes progressive weakness and atrophy of the distal muscles, foot deformities, and decreased reflexes. While there is significant phenotypic overlap with hereditary motor and sensory neuropathy/Charcot-Marie-Tooth disease, sensory loss is usually mild or absent in dHMN. Most individuals develop symptoms in childhood or adolescence.

Reference Values

An interpretive report will be provided.

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.

Method Description

Next-generation sequencing (NGS) and/or Sanger sequencing are performed to test for the presence of variants in coding regions and intron/exon boundaries of the genes analyzed as well as some other regions that have known disease-causing variants. The human genome reference GRCh37/hg19 build was used for sequence read alignment. At least 99% of the bases are covered at a read depth over 30X. Sensitivity is estimated at above 99% for single nucleotide variants, above 94% for deletion-insertions (delins)less than 40 base pairs (bp), above 95% for deletions up to 75 bp and insertions up to 47 bp. NGS and/or a polymerase chain reaction (PCR)-based quantitative method is performed to test for the presence of deletions and duplications in the genes analyzed.

 

There may be regions of genes that cannot be effectively evaluated by sequencing or deletion and duplication analysis as a result of technical limitations of the assay, including regions of homology, high guanine-cytosine (GC) content, and repetitive sequences. See Targeted Genes and Methodology Details for the Inherited Motor Neuropathy Gene Panel for details regarding the targeted genes analyzed for each test and specific gene regions not routinely covered.

 

Confirmation of select reportable variants may be performed by alternate methodologies based on internal laboratory criteria.

 

Droplet digital PCR is performed for detection and quantification of SMN1 exon 7 and SMN2 exon 7 associated with spinal muscular atrophy.(Unpublished Mayo method)

 

Genes analyzed: ATP7A, BICD2, BSCL2, CPOX, DCTN1, DNAJB2, FBXO38, GARS1, GBF1, HINT1, HSPB1, HSPB8, IGHMBP2, PLEKHG5, SETX, SIGMAR1, SLC5A7, SOD1, SORD, SPTAN1, TRPV4, VRK1, VWA1, and WARS1

Day(s) Performed

Varies

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

81404 x 2

81405

81406 x 2

81479

81479 (if appropriate for government payers)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
IMNP Motor Neuropathy Gene Panel 103727-4

 

Result ID Test Result Name Result LOINC Value
617572 Test Description 62364-5
617573 Specimen 31208-2
617574 Source 31208-2
617575 Result Summary 50397-9
617576 Result 82939-0
617577 Interpretation 69047-9
618180 Additional Results 82939-0
617578 Resources 99622-3
617579 Additional Information 48767-8
617580 Method 85069-3
617581 Genes Analyzed 48018-6
617582 Disclaimer 62364-5
617583 Released By 18771-6

Testing Algorithm

For more information see Hereditary Peripheral Neuropathy Diagnostic Algorithm