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Test ID: MSNP Metabolic/Syndromic Neuropathy Panel by Next-Generation Sequencing (NGS)

Useful For

Diagnosis of an inherited metabolic or syndromic neuropathy associated with known causal genes

 

Second-tier testing for patients in whom previous targeted gene mutation analyses for specific inherited metabolic or syndromic neuropathy genes where negative

 

Identifying mutations within genes known to be associated with inherited metabolic or syndromic neuropathy, allowing for predictive testing of at-risk family members

Method Name

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

Reporting Name

Metabolic or Syndromic Neuropathies

Specimen Type

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 Mayo Medical Laboratories for instructions for testing patients who have received a bone marrow transplant.

Specimen Type: Whole blood

Container/Tube:

Preferred: 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 specimen in original tube.

Additional Information:

1. 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.

2. Prior Authorization is available for this test. Submit the required form with the specimen.


Specimen Minimum Volume

3 mL

Specimen Stability Information

Specimen Type Temperature Time
Varies Ambient (preferred)
  Frozen 
  Refrigerated 

Clinical Information

Inherited peripheral neuropathies are a relatively common diverse group of disorders with heterogeneous genetic causes. Due to the considerable overlap in the clinical phenotypes of various neuropathies, it is often difficult to distinguish these specific inherited disorders from sporadic, idiopathic, or acquired forms of neuropathy without genetic testing. Additionally, peripheral neuropathy may be part of an inherited systemic syndromic or metabolic disorder caused by genes in metabolic pathways.

 

Given the considerable phenotypic overlap and the broad genetic heterogeneity of inherited peripheral neuropathies, a comprehensive diagnostic genetic test is useful to establish the genetic cause in this group of inherited diseases.

 

See Targeted Genes Interrogated by Metabolic/Syndromic Neuropathy Panel in Special Instructions for details regarding the targeted genes identified by this test.

Reference Values

An interpretive report will be provided.

Interpretation

All detected alterations 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 May;17(5):405-424

2. Grantz M: Unusual peripheral neuropathies. Part III: intrinsic inherited causes. Semin Neurol 2010 Sep;30(4):405-415

3. Klein CJ, Duan X, Shy ME: Inherited neuropathies: Clinical overview and update. Muscle Nerve 2013:48(4):604-622

4. D'Amico A, Bertini E: Metabolic neuropathies and myopathies. Handb Clin Neurol 2013;113:1437-1455

Day(s) and Time(s) Performed

Performed weekly, Varies

Analytic Time

10 weeks

CPT Code Information

81404-TTR

81405 x 4-ABCD1, HRSA, GLA and TYMP

81406 x 2-GALC and HMBS

81407-L1CAM

81408-ATM

81479-CTDP1, CYPO27A1, FBLN5, GAN, GBE1, GJB3, PHYH, PRPS1, TUBB3 and XCP

LOINC Code Information

Test ID Test Order Name Order LOINC Value
MSNP Metabolic or Syndromic Neuropathies In Process

 

Result ID Test Result Name Result LOINC Value
38230 Result Summary 50397-9
38231 Result No LOINC Needed
38232 Interpretation 69047-9
38233 Additional Information 48767-8
38234 Specimen 31208-2
38235 Source 31208-2
38236 Released By No LOINC Needed

Test Classification

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

Testing Algorithm

See Hereditary Peripheral Neuropathies Testing Algorithm in Special Instructions

Forms

1. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.

2. Molecular Genetics: Neurology Patient Information in Special Instructions

3. Metabolic/Syndromic Neuropathy Panel by Next-Generation Sequencing (NGS) Prior Authorization Ordering Instructions

4. If not ordering electronically, complete, print, and send a Neurology Specialty Testing Client Test Request (T732) with the specimen (http://www.mayomedicallaboratories.com/it-mmfiles/neurology-request-form.pdf

Mayo Medical Laboratories | Genetics and Pharmacogenomics Catalog Additional Information:

mml-inherited-molecular