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Test Code PEPAN Comprehensive Peripheral 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

617688

Useful For

Establishing a molecular diagnosis for patients with peripheral neuropathy

 

Identifying variants within genes known to be associated with peripheral neuropathy, 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

Peripheral 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

Inherited peripheral neuropathies are common neurologic disorders that represent a spectrum of diseases with different etiologies. Based on the pattern of inheritance and nerve conduction studies, there are 3 major categories of inherited peripheral neuropathies with isolated nerve involvement. The first group is hereditary motor and sensory neuropathy, also referred to as Charcot-Marie-Tooth (CMT) disease. Individuals with CMT typically present with slowly progressive muscle weakness and atrophy, primarily affecting the distal extremities. The second group is hereditary sensory and autonomic neuropathy (HSAN) or hereditary sensory neuropathy if autonomic dysfunction is absent. They predominantly feature slowly progressive loss of multimodal sensation and autonomic dysfunction, with the most common features of HSANs being the loss of sensation of pain and temperature. The third group is distal hereditary motor neuropathy, which is 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. Inherited peripheral neuropathies may also show involvement of the central nervous system (brain or spinal cord), as seen in hereditary spastic paraplegia with neuropathy, or they may be part of a systemic syndromic or metabolic disorder.

 

The inherited peripheral neuropathies are a relatively common and heterogeneous group of disorders. 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. Therefore, multigene panels can be an efficient and cost-effective way to establish a molecular diagnosis for individuals with peripheral neuropathy.

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 Comprehensive Peripheral 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.(Unpublished Mayo method)

 

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

 

Genes analyzed:

AAAS, AARS1, ABCA1, ABCD1, AIFM1, ALDH18A1, AMACR, AP5Z1, APOA1, APTX, ARSA, ATL1, ATL3, ATM, ATP1A1, ATP7A, B4GALNT1, BAG3, BICD2, BSCL2, C12orf65 (MTRFR), C1orf194, CHCHD10, CLCF1, CLTCL1, CNTNAP1, COQ4, COQ7, COX10, COX20, COX6A1, CPOX, CRLF1, CTDP1, CYP27A1, CYP2U1, CYP7B1, DCTN1, DDHD1, DGAT2, DHH, DNAJB2, DNM2, DNMT1, DST, DYNC1H1, EGR2, ELP1, ERCC8, FA2H, FAM126A, FBLN5, FBXO38, FGD4, FGF14, FIG4, FLVCR1, FMR1, FXN, GALC, GAN, GARS1, GBA2, GBE1, GBF1, GDAP1, GJB1, GLA, GM2A, GNB4, GSN, HADHA, HADHB, HARS1, HEXA, HEXB, HINT1, HK1, HMBS, HSPB1, HSPB8, HSPD1, IARS2, IBA57, IGHMBP2, INF2, KARS1, KIF1A, KIF5A, LAMA2, LITAF, LMNA, LRSAM1, MARS1, MCM3AP, MFN2, MME, MORC2, MPC1, MPV17, MPZ, MTMR2, MTTP, MYH14, NAGLU, NDRG1, NEFH, NEFL, NF2, NGF, NIPA1, NTRK1, OPA1, PDK3, PDYN, PEX7, PHYH, PLA2G6, PLEKHG5, PLP1, PMP2, PMP22, PNKP, PNPLA6, POLG, PPOX, PRDM12, PRKCG, PRNP, PRPS1, PRX, PTRH2, RAB7A, REEP1, RETREG1, RNASEH1, RRM2B, RTN2, SACS, SBF1, SBF2, SCN10A, SCN11A, SCN9A, SCO2, SEPTIN9, SETX, SH3TC2, SIGMAR1, SLC12A6, SLC25A19, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SNAP29, SOD1, SORD, SOX10, SPAST, SPG11, SPG21, SPG7, SPTAN1, SPTLC1, SPTLC2, SUCLA2, SURF1, TDP1, TFG, TRIM2, TRPV4, TSFM, TTPA, TTR, TUBB3, TWNK, TYMP, UBA1, VPS13D, VRK1, VWA1, WARS1, WASHC5, WNK1, YARS1, and ZFYVE26

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

81448

LOINC Code Information

Test ID Test Order Name Order LOINC Value
PEPAN Peripheral Neuropathy Gene Panel 103954-4

 

Result ID Test Result Name Result LOINC Value
617689 Test Description 62364-5
617690 Specimen 31208-2
617691 Source 31208-2
617692 Result Summary 50397-9
617693 Result 82939-0
617694 Interpretation 69047-9
618189 Additional Results 82939-0
617695 Resources 99622-3
617696 Additional Information 48767-8
617697 Method 85069-3
617698 Genes Analyzed 48018-6
617699 Disclaimer 62364-5
617700 Released By 18771-6