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Order Code MUPAN Comprehensive Neuromuscular 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.



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.

 

Submit only 1 of the following specimens:

 

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: None

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) 4 days/Refrigerated 4 days/Frozen 4 days

Additional Information:

1. Specimens are preferred to be received within 4 days of collection. Extraction will be attempted for specimens received after 4 days, and DNA yield will be evaluated to determine if testing may proceed.

2. To ensure minimum volume and concentration of DNA is met, the requested volume must be submitted. Testing may be canceled if DNA requirements are inadequate.

 

Specimen Type: Saliva

Patient Preparation: Patient should not eat, drink, smoke, or chew gum 30 minutes prior to collection.

Supplies: Saliva Swab Collection Kit (T786)

Specimen Volume: 1 Swab

Collection Instructions: Collect and send specimen per kit instructions.

Specimen Stability Information: Ambient (preferred) 30 days/Refrigerated 30 days

Additional information: Saliva specimens are acceptable but not recommended. Due to lower quantity/quality of DNA yielded from saliva, some aspects of the test may not perform as well as DNA extracted from a whole blood sample. When applicable, specific gene regions that were unable to be interrogated will be noted in the report. Alternatively, additional specimen may be required to complete testing.

 

Specimen Type: Extracted DNA

Container/Tube:

Preferred: Screw Cap Micro Tube, 2 mL with skirted conical base

Acceptable: Matrix tube, 1 mL

Collection Instructions:

1. The preferred volume is at least 100 mcL at a concentration of 75 ng/mcL.

2. Include concentration and volume on tube.

Specimen Stability Information: Frozen (preferred) 1 year/Ambient/Refrigerated

Additional Information: DNA must be extracted in a CLIA-certified laboratory or equivalent and must be extracted from a specimen type listed as acceptable for this test (including applicable anticoagulants). Our laboratory has experience with Chemagic, Puregene, Autopure, MagnaPure, and EZ1 extraction platforms and cannot guarantee that all extraction methods are compatible with this test. If testing fails, one repeat will be attempted, and if unsuccessful, the test will be reported as failed and a charge will be applied. If applicable, specific gene regions that were unable to be interrogated due to DNA quality will be noted in the report.


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 a neuromuscular disorder

 

Identifying variants within genes known to be associated with neuromuscular disorders 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 215 genes associated with neuromuscular disorders: ABHD5, ACAD9, ACADM, ACADS, ACADVL, ACTA1, ADSS1, AGK, AGL, AGRN, ALDOA, ALG14, ALG2, ANO5, ASAH1, ASCC1, ATP1A2, ATP2A1, B3GALNT2, B4GAT1, BAG3, BIN1, BVES, CACNA1S, CAPN3, CASQ1, CAV3, CAVIN1, CFL2, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CLCN1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, COQ2, COQ4, COQ6, COQ8A, COQ9, CPT2, CRPPA, CRYAB, CTDP1, DAG1, DES, DGUOK, DMD, DNA2, DNAJB6, DNM2, DOK7, DPAGT1, DPM1, DPM2, DPM3, DYSF, EMD, ENO3, ETFA, ETFB, ETFDH, FAM111B, FBXL4, FDX2, FHL1, FKBP14, FKRP, FKTN, FLAD1, FLNC, GAA, GBE1, GFER, GFPT1, GMPPB, GNE, GOSR2, GYG1, GYS1, HADHA, HADHB, HNRNPA1, HNRNPA2B1, HNRNPDL, HRAS, INPP5K, ISCU, ITGA7, JAG2, KBTBD13, KCNJ2, KLHL40, KLHL41, KY, LAMA2, LAMB2, LAMP2, LARGE1, LDB3, LDHA, LMNA, LMOD3, LPIN1, LRP4, MAP3K20, MATR3, MB, MEGF10, MGME1, MICU1, MRPS25, MSTO1, MTM1, MTO1, MUSK, MYBPC1, MYH2, MYH7, MYMK, MYOT, MYPN, NEB, OPA1, ORAI1, PAX7, PDSS1, PDSS2, PFKM, PGAM2, PGK1, PGM1, PHKA1, PLEC, PNPLA2, PNPLA8, POGLUT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PREPL, PRKAG2, PUS1, PYGM, PYROXD1, RAPSN, RBCK1, RNASEH1, RRM2B, RXYLT1, RYR1, SCN4A, SDHA, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SLC18A3, SLC22A5, SLC25A1, SLC25A20, SLC25A3, SLC25A4, SLC25A42, SLC5A7, SPEG, SQSTM1, STAC3, STIM1, SUCLA2, SUCLG1, SUN1, SUN2, SYNE1, SYT2, TANGO2, TAZ (TAFAZZIN), TBCD, TCAP, TFG, TIA1, TK2, TMEM43, TMEM65, TNNT1, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRIP4, TSFM, TTC19, TTN, TWNK, UBA1, VAMP1, VCP, VMA21, YARS2. SMN1 exon 7 and SMN2 exon 7 copy number are determined by droplet digital polymerase chain reaction. See Targeted Genes and Methodology Details for Comprehensive Neuromuscular Gene Panel and Method Description for additional details.

 

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

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

Neuromuscular Gene Panel

Specimen Type

Varies

Specimen Minimum Volume

See Specimen Required

Specimen Stability Information

Specimen Type Temperature Time
Varies Varies

Reject Due To

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

Reference Values

An interpretive report will be provided.

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 Neuromuscular Gene Panel for details regarding the targeted genes analyzed for each test and specific gene regions not routinely covered.(Unpublished Mayo method)

 

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.

 

Genes analyzed:

ABHD5, ACAD9, ACADM, ACADS, ACADVL, ACTA1, ADSS1, AGK, AGL, AGRN, ALDOA, ALG14, ALG2, ANO5, ASAH1, ASCC1, ATP1A2, ATP2A1, B3GALNT2, B4GAT1, BAG3, BIN1, BVES, CACNA1S, CAPN3, CASQ1, CAV3, CAVIN1, CFL2, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CLCN1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, COQ2, COQ4, COQ6, COQ8A, COQ9, CPT2, CRPPA, CRYAB, CTDP1, DAG1, DES, DGUOK, DMD, DNA2, DNAJB6, DNM2, DOK7, DPAGT1, DPM1, DPM2, DPM3, DYSF, EMD, ENO3, ETFA, ETFB, ETFDH, FAM111B, FBXL4, FDX2, FHL1, FKBP14, FKRP, FKTN, FLAD1, FLNC, GAA, GBE1, GFER, GFPT1, GMPPB, GNE, GOSR2, GYG1, GYS1, HADHA, HADHB, HNRNPA1, HNRNPA2B1, HNRNPDL, HRAS, INPP5K, ISCU, ITGA7, JAG2, KBTBD13, KCNJ2, KLHL40, KLHL41, KY, LAMA2, LAMB2, LAMP2, LARGE1, LDB3, LDHA, LMNA, LMOD3, LPIN1, LRP4, MAP3K20, MATR3, MB, MEGF10, MGME1, MICU1, MRPS25, MSTO1, MTM1, MTO1, MUSK, MYBPC1, MYH2, MYH7, MYMK, MYOT, MYPN, NEB, OPA1, ORAI1, PAX7, PDSS1, PDSS2, PFKM, PGAM2, PGK1, PGM1, PHKA1, PLEC, PNPLA2, PNPLA8, POGLUT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PREPL, PRKAG2, PUS1, PYGM, PYROXD1, RAPSN, RBCK1, RNASEH1, RRM2B, RXYLT1, RYR1, SCN4A, SDHA, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SLC18A3, SLC22A5, SLC25A1, SLC25A20, SLC25A3, SLC25A4, SLC25A42, SLC5A7, SPEG, SQSTM1, STAC3, STIM1, SUCLA2, SUCLG1, SUN1, SUN2, SYNE1, SYT2, TANGO2, TAZ (TAFAZZIN), TBCD, TCAP, TFG, TIA1, TK2, TMEM43, TMEM65, TNNT1, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRIP4, TSFM, TTC19, TTN, TWNK, UBA1, VAMP1, VCP, VMA21, and YARS2

Day(s) Performed

Varies

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

81443

Testing Algorithm

For information see Neuromuscular Myopathy Testing Algorithm.