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HelpTest 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.
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 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
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
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.
Special Instructions
Reporting Name
Neuromuscular Gene PanelSpecimen Type
VariesSpecimen 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.Reference Values
An interpretive report will be provided.
Day(s) Performed
Varies
Report Available
28 to 42 daysSpecimen Retention Time
Whole Blood: 2 weeks (if available); Extracted DNA: 3 monthsPerforming Laboratory
Mayo Clinic Laboratories in Rochester
CPT Code Information
81443
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| MUPAN | Neuromuscular Gene Panel | 103957-7 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 617663 | Test Description | 62364-5 |
| 617664 | Specimen | 31208-2 |
| 617665 | Source | 31208-2 |
| 617666 | Result Summary | 50397-9 |
| 617667 | Result | 82939-0 |
| 617668 | Interpretation | 69047-9 |
| 618187 | Additional Results | 82939-0 |
| 617669 | Resources | 99622-3 |
| 617670 | Additional Information | 48767-8 |
| 617671 | Method | 85069-3 |
| 617672 | Genes Analyzed | 48018-6 |
| 617673 | Disclaimer | 62364-5 |
| 617674 | Released By | 18771-6 |
Testing Algorithm
For more information see Neuromuscular Myopathy Testing Algorithm