Genomic Unity® Neuromuscular Disorders Analysis

NR007

Genomic Unity® Neuromuscular Disorders Analysis is a diagnostic test designed to identify genetic variants that cause neuromuscular disorders.

Test Description

Genomic Unity® Neuromuscular Disorders Analysis is a targeted test that uses a whole genome platform to detect all major clinically relevant variant types from a single sample. This targeted test focuses on 133 genes associated with neuromuscular disorders.

Genomic Unity® Neuromuscular Disorders Analysis provides a single, unified clinical report that replaces a battery of tests including: targeted gene panel, single gene analysis and multiplex ligation dependent probe amplification (MLPA), as well as PCR and southern blot tests for short tandem repeat expansions.

When to Order

Order this test when clinical symptoms are consistent with muscular dystrophies, congenital myopathies and congenital myasthenic syndromes.

Included Genes

ACTA1, AGRN, ALG2, ALG14, ANO5, ATP2A1, B3GALNT2, B4GAT1, BAG3, BIN1, CACNA1S, CAPN3, CAV3, CCDC78, CFL2, CHAT, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CLCN1, CNBP, CNTN1, COL6A1, COL6A2, COL6A3, COL12A1, COLQ, CPT2, CRPPA, CRYAB, DAG1, DES, DMD, DMPK, DNAJB6, DNM2, DOK7, DPAGT1, DPM1, DPM2, DPM3, DYSF, EMD, FHL1, FKBP14, FKRP, FKTN, FLNC, GAA, GFPT1, GIPC1, GMPPB, GNE, GYS1, HINT1, HNRNPA2B1, HNRNPDL, HSPG2, ITGA7, KBTBD13, KCNJ2, KLHL9, KLHL40, KLHL41, LAMA2, LAMB2, LAMP2, LARGE1, LDB3, LIMS2, LMNA, LMOD3, LRP4, LRP12, MATR3, MEGF10, MTM1, MTMR14, MUSK, MYF6, MYH2, MYH7, MYO9A, MYOT, MYPN, NEB, PLEC, PNPLA2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PREPL, RAPSN, RFC1, RXYLT1, RYR1, SCN4A, SELENON, SGCA, SGCB, SGCD, SGCG, SLC5A7, SMCHD1, SNAP25, STAC3, STIM1, SUN1, SUN2, SYNE1, SYNE2, TCAP, TIA1, TK2, TMEM43, TNNT1, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TTN, VCP, VMA21, VPS13C , VWA1, ZFHX3

Included Analyses

  • Sequence analysis of neuromuscular disorder-associated genes including: single nucleotide variants, deletions, insertions, and characterized intronic variants.
  • Copy number variant analysis of neuromuscular disorder-associated genes including: duplications/deletions, mobile element insertions, and inversions.
  • Short tandem repeat (STR) analysis of the CNBP, DMPK, GIPC1, LRP12, RFC1, VWA1, and ZFHX3 genes. (Learn more).

Optionally includes:

Turnaround Time

A report will be issued within 4 weeks from receipt of required samples.

Sample Types

CPT Codes

81173, 81250, 81401, 81403, 81404, 81405, 81406, 81407, 81408, 81443, 81479

The CPT codes provided are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Methods and Limitations

Genomic Unity® Neuromuscular Disorders Analysis uses a PCR-free whole genome sequencing (WGS) platform paired with our Genomic Intelligence® analytical software.

SNVs:
99.9% sensitivity
99.9% specificity
99.8% positive predictive value

Structural variants:
96% clinical sensitivity

Short tandem repeats:
The false negative rate for repeat expansions has not been determined.

Test limitations:
The NEB gene is not fully covered by this test, therefore not all pathogenic variants may be detected. The NEB and TTN genes contain regions that are non-unique, therefore not all variants can be assigned to the correct location, limiting interpretation.