Genomic Unity® Neuromuscular Disorders Analysis

Neuromuscular disorders encompass a wide spectrum of nerve-related diseases and conditions that affect the body’s muscles. Patients experience progressive muscle weakness and atrophy due to disrupted communication between the nervous system and the muscles it controls. Symptoms may include twitching or uncontrolled movements, cramps, pain, muscle weakness or rigidity as well as difficulty with coordinated movements.

Genomic Unity® Neuromuscular Disorders Analysis is an effective genetic test for the cause of muscle weakness in patients with clinical symptoms consistent with the following inherited neuromuscular disorders:

Order this test when the patient presents with clinical symptoms consistent with a muscular dystrophy, myotonic dystrophy type I or II (DM1 or DM2), congenital myopathy or congenital myasthenic syndrome and you'd like the option to reflex up to Genomic Unity® Whole Genome Analysis.

  • Sequencing analysis of neuromuscular disorder associated genes
  • Del/dup analysis of neuromuscular disorder associated genes
  • CTG repeat expansion analysis of the DMPK gene which causes Myotonic dystrophy type I (DM1)
  • CCTG repeat expansion analysis of the CNBP gene which causes Myotonic dystrophy type II (DM2)

Optionally includes:

  • Reflex to Genomic Unity® Whole Genome Analysis or Genomic Unity® Exome Analysis

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

 

SNVs and Indels up to 50bp
99.8% sensitivity
99.7% positive predictive value

Note that the NEB gene is not fully covered by this test, therefore pathogenic variants may not be detected in this gene.

Structural variants:
96% clinical sensitivity

Short tandem repeats:
Full mutation tandem repeats, and in some cases intermediate and/or premutation repeats, are reported with the number of repeats. All reported tandem repeat expansions are confirmed by an orthogonal technology.

81161, 81187, 81234, 81403, 81404, 81405, 81406, 81407, 81408

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.

Blood - 5ml
Saliva - contact us for a kit
gDNA - 5μg

Turn around time is 6-8 weeks from sample receipt.