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 test for the genetic cause of muscle weakness in patients with clinical symptoms consistent with the following inherited neuromuscular disorders:
Muscular dystrophies
Congenital myopathies
Congenital myasthenic syndromes
Order this test when the patient presents with clinical symptoms consistent with a muscular dystrophy, congenital myopathy or congenital myasthenic syndrome and you'd like the option to reflex up to Genomic Unity® Exome Plus Analysis.
Sequencing analysis of neuromuscular disorder associated genes
Del/dup analysis of neuromuscular disorder associated genes
Myotonic dystrophy STR analysis: CNBP, DMPK
Optionally includes:
Reflex to Genomic Unity® Exome Plus 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.
81161x1, 81187x1, 81234x1, 81403x1, 81404x6, 81405x10, 81406x14, 81407x5, 81408x4
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.