Genomic Unity® Neuromuscular Disorders Analysis
NR007
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:
- Muscular dystrophies, including:
- --- Becker muscular dystrophy
- --- Duchenne muscular dystrophy
- Myotonic dystrophy type I (DM1)
- Myotonic dystrophy type II (DM2)
- Congenital myopathies
- Congenital myasthenic syndromes
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:
Due to the variable nature of repetitive sequence and sequence specific differences in detection, repeat evaluation and orthogonal confirmation is performed on a case-by-case basis. Reportable pathogenic or intermediate repeat expansions may be reported with or without repeat count.
- 81443, 81161, 81187, 81239, 81404 x5, 81405 x2, 81406 x2, 81407, 81408 x2, 81479 x3
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