Background:
Neuromuscular disorders are a group of heterogeneous conditions affecting the nervous system that controls muscle movements. This neuronal damage in turn causes degradation of the affected muscular tissue causing weakness and loss of muscle tone. This comprehensive test includes muscular dystrophies, congenital muscular dystrophy, nemaline myopathy, Emery-Dreifuss muscular dystrophy, and Limb-Girdle muscular dystrophy, and syndromic conditions where the phenotype includes neuromuscular disorders. Clinical presentation can be variable but include cardiomyopathies, muscle weakness and abnormalities in serum creatine kinase, electromyography, positive muscle biopsies and nerve conduction studies. The inheritance patterns for neuromuscular disorders can follow autosomal dominant, recessive and X-linked. This test combines both next-generation sequencing and exon level deletion-duplication analysis for these 79 genes.
Reasons for Referral:
- Abnormal serum creatine kinase levels
- Abnormal electromyography (EMG)
- Abnormal nerve conduction studies (NCS)
- Positive family history (targeted testing is available if familial mutation is known).
- Carrier testing.
Methodology:
For detailed information and ordering instructions, please refer to Full Gene Analysis (1240). Genes may be added or removed from the list below if clinically indicated. Exon-centric deletion/duplication analysis (1340) is also available if indicated.
Comprehensive Neuromuscular panel genes:
ACTA1, AMPD1, ANO5, BAG3, BIN1, BSCL2, CAPN3, CAV3, CFL2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COL6A1, COL6A2, COL6A3, COLQ, CRYAB, DAG1, DES, DMD, DNM2, DOK7, DYSF, EMD, FHL1, FKRP, FKTN, FLNC, GAA, GLE1, GNE, IGHMBP2, ISPD, ITGA7, LAMA2, LARGE, LDB3, LMNA, MTM1, MTMR14, MUSK, MYH2, MYH7, MYOT, NEB, PABPN1, PLEC, PLEKHG5, PMM2, POMGNT1, POMT1, POMT2, PTRF, PYGM, RAPSN, RYR1, RYR2, SCN4A, SEPN1, SGCA, SGCB, SGCD, SGCE, SGCG, SIL1, SYNE1, SYNE2, TCAP, TNNI2, TNNT1, TPM2, TPM3, TRIM32, TTN, VCP, VRK1
Specimen Requirements:
Test Performed (Days):
Turn Around Time:
Shipment Sensitivity Requirements:
References:
- Journal of Muscular Diseases 2015(2):73-85
Additional Info: