- Neuromuscular disorders affect the nerves that control voluntary muscles such as those in the arms and legs. When neurons connected to these muscles become unhealthy and die the communication between the nervous system and muscles breaks down leading to a weakening of the muscles and their eventual degradation. This can lead to twitching, cramps, aches and pains, and joint and movement problems. In serious cases it can also affect the heart function and the ability to breathe. Many neuromuscular diseases are genetic and run in families. They generally have no cure and the goal of treatments is to improve symptoms, increase mobility, and lengthen life (1). Genetic testing is recommended in order to enhance the understanding of symptoms (for example, to confirm a diagnosis of a muscular dystrophy), or to predict the occurrence of a genetic disorder in which symptoms have not yet appeared (2).
- Genes (111): ACTA1, AGRN, ALG14, ALG2, AMPD1, AMPD3, ANO5, BAG3, BIN1, BSCL2, CAPN3, CAV3, CCDC78, CFL2, CHAT, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CNTN1, COL6A1, COL6A2, COL6A3, COLQ, CRYAB, DAG1, DES, DMD, DNAJB6, DNM2, DOK7, DPAGT1, DPM2, DPM3, DYSF, EMD, FHL1, FKRP, FKTN, FLNC, GAA, GFPT1, GLE1, GMPPB, GNE, HNRNPDL, IGHMBP2, ISPD, ITGA7, KBTBD13, LAMA2, LARGE, LDB3, LMNA, LRP4, MTM1, MTMR14, MUSK, MYF6, MYH2, MYH7, MYOT, NEB, PABPN1, PEX1, PEX12, PEX14, PEX2, PEX26, PEX3, PEX5, PEX6, PLEC, PLEKHG5, PMM2, POMGNT1, POMK, POMT1, POMT2, PREPL, PTRF, PYGM, RAPSN, RYR1, RYR2, SCN4A, SEPN1, SGCA, SGCB, SGCD, SGCE, SGCG, SIL1, SYNE1, SYNE2, SYT2, TCAP, TMEM43, TMEM5, TNNI2, TNNT1, TNPO3, TPM2, TPM3, TRAPPC11, TRIM32, TTN, VCP, and VRK1
Test Code: 5015
• Molecular confirmation of a clinical diagnosis in symptomatic patients.
• Assessment for at-risk family members
Test Info Sheet: Neuromuscular Panel
Requisition: Contact ApolloGen Diagnostic Laboratory
- Turn-Around Time: 4 Weeks
Preferred Specimen: 3-5 mL Whole Blood – Lavender Top Tube
Other Specimens: See details here
- CPT Codes: 81404×3, 81405×11, 81406×15, 81407×3, 81408×6, 81479×73
Pricing: Please contact us at (949) 916-8886 or firstname.lastname@example.org
- Methodology: Next-Generation Sequencing (NGS)
Muscular Dystrophies Panel