Neuromuscular Disorders

neuromuscular disorders panel, as well as an expanded 78- panel for the following conditions depending on the

EGL offers a 46-gene neuromuscular disorders panel, as well as an expanded 78-gene panel, depending on the specificity of a patient's phenotype. Other phenotype-specific panels are available for limb-girdle muscular dystrophy (34 Neuromuscular Disorders

Genes Included on the Expanded Neuromuscular Disorders Panel* ACTA1 CHRNA1 DAG1 FLNC LMNA PLEKHG5 SCN4A TNNI2 AMPD1 CHRNB1 DES GAA MTM1 PMM2 SEPN1 TNNT1 ANO5 CHRND DMD GLE1 MTMR14 POMGNT1 SGCA TPM2 BAG3 CHRNE DNM2 GNE MUSK POMT1 SGCB TPM3 BIN1 CHRNG DOK7 IGHMBP2 MYH2 POMT2 SGCD TRIM32 BSCL2 COL6A1 DYSF ISPD MYH7 PTRF SGCE TTN CAPN3 COL6A2 EMD ITGA7 MYOT PYGM SGCG VCP CAV3 COL6A3 FHL1 LAMA2 NEB RAPSN SIL1 VRK1 CFL2 COLQ FKRP LARGE PABPN1 RYR1 SYNE1 CHAT CRYAB FKTN LDB3 PLEC RYR2 TCAP

*Bolded are also found on the 46-gene neuromuscular disorders panel. Please note that deletion/duplication analysis is not completed for all genes in the panel. Some genes on this panel are associated with additional phenotypes.

All genes on the next generation sequencing panel may be ordered separately. Genes included on panels are subject to change.

Test Code Test Name CPT®** Code(s) 81400 (x1), 81401 (x1), 81404 (x1), MNEU1 Neuromuscular Disorders: Sequencing Panel 81405 (x1), 81406 (x1), 81407 (x1), 81408 (x1) 81161 (x1), 81404 (x1), 81405 (x1), DNEU1 Neuromuscular Disorders: Deletion/Duplication Panel 81406 (x1), 81408 (x1) MM360 Expanded Neuromuscular Disorders: Sequencing Panel 81405 (x1), 81406 (x1), 81407 (x1) 81161 (x1), 81404 (x1), 81405 (x1), MD360 Expanded Neuromuscular Disorders: Deletion/Duplication Panel 81406 (x1) MCO6P Bethlem Myopathy and Ullrich Congenital Muscular Dystrophy Panel 81407 (x3) MM211 Congenital Muscular Dystrophy: Sequencing Panel 81404 (x1), 81405 (x1), 81406 (x1) MD211 Congenital Muscular Dystrophy: Deletion/Duplication Panel 81228 (x1), 81406 (x1) MM212 Limb-Girdle Muscular Dystrophy: Sequencing Panel 81404 (x1), 81405 (x1), 81406 (x1) MD212 Limb-Girdle Muscular Dystrophy: Deletion/Duplication Panel 81228 (x1), 81404 (x1)

**CPT® is a registered trademark of the American Medical Association.

For more information about EGL and the nearly 1100 tests we offer: EMAIL CALL WEB [email protected] 404-778-8499 www.geneticslab.emory.edu