Neuromuscular Disorders Panel NMD Panel

Synonyms

Allscripts (AEHR) Order Name

Neuromuscular Disorders Panel

Sunrise Clinical Manager (SCM) Order Name

Not Orderable

EPIC Order Name

Neuromuscular Disorders Panel

Clinical Info

Molecular confirmation of a clinical diagnosis
Identification of at-risk family members
Assist with treatment/ management decisions
Recurrence risk assessment

Specimen Type

Blood

Container

Lavender Top Tube

Collection Instructions

Container/Tube:  Lavender top tube
Specimen: 2 - 5 mL whole blood
Transport Temperature: Room Temperature

Transport Instructions

Room Temperature

Specimen Stability

Methodology

Next-Gen Sequencing
Deletion/Duplication Analysis

Days Performed

TAT: 4 Weeks

Performing Laboratory

GeneDx

CPT

81404 x 5
81405 x 2
81406 x 2
81407
81408 x 2
81161
81336
81239

PDM

1659854

Result Interpretation

See Report
 
Includes Genes:
 ACTA1, ANO5, ASAH1, ATP2A1, B3GALNT2, BAG3, BICD2, BIN1, BVES, CACNA1S, CAPN3, CAV3, CCDC78, CFL2, CHKB, CLCN1, CNTN1, COL12A1, COL6A1, COL6A2, COL6A3, CRYAB, DAG1, DES, DMD, DNAJB2, DNAJB6, DNM2, DOK7, DPM1, DPM2, DPM3, DYNC1H1, DYSF, EGR2, EMD, FHL1, FKRP, FKTN, FLNC, GAA, GBE1, GMPPB, GNE, GYS1, HNRNPA2B1, IGHMBP2, ISPD, ITGA7, KBTBD13, KLHL40, KLHL41, KY, LAMA2, LAMP2, LARGE, LDB3, LMNA, LMOD3, MEGF10, MICU1, MTM1, MYH2, MYH7, MYOT, MYPN, NEB, PABPN1, PHKA1, PLEC, PLEKHG5, PNPLA2, POGLUT1, POMGNT1, POMK, POMT1, POMT2, PYGM, PYROXD1, RYR1, SCN4A, SEPN1, SGCA, SGCB, SGCD, SGCG, SIL1, SLC52A2, SLC52A3, SMCHD1, SMN1, SMN2, SQSTM1, STAC3, STIM1, SYNE1, TAZ, TCAP, TIA1, TK2, TMEM5, TNNI2, TNNT1, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRIP4, TRPV4, TTN, UBA1, VCP, VRK1

Forms


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