Comprehensive Muscular Dystrophy/Myopathy

Message

This test is currently only available in BHS CPRS. If you are a Bedford provider and wish to see this test offered in Bedford CPRS- please contact the Bedford Laboratory.

Test Code

COMPREHENSIVE MD GENES(MNG)

Alias/See Also

MNG#NGS330

Preferred Specimen

4 mL whole blood lavender EDTA

Minimum Volume

2 mL

Instructions

LAB: Use MNG Smart Kit to transport to reference lab

Transport Temperature

Room temperature

Methodology
Next Generation DNA Sequencing

Report Available

8 weeks

Reference Range

Provided with patient report in CPRS.

Clinical Significance

Genes assessed: AARS2 (612035), ACADS (606885), ACADVL (609575), ACTA1 (102610), ADCK3 (606980), AFG3L2 (604581), AGK (610345), AGL (610860), AGRN (103320), AIFM1 (300169), ALDOA (103850), AMPD1 (102770), ANO5 (608662), ATP2A1 (601003), B3GALNT2 (610194), B3GNT1 (605517), BAG3 (603883), BIN1 (601248), C10ORF2 (606075), C12orf65 (613541), CACNA1S (114208), CAPN3 (114240), CAV3 (601253), CCDC78 (614666), CFL2 (601443), CHAT (118490), CHCHD10 (615903), CHKB (612395), CHRNA1 (100690), CHRNB1 (100710), CHRND (100720), CHRNE (100725), CLCN1 (118425), CNBP (116955), CNTN1 (600016), COA5 (613920), COL4A1 (120130), COL6A1 (120220), COL6A2 (120240), COL6A3 (120250), COLQ (603033), COQ2 (609825), COQ6 (614647), COQ9 (612837), COX10 (602125), COX14 (614478), COX6B1 (124089), CPT2 (600650), CRYAB (123590), DES (125660), DMD (300377), DMPK (605377), DNA2 (601810), DNAJB6 (611332), DNM2 (602378), DOK7 (610285), DUX4 (606009), DYSF (603009), EARS2 (612799), EMD (300384), ENO3 (131370), FARS2 (611592), FASTKD2 (612322), FHL1 (300163), FKRP (606596), FKTN (607440), FLNC (102565), FOXRED1 (613622), GAA (606800), GBE1 (607839), GFER (600924), GFM1 (606639), GFPT1 (138292), GMPPB (615320), GNE (603824), GTDC2 (614828), GYG1 (603942), GYS1 (138570), HADHA (600890), HADHB (143450), HCCS (300056), HINT1 (601314), HNRNPA1 (164017), HNRNPA2B1 (600124), HRAS (190020), HSPG2 (142461), ISCU (611911), ISPD (614631), ITGA7 (600536), KBTBD13 (613727), KCNJ18 (613236), KIF21A (608283), LAMA2 (156225), LAMP2 (309060), LARGE (603590), LDB3 (605906), LMNA (150330), LPIN1 (605518), MATR3 (164015), MEGF10 (612453), MGME1 (615076), MPV17 (137960), MRPL3 (607118), MRPS16 (609204), MRPS22 (605810), MTFMT (611766), MTM1 (300415), MTMR14 (611089), MTO1 (614667), MUSK (601296), MYF6 (159991), MYH14 (608568), MYH2 (160740), MYH7 (160760), MYH7B (609928), MYL2 (160781), MYOT (604103), NEB (161650), OPA1 (605290), PABPN1 (602279), PDSS1 (607429), PDSS2 (610564), PFKM (610681), PGAM2 (612931), PGK1 (311800), PHKA1 (311870), PLEC (601282), PNPLA2 (609059), PNPT1 (610316), POLG (174763), POLG2 (604983), POMGNT1 (606822), POMT1 (607423), POMT2 (607439), PRKAG2 (602743), PRKAG3 (604976), PTRF (603198), PUS1 (608109), PYGM (608455), RAPSN (601592), RBCK1 (610924), RMND1 (614917), RRM2B (604712), RYR1 (180901), SARS2 (612804), SCN4A (603967), SCO1 (603644), SCO2 (604272), SDHAF1 (612848), SEPN1 (606210), SEPT9 (604061), SGCA (600119), SGCB (600900), SGCD (601411), SGCG (608896), SGK196 (615247), SIL1 (608005), SLC22A5 (603377), SLC25A4 (103220), SLC37A4 (602671), SLC52A1 (607883), SLC52A2 (607882), SMCHD1 (614982), STIM1 (605921), SUCLG1 (611224), SURF1 (185620), SYNE1 (608441), SYNE2 (608442), TAZ (300394), TCAP (604488), TK2 (188250), TNNT1 (605355), TNPO3 (610032), TPM2 (190990), TPM3 (191030), TRIM32 (602290), TRMU (610230), TSFM (604723), TTN (188840), TUBB3 (602661), TUFM (602389), TYMP (131222), VCP (601023), YARS2 (610957).

Performing Laboratory
MNG Laboratories
5424 Glenridge Drive NE
Atlanta, GA 30342

Additional Information
Link to MNG test catalog

Last Updated: August 12, 2016

The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.