Muscular Dystrophy Panel (47 Genes)

TEST CODE MGT0020
TEST NAME Muscular Dystrophy Panel (47 Genes)
RELATED GENE ANO5, CAPN3, CAV3, CLCN1, COL6A1, COL6A2, COL6A3, DAG1, DES, DMD, DNAJB6, DYSF, EMD, FHL1, FKRP, FKTN1, FLNC, GAA, GMPPB, GNE, HNRNPDL, ISPD, LAMA2, LIMS2, LMNA, MYOT, PLEC, POMGNT1, POMGNT2, POMK, POMT1, POMT2, SEPN1, SGCA, SGCB, SGCD, SGCE, SGCG, SMCHD1, SYNE1, SYNE2, TCAP, TNPO3, TRAPPC11, TRIM32, TTN, VCP
SYNONYMOUS ANO5, CAPN3, CAV3, CLCN1, COL6A1, COL6A2, COL6A3, DAG1, DES, DMD, DNAJB6, DYSF, EMD, FHL1, FKRP, FKTN1, FLNC, GAA, GMPPB, GNE, HNRNPDL, ISPD, LAMA2, LIMS2, LMNA, MYOT, PLEC, POMGNT1, POMGNT2, POMK, POMT1, POMT2, SEPN1, SGCA, SGCB, SGCD, SGCE, SGCG, SMCHD1, SYNE1, SYNE2, TCAP, TNPO3, TRAPPC11, TRIM32, TTN, VCP
OMIM
HEREDITY
CLINICAL AREA Muscular dystrophies are a group of disorders that progress with increasing muscle mass loss and weakness. Within the scope of the panel, 47 genes associated with dystrophies are examined.
METHOD Next Generation Sequencing (NGS)
SAMPLE TYPE Blood with EDTA
QUANTITY 3 mL
TAT 40 DAYS

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