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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