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Description
Congenital muscular dystrophies (CMD) are a group of rare genetic diseases that are very different from each other, both from the point of view of their severity and clinical evolution and from the point of view of the biochemical mechanisms that cause them. Children diagnosed with CMD have in common the onset of muscle weakness at birth or in the first months of life (hence the term “congenital”), the presence of early muscle tendon retractions and a dystrophic picture on muscle biopsy.
Additional information
Samples | EDTA, LA, TB, VC |
---|---|
Method of testing | NGS |
Turnaround Time (TAT) | 30-40 days |
Number of Genes | 106 |
Genes / Chromosomes / SNPs | ACTA1, ACTN2, AGRN, ALG2, ANO5, ASCC1, B3GNT1, BAG3, BIN1, CACNA1S, CAPN3, CASQ2, CAV3, CFL2, CHAT, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CLCN1, CNTN1, COL12A1, COL4A1, COL6A1, COL6A2, COL6A3, COLQ, CPT2, CRYAB, DAG1, DES, DMD, DNAJB6, DNM2, DOK7, DPAGT1, DPM1, DPM3, DYSF, EMD, FHL1, FKRP, FKTN, FLNC, GAA, GFPT1, GNE, GOSR2, GTDC2, HSPB8, ISPD, ITGA7, KBTBD13, KLHL9, LAMA2, LAMB2, LAMP2, LARGE, LDB3, LMNA, LRP4, MATR3, MEGF10, MTM1, MTMR14, MUSK, MYF6, MYH2, MYH7, MYL2, MYO18B, MYOT, MYPN, NEB, ORAI1, PGAM2, PLEC, POMGNT1, POMT1, POMT2, PREPL, PYGM, RAPSN, RYR1, SCN4A, SEPN1, SGCA, SGCB, SGCD, SGCE, SGCG, SLC5A7, SMN1, SYNE1, SYNE2, TCAP, TNNT1, TNNT3, TPM2, TPM3, TRIM32, TTN, VCP, VMA21 |