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NeuroRef Neuromuscular Disorders® 250 genes related to neuromuscular disorders

Test Code

55625

Gene/s
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250 gens

Specific Gene

ABHD5, ACAD9, ACADM, ACADS, ACADVL, ACTA1, ADCY6, ADSSL1, AGK, AGL, AGRN, ALG14, ALG2, AMPD1, ANO5, ASCC1, ATP2A1, B3GALNT2, B4GAT1, BAG3, BCS1L, BIN1, BVES, c12orf65, CACNA1S, CAPN3, CAV3, CAVIN1, CCDC78, CFL2, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CLCN1, CNTN1, COL12A1, COL6A1, COL6A2, COL6A3, COLQ, COQ2, COQ9, COX10, COX15, CPT2, CRPPA, CRYAB, DAG1, DES, DMD, DNAJB6, DNM2, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DYSF, EARS2, ECEL1, ECHS1, EMD, ENO3, ETFA, ETFB, ETFDH, ETHE1, FARS2, FBN1, FBN2, FBXL4, FHL1, FKRP, FKTN, FLNC, FOXRED1, GAA, GBE1, GFER, GFM1, GFPT1, GLDN, GLE1, GMPPB, GNE, GYG1, GYS1, HADHA, HADHB, HNRNPDL, HRAS, HSPG2, IARS2, ISCU, ITGA7, KBTBD13, KCNJ18, KCNJ2, KCNJ5, KLHL40, KLHL41, KLHL9, LAMA2, LAMP2, LARGE1, LDB3, LDHA, LIMS2, LIPT1, LMNA, LMOD3, LPIN1, LRP4, LRPPRC, MATR3, MEGF10, MICU1, MTFMT, MTM1, MUSK, MYBPC1, MYF6, MYH2, MYH3, MYH7, MYH8, MYOT, MYPN, NALCN, NDUFA1, NDUFA10, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEB, OPA1, ORAI1, PABPN1, PDHA1, PDHB, PDHX, PDSS2, PET100, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PIEZO2, PLEC, PMM2, PNPLA2, PNPLA8, PNPT1, POGLUT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PREPL, PUS1, PYGM, RAPSN, RBCK1, RXYLT1, RYR1, SCN4A, SCO1, SCO2, SDHA, SDHAF1, SELENON, SERAC1, SGCA, SGCB, SGCD, SGCG, SIL1, SLC19A3, SLC22A5, SLC25A20, SLC25A3, SLC25A4, SLC5A7, SPEG, STAC3, STIM1, SUCLA2, SUCLG1, SURF1, SYNE1, SYNE2, SYT2, TACO1, TAZ, TCAP, TIA1, TK2, TMEM43, TNNI2, TNNT1, TNNT3, TNPO3, TOR1AIP1, TPK1, TPM2, TPM3, TRAPPC11, TRIM32, TRIM63, TRMU, TRPV4, TSFM, TTC19, TTN, TWNK, TYMP, UQCRQ, VARS2, VCP, VIPAS39, VMA21, VPS33B, XK, YARS2, ZC4H2

Analysis Methods

Massive sequencing data analysis (NGS)

Sample Requirements

5 mL whole blood (EDTA). It´s necessary to send us the clinical and family history.

TAT

30 days

Omim G

Omim F

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us is simple and quick

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We have optimized all our processes to accept a wide range of samples, always adapting to each case.

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