Kapsamlı Musküler Distrofi/Miyopati Gen Paneli

WES/CES/PANEL Hasta Bilgilendirme ve Onam Formu doldurulmalıdır. İlgili forma https://www.ahenklab.com.tr/Content/document/form/gn-f25-ahenk-ghdm-wes-ces-panel-hasta-bilgilendirme-ve-onam-formu-revno-01.pdf linkinden ulaşılabilir.

2-8 °C de 3 gün

Çalışılan Genler: AARS2, ABCC9, ABHD5, ACAD9, ACADS, ACADVL, ACTA1, ACTC1, ACTN2, AFG3L2, AGK, AGL, AGPAT2, AGRN, AIFM1, AKT1, ALDOA, ALG2, ALG14, ALPL, AMPD1, ANO5, AP1S2, ATP2A1, B3GALNT2, B4GALT1, B4GAT1, BAG3, BIN1, BSCL2, BUB1B, POPDC1, MTRFR, CACNA1S, CAPN3, CASQ1, CAV1, CAV3, CAVIN1, CDH23, CDON, CEP57, CFL2, CHAT, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CISD2, CLCN1, CNBP, CNTN1, COA5, COL4A1, COL6A1, COL6A2, COL6A3, COL12A1, COLQ, COQ2, COQ9, COX6B1, COX10, COX14, CPT2, CRYAB, CSRP3, CTNS, DAG1, DES, DMD, DMPK, DNA2, DNAJB6, DNM2, DOK7, DOLK, DPAGT1, DPM1, DPM3, DSG2, DYSF, EARS2, ELN, EMD, ENO3, EPG5, FARS2, FASTKD2, FGF8, FGFR1, FHL1, FKBP14, FKRP, FKTN, FLNC, FOXRED1, FRG1, GAA, GABRD, GATAD1, GBE1, GCLC, GFER, GFM1, GFPT1, GK, GLI2, GMPPB, GNE, GYG1, GYS1, HADHA, HADHB, HCCS, HNRNPA1, HNRNPA2B1, HNRNPDL, HRAS, HSPG2, INPP5K, ISCU, ITGA7, KBTBD13, KIF21A, KLHL40, KLHL41, LAMA2, LAMA4, LAMB2, LAMP2, LARGE1, LDB3, LIMS2, LIPE, LMNA, LMNB2, LMOD3, LPIN1, LRP4, MEGF10, MGME1, MPV17, MRPL3, MRPS16, MRPS22, MTAP, MTFMT, MTM1, MTMR14, MTO1, MUSK, MYBPC3, MYF6, MYH2, MYH6, MYH7, MYH14, MYL2, MYO18B, MYOT, MYPN, NARS2, NDUFS2, NEB, NEFH, NEXN, NODAL, NR0B1, OPA1, PABPN1, PANK2, PDSS1, PDSS2, PFKM, PGAM2, PGK1, PHGDH, PHKA1, PIEZO2, PLEC, PLN, PNPLA2, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PPARG, PRDM16, PRKACA, PRKAG2, PRKAG3, PRKAR1A, PSAT1, PSEN1, PSEN2, PTCH1, PTEN, PUS1, PYGM, RAF1, RAPSN, RBM20, RERE, RET, RMND1, RRM2B, RYR1, SAR1B, SARS2, SCN4A, SCN5A, SCO1, SDHA, SDHAF1, SDHB, SDHD, SELENON, SGCA, SGCB, SGCD, SGCG, SHH, SIL1, SIX3, SKI, SLC5A7, SLC22A5, SLC25A1, SLC25A3, SLC25A4, SLC37A4, SLC52A1, SMCHD1, SNAP25, STIM1, SUCLG1, SUFU, SURF1, SYNE1, SYNE2, SYT2, TAFAZZIN, TCAP, TGIF1, TIA1, TK2, TMEM43, TNNC1, TNNI3, TNNT1, TNNT2, TNPO3, TOR1AIP1, TPI1, TPM1, TPM2, TPM3, TRAPPC11, TRIM32, TRIP13, TRMU, TSFM, TTN, TUBB3, TUFM, TWNK, TXNRD2, TYMP, UBA1, USP8, VAMP1, VCL, VCP, VMA21, VPS13A, WFS1, XDH, XK, YARS2, ZBTB20, ZIC2, DUX4, MATR3, ORAI1, PDE8B, PDE11A, TBCE, ACACA, SCO2, CRPPA (ISPD), SEPTIN9 (SEPT9), MTRFR (C12orf65), CRPPA (IspD), TAFAZZIN (TAZ), WWTR1 (TAZ) Müsküler distrofi; iskelet kaslarının ilerleyici hasarı ile karakterize, kaslarda güçsüzlük ve atrofiye sebep olan, genetik bir hastalıktır. Bu hastalık kalıtsaldır, ilerleyicidir ve ayırıcı şekli olan, karakteristik bir zayıflığa neden olurlar. Duchenne müsküler distrofi ve Becker müsküler distrofi en sık rastlanılan tipleridir. Limb-Girdle müsküler distrofi (LGMD), Fasioskapulohumeral müsküler distrofi (FSH), Okülofaringeal müsküler distrofi ve Miyotonik distrofi tipleri bulunmaktadır.