Genetics Test Information

This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 212 genes associated with distal weakness: AAAS, AARS1, ABCA1, ABCD1, ACTA1, AIFM1, ALDH18A1, AMACR, ANO5, AP5Z1, APOA1, APTX, ARSA, ATL1, ATL3, ATM, ATP1A1, ATP7A, B4GALNT1, BAG3, BICD2, BIN1, BSCL2, C12orf65 (MTRFR), C1orf194, CAV3, CHCHD10, CLCF1, CLTCL1, CNTNAP1, COQ4, COQ7, COX10, COX20, COX6A1, CPOX, CRLF1, CRYAB, CTDP1, CYP27A1, CYP2U1, CYP7B1, DCTN1, DDHD1, DES, DGAT2, DHH, DNAJB2, DNAJB6, DNM2, DNMT1, DST, DYNC1H1, DYSF, EGR2, ELP1, ERCC8, FA2H, FAM126A, FBLN5, FBXO38, FDX2, FGD4, FGF14, FHL1, FIG4, FLNC, FLVCR1, FMR1, FXN, GALC, GAN, GARS1, GBA2, GBE1, GBF1, GDAP1, GJB1, GLA, GM2A, GNB4, GNE, GSN, HADHA, HADHB, HARS1, HEXA, HEXB, HINT1, HK1, HMBS, HNRNPA1, HNRNPA2B1, HSPB1, HSPB8, HSPD1, IARS2, IBA57, IGHMBP2, INF2, KARS1, KIF1A, KIF5A, LAMA2, LDB3, LITAF, LMNA, LRSAM1, MARS1, MATR3, MCM3AP, MFN2, MME, MORC2, MPC1, MPV17, MPZ, MTMR2, MTTP, MYH14, MYH2, MYH7, MYOT, NAGLU, NDRG1, NEB, NEFH, NEFL, NF2, NGF, NIPA1, NTRK1, OPA1, PDK3, PDYN, PEX7, PHYH, PLA2G6, PLEKHG5, PLP1, PMP2, PMP22, PNKP, PNPLA6, POLG, PPOX, PRDM12, PRKCG, PRNP, PRPS1, PRX, PTRH2, RAB7A, REEP1, RETREG1, RNASEH1, RRM2B, RTN2, SACS, SBF1, SBF2, SCN10A, SCN11A, SCN9A, SCO2, SELENON, SEPTIN9, SETX, SH3TC2, SIGMAR1, SLC12A6, SLC25A19, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SNAP29, SOD1, SORD, SOX10, SPAST, SPG11, SPG21, SPG7, SPTAN1, SPTLC1, SPTLC2, SQSTM1, SUCLA2, SURF1, TDP1, TFG, TIA1, TRIM2, TRPV4, TSFM, TTN, TTPA, TTR, TUBB3, TWNK, TYMP, UBA1, VCP, VPS13D, VRK1, VWA1, WARS1, WASHC5, WNK1, YARS1, ZFYVE26. SMN1 exon 7 and SMN2 exon 7 copy number are determined by droplet digital polymerase chain reaction. See Targeted Genes and Methodology Details for Comprehensive Distal Weakness Gene Panel and Method Description for additional details.

Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for distal weakness.