Test 70.
Leukodystrophy with brain calcifications

Mutations in 232 genes associated with leukodystrophy with brain calcifications


AARS, AARS2, ABCD1, ABHD16A, ACBD5, ACER3, ACOX1, ACP5, ADAR, ADGRG1, AIFM1, AIMP1, ALDH3A2, AP1S2, AP4B1, APOPT1, ARSA, ARX, ASPA, ATP11A, ATP7A, ATPAF2, AUH, BCAP31, BCS1L, BOLA3, CIC, CLCN2, CLDN11, CLPP, CNP, CNTNAP1, COA7, COL4A1, COLGALT1, COQ2, COQ8A, COQ9, COX10, COX15, CSF1R, CTC1, CYP27A1, CYP2U1, CYP7B1, D2HGDH, DARS, DARS2, DCAF17, DCX, DDB1, DDB2, DEGS1, DGUOK, DPYD, EARS2, EGR2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL1, EPRS, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ETFDH, FA2H, FAM126A, FARSA, FIG4, FLVCR2, FOLR1, FUCA1, GALC, GBE1, GFAP, GFM1, GJA1, GJB1, GJC2, GLB1, GLRX5, GTF2E2, GTF2H5, HEPACAM, HEXA, HIKESHI, HMBS, HSD17B4, HSPD1, HTRA1, IBA57, IFIH1, ISCA1, ISCA2, JAM3, KIAA1161, KIF5A, L2HGDH, LAMB1, LIG3, LMNB1, LSM7, LYRM7, MAT1A, MCOLN1, MEF2C, MFF, MLC1, MPLKIP, MPZ, MRE11, MRPS16, MTFMT, NAXD, NAXE, NDE1, NDUFA2, NDUFAF1, NDUFAF3, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NFU1, NKX6-2, NOTCH3, NUBPL, NUP188, OCLN, OCRL, PAFAH1B1, PCDH12, PDGFB, PDGFRB, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PHGDH, PI4KA, PLP1, PMP22, POLG, POLG2, POLH, POLR1A, POLR1C, POLR3A, POLR3B, POLR3K, PPT1, PRF1, PSAP, PTEN, PYCR2, RAB11B, RARS, RELN, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF220, RNU7-1, RPIA, RRM2B, SAMHD1, SCAF4, SCN2A, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHB, SDHD, SLC13A5, SLC16A2, SLC17A5, SLC20A2, SLC25A1, SLC25A12, SLC25A4, SNORD118, SOX10, SPART, SPG11, SPG7, STN1, SUCLA2, SUMF1, SURF1, TACO1, TMEM106B, TMEM63A, TREM2, TREX1, TUBA1A, TUBA8, TUBB2B, TUBB4A, TUFM, TWNK, TYMP, TYROBP, UFM1, UNC13D, USP18, VPS11, WARS2, XPA, XPC, XPR1, ZFYVE26
Order Online:
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Test Price:
1400 BGN
Deadline:
50 working days