AGDx NGS – White matter disease panel v8

Test code: V00290
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AGDx NGS – White matter disease panel: 169 genes

Genes

AARS, AARS2, ABCD1, ADAR1, AGPS, AIFM1, AIMP1, ALDH3A2, AMT, APOPT1, APP, ARSA, ASPA, ATAD3A, ATAD3B, ATN1, ATRN, AUH, BCAP31, BCKDHA, BCKDHB, BOLA3, BPIFA2, CBS, CLCN2, CLPP, CNTNAP1, COL4A1, COL4A2, COX6B1, CSF1R, CST3, CTC1, CTSA, CYP27A1, D2HGDH, DARS, DARS2, DBT, DHAPAT, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EPRS, ERCC2, ERCC3, ERCC6, ERCC8, FAH, FAM126A, FBXL4, FOLR1, FUCA1, GALC, GAN, GBE1, GCDH, GCSH, GFAP, GJA1, GJB1, GJC2, GLA, GLB1, GLDC, GLRX5, GM2A, GSN, GTF2H5, HEPACAM, HEXA, HEXB, HMBS, HMGCL, HSPD1, HTRA1, IBA57, IDH1, IDH2, IKBKAP, ISCA2, ITM2B, KARS, L2HGDH, LAMA2, LAMB1, LIAS, LMBRD1, LMNB1, LYRM7, MLC1, MMACHC, MMADHC, MOG, MTFMT, MTHFR, MTR, MTRR, NDUFA2, NDUFS1, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NFU1, NKX6-2, NOTCH3, NUBPL, PAHX, PCCA, PCCB, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHGDH, PHYH, PLP1, POLR1C, POLR3A, POLR3B, POLR3D, PSAP, PSAT1, RARS, RARS2, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RPIA, SAMHD1, SDHA, SDHAF1, SDHB, SLC16A2, SLC17A5, SLC19A3, SLC1A4, SLC25A1, SLC25A12, SNORD118, SOX10, SPTAN1, SUMF1, SURF1, TMEM106B, TREM2, TREX1, TTR, TUBB4A, TYMP, TYROBP, UFM1, VPS11, ZNF335

Lab method

NGS Sequencing

Turnaround time

3 months

Price  1.440,00

Disorders:

  • White Matter Disorders
  • Hypomyelinating Leukodystrophy type 2 (OMIM: 608804)
  • Hypomyelinating Leukodystrophy type 3 (OMIM: 260600)
  • Hypomyelinating Leukodystrophy type 4 (OMIM: 612233)
  • Hypomyelinating Leukodystrophy type 5 (OMIM: 610532)
  • Hypomyelinating Leukodystrophy type 6 (OMIM: 612438)
  • Hypomyelinating Leukodystrophy type 7 - 4H syndrome (OMIM: 607694)
  • Hypomyelinating Leukodystrophy type 8 (OMIM: 614381)
  • Leukodystrophy - adult-onset - autosomal dominant (OMIM: 169500)
  • Leukoencephalopathy - diffuse hereditary - with spheroids (OMIM: 221820)