CARASIL

Forms and Documents

Test Details

AARS, AARS2, ABAT, ABCD1, ACADS, ACER3, ACOX1, ACY1, ADAR, ADGRG1, ADSL, AHDC1, AIMP1, ALDH3A2, ALDH6A1, AMN, AMPD2, ANK3, AP4B1, AP4S1, APOPT1, ARHGAP31, ARHGEF10, ARNT2, ARSA, ASNS, ASPA, ASXL1, AUH, BCAP31, BCS1L, BEST1, BMP4, BRAT1, CARS2, CCDC88A, CHMP2B, CLCN2, CLN6, CLP1, COL4A1, COL4A2, COX10, COX15, COX7B, CPLX1, CSF1R, CTBP1, CTC1, CTDP1, CYP27A1, CYP7B1, D2HGDH, DAG1, DARS, DARS2, DDHD2, DEAF1, DHFR, DHH, DLL4, DNM2, DOCK6, DPYS, DYRK1A, EARS2, EDNRB, EGR2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ENTPD1, EOGT, ERCC2, ERCC6, ERCC8, FA2H, FAM126A, FBXL4, FGD4, FGFRL1, FIG4, FKRP, FOXC1, FOXG1, FOXRED1, GAA, GALC, GAN, GBE1, GCDH, GDAP1, GFAP, GFM1 (EFG1), GJA1, GJB1, GJC2, GLB1, GLUL, GLYCTK, GNAO1, GRM7, GRN, HEPACAM, HEXA, HSD17B4, HSPD1, HTRA1, IBA57, IDUA, IER3IP1, IFIH1, ISCA2, ITPA, KARS, KCNJ10, KCNT1, L2HGDH, LAMA1, LAMA2, LAMB1, LARGE1, LETM1, LIPT1, LITAF, LMNB1, LRPPRC, LYRM7, MAPT, MARS2, MAT1A, MCOLN1, MEF2C, MLC1, MOCS1, MOCS2, MPV17, MPZ, MRPS22, MTFMT, MTTP, MUT, NADK2, NDRG1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF3 (C3ORF60), NDUFAF4 (C6ORF66), NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NEFL, NFU1, NGLY1, NOTCH1, NOTCH3, NRXN1, NSD2, NUBPL, OCRL, PAFAH1B1, PC, PCDH12, PDYN, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PHGDH, PHYH, PIGA, PLEKHG2, PLP1, PMP22, POLG, POLR1C, POLR3A, POLR3B, POMK, POMT1, PPP2R1A, PRKDC, PRPS1, PRX, PSAP, PSEN1, PTEN, PURA, PYCR2, QARS, RARS, RBPJ, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF216, RPIA, RPS6KC1, SAMHD1, SBF2, SCP2, SDHA, SDHAF1, SDHB, SDHD, SEPSECS, SH3TC2, SHANK3, SHPK, SLC16A2, SLC17A5 , SLC1A4, SLC25A1, SLC25A12, SLC25A22, SLC33A1, SLC35A2, SLC46A1, SLC6A8, SNIP1, SOX10, SPATA5, SPG11, SPG20, SPTAN1, SQSTM1, SSR4, STAMBP, STAT1, STXBP1, SUMF1, SURF1, SYNE1, TACO1, TAF2, TARS2, TM4SF20, TMEM126B, TMEM165, TMEM187, TMEM70, TRAPPC9, TREM2, TREX1, TRMT10A, TRMT5, TSC1, TSEN54, TUBB2A, TUBB4A, TUFM, TYMP, TYROBP, UBE2A, UPB1, VARS2, VCP, VPS11, WWOX, ZEB2, ZFYVE26, ZNF335
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with leukodystrophy or leukoencephalopathy
  • Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies
  • Next-Gen Sequencing

Ordering

J853
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81404x5, 81405x6, 81406x5, 81401x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Vanderver A et al. Leukodystrophy Overview. 2014 Feb 6. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: https://www.ncbi.nlm.nih.gov/books/NBK184570/.
  2. Bonkowsky et al. (2010) Neurology 75 (8):718-25 (PMID: 20660364)
  3. Heim P, Claussen M, Hoffmann B, Conzelmann E, Gärtner J, Harzer K, Hunneman DH, Köhler W, Kurlemann G, Kohlschütter A. Leukodystrophy incidence in Germany. Am J Med Genet. 1997;71:475–8 (PMID: 9286459).
  4. Zou et al. Whole exome sequencing: an effective and comprehensive genetic testing approach for leukodystrophy [abstract submitted] To be presented at the 2017 ASHG Annual Genetics Meeting, October 17-21, Orlando, FL.